Murder victim discovered to have two sets of DNA due to rare condition

A woman's body has been found to consist of varying proportions of male and female cells because of an extremely rare form of chimerism

The forensic examination of a murder victim has revealed that she had chimerism

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AI uncovers 360,000 DNA knots that quietly shape how genes turn on and off

AI maps fleeting DNA quadruplexes, revealing paired structures that control genes in healthy cells and cancer.

DNA just revealed a hidden operating system—and it doesn’t look like a helix.

Scientists have created the first comprehensive map of DNA quadruplexes, fleeting knot-like structures that play an outsized role in controlling how genes turn on and off.

The breakthrough reshapes how researchers understand gene regulation in both healthy and cancerous cells.

The international team included researchers from HSE University, who tackled a long-standing challenge: quadruplexes form quickly, disappear just as fast, and evade traditional genome-wide mapping tools.

Until now, only fragments of their activity could be observed.

Using artificial intelligence, the researchers reconstructed where these unstable DNA structures arise across the genome. More importantly, they uncovered a surprising rule that underlines that quadruplexes don’t act alone.

For the first time, scientists showed that quadruplexes function in pairs, linking gene-start regions with nearby DNA elements that boost transcription.

DNA knots, paired

Quadruplexes form when guanine-rich DNA regions fold into stacked layers, creating three-dimensional knots. These structures act as landmarks for proteins that regulate gene activity, guiding them to the right genetic addresses.

Because different experiments capture different subsets of quadruplexes, a complete map had remained elusive. To overcome this, the researchers retrained DNABERT, a genomic language model, on quadruplex-specific data.

“In our study, we trained DNABERT on EndoQuad, the world’s largest database of experimentally validated quadruplexes, resulting in the GQ-DNABERT model. This model evaluates DNA sequences to predict where a quadruplex is likely to form,” comments Maria Poptsova, Director of the Centre for Biomedical Research and Technology at the HSE Faculty of Computer Science.

Unlike simpler algorithms, GQ-DNABERT also considers the surrounding DNA context, which determines whether a sequence actually folds into a quadruplex.

This allowed the team to predict around 360,000 quadruplexes, far exceeding what experimental methods alone have detected.

The model confirmed that quadruplexes commonly appear in promoters, the regions where gene transcription begins. But it also revealed something unexpected: many were found in nearby enhancers, DNA elements that amplify gene activity.

Cancer rewrites the code

The researchers discovered that quadruplexes often form simultaneously in promoters and enhancers, creating paired structures that jointly regulate gene expression.

To test their biological role, the team overlaid the quadruplex map onto single-cell sequencing data from six tissue types.

In healthy tissues, these promoter–enhancer pairs were linked to genes with tissue-specific roles—neuronal functions in the brain, immune responses in blood, and epithelial activity in the intestine.

Tumor cells told a very different story. While the number of quadruplex pairs remained similar, the genes they controlled shifted dramatically toward universal growth programs.

“In normal cells, these pairs are associated with tissue-specific programmes, whereas in cancer cells they are linked to universal processes of cell division and growth that drive tumour proliferation regardless of the tissue of origin,” explains Poptsova.

“In other words, in healthy cells, these pairs support tissue specialisation, while in cancer they become part of general programmes for rapid cell division.“

By clarifying how quadruplex pairs rewire gene regulation in disease, the map could help guide future anticancer therapies that selectively target these DNA structures, according to the researchers.

The study was supported by a grant from the HSE AI Research Centre and published in

Nucleic Acids Research

Scientists uncover decades of airborne DNA data hidden inside old air filters

Archived air filters reveal decades of airborne DNA, letting scientists track ecosystem changes week by week.

The air around us is quietly recording life on Earth, and scientists have just learned how to read it.

In a breakthrough that turns routine radiation monitoring into a biodiversity time capsule, researchers have extracted decades of airborne DNA from old air filters to reconstruct how ecosystems have changed over time.

The study represents the most detailed long-term analysis of airborne environmental DNA ever conducted.

All organisms shed tiny fragments of DNA into their surroundings.

These traces drift through the air, settle on surfaces, and—under the right conditions—can persist for decades. What scientists lacked until now was a long, continuous record of that genetic material.

That record turned out to be hiding in plain sight. Hundreds of air-monitoring stations around the world use filters to track radioactive fallout.

One such archive, stored since the 1960s in a basement at the Swedish Defence Research Agency (FOI), became the foundation of the new study.

When researcher Per Stenberg learned about the forgotten collection nearly a decade ago, he and colleague Mats Forsman immediately recognized its potential.

Ecosystems frozen in air

The filters came from a monitoring station outside Kiruna in northern Sweden. Week after week, they captured airborne DNA from plants, fungi, insects, microbes, birds, fish, and mammals such as moose and reindeer.

By sequencing the genetic material, researchers were able to identify around 2,700 organism groups within several miles of the station and track how their presence changed week by week over a 34-year period.

“It was a stroke of luck that the filters had been kept – and that they were made of a material that preserves DNA,” says Per Stenberg.

“The archive turned out to be a time machine, allowing us to revisit the past and watch an ecosystem changing in almost real time.”

The long-term data revealed a clear decline in biodiversity from the 1970s to the early 2000s. Species linked to birch forests, including lichens and fungi, showed notable drops. The researchers found that climate change alone could not explain the trend.

Instead, the patterns point to human-driven factors such as forest management practices as the likely cause of the decline.

A new monitoring tool

While airborne DNA has been analyzed before, the scale and depth of this work set it apart.

The team combined large-scale DNA sequencing with machine-learning-based species identification and air-flow modeling to trace where the DNA originated.

Comparisons with traditional field surveys showed strong agreement, validating the method’s ability to detect both species presence and population changes.

“This work is the result of nine years of intense research and development,” says Daniel Svensson, a co-author of the study. “I look forward to applying these data… to a wide range of questions.”

The approach opens new possibilities for monitoring biodiversity in remote or poorly studied regions where historical data are scarce or nonexistent.

Existing air-filter networks could effectively become global biodiversity observatories.

“The method can also detect and track genetic variation as well as the presence of invasive species and pathogens,” says Per Stenberg.

The study appears in the journal

Nature Communications.

Chronic fatigue syndrome seems to have a very strong genetic element

The largest study so far into the genetics of chronic fatigue syndrome, or myalgic encephalomyelitis, has implicated 259 genes – six times more than those identified just four months ago

We’re starting to get a handle on the role that genetics plays in the onset of chronic fatigue syndrome, or myalgic encephalomyelitis (ME/CFS). According to the largest study of its kind to date, more than 250 genes are involved – six times the number identified earlier this year. Not only could this help us develop treatments that tackle ME/CFS at its roots, but the study also adds to our knowledge of how it differs from long covid, a very similar condition.

“It’s opening up a huge number of new avenues, either for novel therapy development or for drug repurposing,” says team member Steve Gardner at Precision Life in Oxford.

ME/CFS is a chronic condition that is often disabling. It has many symptoms, but a core feature is post-exertional malaise, where even small amounts of activity lead to prolonged exhaustion. ME/CFS is generally triggered by an infection, but it is unclear why many people can get such an infection but not develop the condition.

To learn more, Gardner’s team examined genomic data from more than 10,500 people who had been diagnosed with ME/CFS. This data was previously gathered by a project called DecodeME, which revealed in August that people with ME/CFS have key genetic differences from those without the condition.

Now, Gardner and his colleagues have compared this data with that of people without ME/CFS from the UK Biobank. They focused on genetic variants called single nucleotide polymorphisms (SNPs), in which a single letter of the genome is changed.

A standard analysis would look at one SNP at a time, but “complex disease biology just isn’t like that”, says Gardner. “There are multiple genes involved, and they’re interacting with each other. Some are amplifying each other’s effects, some are inhibiting each other’s effects.”

Instead, the researchers looked for groups of SNPs associated with ME/CFS risk. They found 22,411 such groups, composed of combinations of 7555 SNPs, out of the more than 300,000 they identified overall. The researchers also found that the more of these SNP groups a person had, the greater their chances of developing ME/CFS.

“That’s where they start to take the thing forward,” says Jacqueline Cliff at Brunel University of London.

Next, the team mapped the SNPs to 2311 genes, each of which plays a small role in a person’s risk. Of those, they identified 259 “core” genes that showed the strongest links with ME/CFS and had the most common SNPs. This represents a big advance from the August study, which found 43 genes.

“If you’re really interested in druggability and wanting to benefit as many patients as possible, the [variants] with the higher prevalence and the higher effect size are obviously the ones that you would choose to investigate first,” says Gardner. There are currently no specific medicines to treat ME/CFS, but people may be offered painkillers or antidepressants, as well as being taught about managing their energy.

Danny Altmann at Imperial College London is optimistic that studies like these will shine a light on the serious harms of ME/CFS, which he says has been misunderstood and neglected for decades. “We’re at a coming of age in terms of genomics and pathophysiology.”

Several studies have previously tried to identify genetic risk factors for ME/CFS. “Some have replicated [each other’s findings] and some haven’t,” says Altmann. “That’s all about scale and power.” Studies with too few participants will probably miss real genetic signals.

In August, the researchers behind DecodeME also identified variants in eight regions of the genome, including the 43 genes that contribute to ME/CFS risk, but they were unable to replicate all of them in independent datasets. PrecisionLife, however, rediscovered all eight regions, supporting the idea of being true risk factors for the condition.

ME/CFS is also frequently compared to long covid, which is similarly triggered by an infection and also commonly leads to post-exertional malaise. In the new study, the researchers tried to clarify the relationship between these conditions by comparing the list of genes they had linked to ME/CFS with those they had previously linked to long covid. “About 42 per cent of the genes that we found in long covid also show up reproducibly across multiple cohorts in ME,” says Gardner. “These are obviously two partially overlapping diseases.”

But we can’t be too confident about the long covid results, says Cliff, because these individuals were analysed differently from those with ME/CFS. In the paper, the researchers say that the genetic overlap they identified is “a minimum estimate”, suggesting that the conditions may be more genetically similar than we think.

Altmann and his colleague Rosemary Boyton, also at Imperial, have just secured £1.1 million of funding to investigate how ME/CFS and long covid are linked. Altmann says they aim to recruit people with both conditions and carry out “really high-tech, high-resolution analysis”, including of the participants’ immune systems, any latent viruses lingering in their bodies and their gut microbiomes – all of which have been implicated in these conditions.

By understanding the mechanisms behind ME/CFS and long covid, and understanding how they vary from person to person, we can hopefully target them directly, says Altmann.

Supposedly distinct psychiatric conditions may have same root causes

People are often diagnosed with multiple neurodivergencies and mental health conditions, but the biggest genetic analysis so far suggests many have shared biological causes

An analysis of gene variants in more than a million people diagnosed with neurodivergencies and mental health conditions – by far the largest study of its kind so far – has found that 14 conditions typically regarded as distinct actually fall into five underlying genetic groups.

The finding is encouraging for those diagnosed with multiple psychiatric conditions, says Andrew Grotzinger at the University of Colorado Boulder, a member of the research team behind the analysis. People can feel this means there is a lot wrong with them, he says, but there may be just one root cause.

“For the millions of people out there who are being diagnosed with multiple psychiatric conditions, this indicates that they don’t have multiple distinct things going on,” says Grotzinger. “I think it makes a big difference for a patient to hear that.”

When biologists started looking for genetic variants that are associated with a higher chance of developing a range of psychiatric conditions, they expected to find different variants for each. Instead, it became clear that there is a lot of overlap. A few researchers have even suggested that all such conditions have a single underlying cause, dubbed the p-factor.

This latest study suggests the reality is somewhere in between these two extremes. It doesn’t provide much support for the idea of a p-factor – while some gene variants were linked to all 14 conditions, they were involved in basic processes that cause many different problems beyond mental illnesses when they go wrong, says Grotzinger.

On the flip side, the team also found relatively few variants linked to a higher risk of just a single condition. Instead, the variants tended to fall into five groups, with an especially high overlap between schizophrenia and bipolar disorder, and between major depression, PTSD and anxiety.

Many of the variants linked to schizophrenia and bipolar disorder were in genes active in excitatory neurons – which make other neurons more likely to fire – whereas many of the variants linked with depression, PTSD and anxiety were in genes active in oligodendrocytes, the cells that produce the myelin sheaths around nerves.

The three other groups that Grotzinger and his colleagues identified were: ADHD and autism; OCD, anorexia nervosa and Tourette’s; and substance use disorders and nicotine dependence.

The findings could help explain why two-thirds of people diagnosed with a psychiatric condition get diagnosed with more than one in their lifetime. It could also be seen as evidence that the diagnostic criteria used by psychiatrists are wrong, says Grotzinger.

“If you went to the doctor and you had a runny nose, a cough and a sore throat, you wouldn’t want to be diagnosed with runny nose disorder, coughing disorder and sore throat disorder. You’d want to be diagnosed with a cold,” he says.

“We’re giving separate labels to things that biologically are not very separable,” says Grotzinger. “But other clinicians might argue that even though the genetic differences are minor, these things require different treatments.”

Clinicians also tend to think there is a “correct” diagnosis for each person, says Grotzinger. “People can treat these diagnostic manuals like religious texts.” However, the degree of genetic overlap uncovered in the new study suggests that there is often no single correct diagnosis.

“This is an impressive paper,” says Avshalom Caspi at Duke University in North Carolina. “Many mental disorders are not separate disorders, but share common pathways that affect neurodevelopment, cognition and emotion. This is increasingly appreciated now.”

Researchers should no longer study conditions in isolation, says Terrie Moffitt, also at Duke. “Funders should be much more careful about giving grants to researchers who study one disorder at a time, lest a good deal of research resources be wasted.”

However, Moffitt thinks the study relies on data about mental health that was collected using outdated designs. People should be followed over longer periods to get better data for genetic analysis, she says.

As Grotzinger and his colleagues acknowledge, the study was also largely restricted to people with European ancestry, as not enough data was available from other groups.

Grotzinger also says we still know too little about the effects of these gene variants to start applying this knowledge – for instance, for screening embryos during IVF, a process that raises ethical questions.

“We’re starting to get there, but we don’t know exactly what these genes do,” he says. “It’s not that I think embryo screening is wrong; it’s bad scientifically.”

We may finally know what a healthy gut microbiome looks like

Our gut microbiome has a huge influence on our overall health, but we haven't been clear on the specific bacteria with good versus bad effects. Now, a study of more than 34,000 people is shedding light on what a healthy gut microbiome actually consists of

We often hear talk of things being good for our microbiome, and in turn, good for our health. But it wasn’t entirely clear what a healthy gut microbiome consisted of. Now, a study of more than 34,000 people has edged us closer towards understanding the mixes of microbes that reliably signal we have low inflammation, good immunity and healthy cholesterol levels.

Your gut microbiome can influence your immune system, rate of ageing and your risk of poor mental health. Despite a profusion of home tests promising to reveal the make-up of your gut community, their usefulness has been debated, because it is hard to pin down what a “good” microbial mix is.

Previous measures mainly looked at species diversity, with a greater array of bacteria being better. But it is difficult to identify particular communities of interacting organisms that are implicated in a specific aspect of our health, because microbiomes vary so much from person to person.

“There is a very intricate relationship between the food we eat, the composition of our gut microbiome and the effects the gut microbiome has on our health. The only way to try to map these connections is having large enough sample sizes,” says Nicola Segata at the University of Trento in Italy.

To create such a map, Segata and his colleagues have assessed a dataset from more than 34,500 people who took part in the PREDICT programme in the UK and US, run by microbiome testing firm Zoe, and validated the results against data from 25 other cohorts from Western countries.

Of the thousands of species that reside in the human gut, the researchers focused on 661 bacterial species that were found in more than 20 per cent of the Zoe participants. They used this to determine the 50 bacteria most associated with markers of good health – assessed via markers such as body mass index and blood glucose levels – and the 50 most linked to poor health.

The 50 “good bug” species – 22 of which are new to science – seem to influence four key areas: cholesterol levels; inflammation and immune health; body fat distribution; and blood sugar control.

The participants who were deemed healthy, because they had no known medical conditions, had about 3.6 more of these species than people with a condition, while people at a healthy weight hosted about 5.2 more of them than those with obesity.

The researchers suggest that good or bad health outcomes may come about due to the vital role the gut microbiome plays in releasing chemicals involved in cholesterol transport, inflammation reduction, fat metabolism and insulin sensitivity.

As to the specific species that were present, most microbes in both the “good” and “bad” rankings belong to the Clostridia class. Within this class, species in the Lachnospiraceae family featured 40 times, with 13 seemingly having favourable effects and 27 unfavourable.

“The study highlights bacterial groups that could be further investigated regarding their potential positive or negative impact [on] health conditions, such as high blood glucose levels or obesity,” says Ines Moura at the University of Leeds, UK.

The link between these microbes and diet was assessed via food questionnaires and data logged on the Zoe app, where users are advised to aim for at least 30 different plants a week and at least three portions a day of fermented foods, with an emphasis on fibre and not too many ultra-processed options.

The researchers found that most of the microbes either aligned with a generally healthy diet and better health, or with a worse diet and poorer health. But 65 of the 661 microbes didn’t fit in.

Partial Brain Reprogramming: FDA Greenlights Path to First Human Trial

What is partial reprogramming, and is it the cure for age-related cognitive decline and dementia?

YouthBio Therapeutics, a biotech company based in Seattle, recently announced the FDA’s greenlighting of a path towards their new gene therapy, YB002.  

“The FDA’s response confirms our capital-efficient development strategy for YB002 and provides a clear path to the clinic,” said Yuri Deigin, CEO of YouthBio. “This is a significant inflection point, shifting the conversation from scientific plausibility to execution, and positioning YouthBio to be the first to bring partial reprogramming to the human brain.”

What Is Partial Reprogramming?

It wasn’t until the 1960s that scientists seriously contemplated the possibility of reversing human development. It started with Dr. John Gurdon, who would lay the foundation for age-reversal technology. Before Gurdon’s monumental findings, scientists were stuck on how an embryo could develop into an entire organism. How could a single cell become a full-fledged human, composed of a diverse array of specialized cells, from skin cells to neurons?

An Old Idea Shattered

The hypothesis at the time was relatively simple: embryo cells become specialized cells by shedding unnecessary genes. For example, an embryonic cell becomes a skin cell by retaining its skin cell genes and losing its non-skin cell genes (e.g., its neuron genes). Of course, this hypothesis was proven wrong by Dr. Gurdon during his time at Cambridge University. Working with frogs, Gurdon removed the nucleus of an embryo and replaced it with the nucleus of an intestinal cell. Remarkably, the embryo grew into a healthy adult frog, capable of reproducing. 

Gurdon’s experiment revealed that specialized cells (i.e., intestinal cells) do not lose genes, as hypothesized, but harbor all the genes necessary for the development of a multicellular organism. The findings were groundbreaking at the time, implying that the development of specialized cells could be reversed. Since Gurdon’s discovery, scientists have established that, instead of losing genes, specialized cells merely turn them off. Gurdon’s experiments also led to Dolly the sheep’s cloning, which has now been done successfully in over 20 species. 

Revolutionizing Our Understanding of Developmental Biology

Dr. Gurdon had figured out how to reprogram the nucleus of cells (by placing them into an embryo), a feat that didn’t seem possible. This left an impression on an entire generation of biologists around the world, including Dr. Shinya Yamanaka, who would revolutionize the field of developmental biology. Decades after Gurdon’s discovery, Dr. Yamanaka and his team at Kyoto University in Japan worked tirelessly to reprogram skin cells into embryonic cells, eventually succeeding. 

The technique was surprisingly simple, involving four proteins, now known as Yamanaka factors (OSKM: Oct4, Sox2, Klf4, and c-Myc), that turn thousands of genes on or off. Activating the Yamanaka factors in mature skin cells reprograms them into embryonic-like cells, which, like Gurdon’s findings, wasn’t thought possible. And achieving the impossible didn’t go unnoticed, as both Gurdon and Yamanaka won the 2012 Nobel Prize in Physiology or Medicine for their paradigm-shifting work. 

Bringing Nobel Prize Winning Technology to the Longevity Space

Gurdon and Yamanaka won the Nobel prize “for the discovery that mature cells can be reprogrammed to become pluripotent.” Pluripotency is the ability of a cell to become any other cell, an attribute reserved for stem cells, such as embryonic (stem) cells. However, the goal of longevity scientists is not to induce pluripotency via complete reprogramming, but to rejuvenate cells while maintaining their specialization. 

Only in the last decade have scientists determined how to rejuvenate cells without turning them back into stem cells. Key studies include one showing that human skin cells could be rejuvenated by 30 years while maintaining their skin cell identity. This was achieved by activating the Yamanaka factors transiently, stopping their activation just before cellular identity was lost. Another key study showed that cycling the activation of Yamanaka factors every other week could prolong the lifespan of mice while improving their health, essentially making the mice younger. 

These and other studies helped establish that cycling the activation of Yamanaka factors could rejuvenate entire organisms. Thus, partial reprogramming can be described as reverting cells to an earlier stage of development by cycling the activation of Yamanaka factors to maintain their identity and specialized functions. 

Partially Reprogramming the Brain in Rodents 

In 2020, longevity researchers began exploring the effect of partial reprogramming on the brains of mice and rats. In one of the first of these explorations, Rodríguez-Matellán and colleagues showed that partial reprogramming favors the migration of neural stem cells, increases the survival of newborn neurons, and improves the memory of young adult mice. These findings suggest that partial reprogramming can mitigate age-related deficits in memory and neurodegeneration. 

In 2024, several studies explored the effects of partial reprogramming on brain function and cognition. Xu and colleagues from Stanford University found that partial reprogramming reverses age-related neural stem cell decline and improves the production of new neurons in aged mice. Shen and colleagues induced partial reprogramming while mice were still in the womb, leading to an increase in brain size (neurogenesis) and improved motor and social behavior. 

The same study showed that partial reprogramming reduced amyloid-beta plaques and senescence markers, increased dendritic spines, and improved cognition in a mouse model for Alzheimer’s disease. Vílchez-Acosta and colleagues found that brain-specific partial reprogramming improves learning and memory in mice but only if administered late in life. Finally, Horvath and colleagues showed that partial reprogramming could improve the memory of old rats. 

Together, these studies suggest that partial reprogramming could potentially ameliorate the cognitive deficits and neurodegeneration associated with aging. Moreover, Shen and colleagues have provided evidence that partial reprogramming could potentially be beneficial for Alzheimer’s patients. Now, YouthBio will begin preparing for clinical trials to test just that. If partial reprogramming gene therapy (YB002) ends up reversing Alzheimer’s disease, they will have achieved a great feat, standing on the shoulders of Gurdon and Yamanaka.  

A revolutionary way to map our bodies is helping cure deadly diseases

New tools that create ultra-precise maps of our tissues are transforming our ability to diagnose and cure once-fatal illnesses

Thierry Nordmann was on his first night shift as a dermatologist at University Hospital Basel, Switzerland, when he got the emergency call. A patient was being brought in who’d had a severe reaction to their medication, which had destroyed the entire outer layer of their skin. Nordmann’s job was to confirm the diagnosis with a biopsy, but it was already clear: they had lost their skin’s protective barrier, leaving them wide open to infection and dehydration.

“That’s a very bad combination,” he says.

The medical staff sprang into action, isolating the patient to reduce their risk of infection and giving them antibodies in a bid to halt the immune cascade that was killing their skin cells.

But it didn’t work. The patient died – as do about a third of people with this painful condition. “The reason was because nobody really understood what was going on,” says Nordmann. “Everybody treats it differently.”

The experience left him with questions. Why do some people have this intense, lethal reaction to ordinary medicines, while others don’t? What exactly is happening in the cells of their skin?

Finding answers led Nordmann to a suite of emerging technologies that can study human tissue in astonishing detail, pinpointing diseased cells lying in the three-dimensional structure of our organs.

These technologies, known as spatial multiomics, are revealing what has gone wrong in the molecular machinery of those cells, and they led Nordmann to develop a new way to address a previously incurable, life-threatening condition. They could also lead to a raft of new treatments for other illnesses, including cancers, and usher in a new age of precision medicine.

Pathological skin

Modern medicine has spent two centuries zooming in, trying to understand why our bodies sometimes go so badly wrong. We have learned to trace diseases to organs like the heart and lungs, which are made up of tissues, which are made up of cells, which are built using a host of biological molecules like DNA, RNA and proteins.

Each level matters in truly understanding a given condition. Take the heart: cardiac arrest is when the heart stops beating, which seems simple enough, but apprehending why it happens means looking at blood pressure, narrowing of blood vessels, electrical conduction within the heart and many other other processes.

For Nordmann, the mystery was skin – and what causes it to suddenly, catastrophically, come off.

The condition Nordmann’s patient had is called toxic epidermal necrolysis (TEN). While it is rare, it is also brutal and can begin after taking everyday drugs like certain antibiotics or anti-epilepsy medications. For reasons no one fully understands, the immune system reacts violently. The skin becomes red, blistered and intensely painful. “Just by movement of your thumb on this redness, you can just peel away the skin,” says Nordmann. “Within 48 hours, maybe a bit longer, these patients just shed their skin.”

The effects are life-threatening. Even if people survive, they are often left with chronic complications.

“But what I’ve been seeing the most in these patients is fear,” says Nordmann. “These patients are scared of every single drug they take.” There is no obvious pattern in the treatments observed to cause TEN. And while some populations are at a substantially elevated risk, including Asian and Black people, “it can happen to almost anybody”, says Nordmann.

He suspected that the path to a viable treatment, if one existed, lay deep inside the skin. But here he found he was up against a problem that has bedevilled medical researchers for decades: even within a single organ or tissue, not all cells are alike. Two neighbouring cells can behave differently, producing a different mix of proteins and chemical signals. This means that a handful of malfunctioning cells can cause cascading damage to the entire organ.

Cancer researchers have known this for years. They talk about the “tumour microenvironment” – the idea that a tumour isn’t uniform, even under a microscope. “What’s going on at the invasive margin or leading edge of the cancer can be different than what’s going on in the central portion of the tumour,” says Frank Sinicrope, an oncology professor at the Mayo Clinic in Rochester, Minnesota.

But standard lab tools struggle to resolve these cell-to-cell differences. Analyses that sample the proteins or RNA in a tissue will generally mash together hundreds of cells in order to get a large enough sample. The result is a bit like a smoothie, which researchers can use to study thousands of proteins or other molecules.

Yet the crucial changes that researchers might still be able to spot are hidden in the mush. The signal is there, but scientists can’t say where it is happening.

There is another way to study diseased cells: look at them one by one. That became possible in the 2010s, when researchers learned to isolate single cells and sequence their entire genome. “We could identify that there were cell populations that we hadn’t understood before,” says J. Michelle Kahlenberg, a professor of rheumatic diseases at the University of Michigan in Ann Arbor.

But there was a catch. Such methods strip the cells from their context. Once removed from their tissue, it was impossible to say where each one had come from or how it might have affected its neighbours, and thus how abnormal behaviour spreads.

Now, though, a new generation of tools is bringing that context back.

Cell by cell

Known collectively as spatial multiomics, these techniques build up a three-dimensional map of a tissue or organ. This helps researchers identify diseased or abnormal cells and profile them on a molecular level.

“We’re on the precipice of really understanding biology in a way that will revolutionise our ability to safely treat all sorts of life-threatening illnesses,” says Kahlenberg.

The term multiomics refers to the practice of studying multiple biological systems at once: genes (via genomics), RNA (via transcriptomics), proteins (via proteomics) and more. Each offers a different lens on how cells function.

Spatial multiomics goes one step further and adds high-resolution imaging to molecular analysis, allowing scientists to build detailed maps of living systems – not just what molecules are present, but where they are and how they interact across space.

Andreas Mund, a researcher at the University of Copenhagen, Denmark, who helped develop the method Nordmann would later use to unpick TEN, calls it deep visual proteomics. Mund’s team described its technique in 2022, and it unfolds in four stages.

It starts with a biopsy: a sliver of tissue is fixed in formalin and embedded in paraffin, then sliced into micrometre-thin sections. These are stained to highlight particular molecules.

Second Complete Denisovan Genome Reveals a Far More Tangled Human Story

Vast Bronze Age city discovered in the plains of Kazakhstan

A major settlement in Central Asia called Semiyarka dating back to 1600 BC had houses, a big central building and even an industrial zone for producing copper and bronze

A large 140-hectare settlement dating back 3600 years has been discovered in the plains of north-eastern Kazakhstan, transforming our understanding of life in prehistoric Eurasia. It hints that the open grasslands of Central Asia once held a Bronze Age community as connected and complex as much better-known ancient civilisations.

“It’s not quite a missing piece of the jigsaw; it’s the missing half of the jigsaw,” says Barry Molloy at University College Dublin, Ireland, who wasn’t involved in the work.

The Bronze Age featured many notable civilisations, including the Shang and Zhou dynasties in China; the Babylonians and Sumerians in what is now Iraq; and numerous cultures around the Mediterranean, including the Egyptians, Minoans, Mycenaeans and Hittites.

The Central Asian steppes, however, were thought to be the domain of highly mobile communities living in tents or yurts. Semiyarka, or the “City of Seven Ravines”, seems very different and could have played a crucial role in the spread of bronze items between civilisations.

This is because the site – first identified in the early 2000s – overlooks the Irtysh river, which rises up in the Altai mountains in China, comes down onto the plains of Kazakhstan and goes all the way to the Arctic through Siberia.

Miljana Radivojević at University College London and her colleagues have been mapping and surveying the site since 2016. They have discovered that Semiyarka featured long banks of earth, conceivably for defence; at least 20 enclosed household compounds, probably built with mud bricks; and a central monumental building, which they suggest might have been used for rituals or governance. The types of pottery they found there indicate the site dates to around 1600 BC.

Crucially, the crucibles, slag and bronze artefacts at the site indicate a large area was dedicated to the production of copper and tin bronze – an alloy that is mainly copper but contains more than 2 per cent tin.

Compositionally, the elements in the slag from the crucibles correspond to tin deposits from part of the Altai mountains in east Kazakhstan about 300 kilometres away, says Radivojević.

The tin may have been brought there by people traversing the steppes or by boat along the Irtysh, or it may have been panned from the water, she says. “The Irtysh is the most important tin-bearing river in the Bronze Age of Eurasia and the flooding of the river’s flood plain that was happening seasonally would have been very helpful for panning the tin.”

The large size and neat lines of Semiyarka are very different from what is seen in the scattered camps and small villages usually associated with the mobile communities of the steppes.

Without detailed excavations – which are planned – we can’t know if the buildings were all there at the same time or were successive constructions over many years, says team member Dan Lawrence at Durham University, UK. “But the layout is very clear, and normally that would mean that it’s all contemporary, because you wouldn’t find these things in a neat line if they have been built one after the other.”

Due to its position on the river near major copper and tin deposits, the researchers suggest Semiyarka wasn’t only a production hub for bronze, but also a centre of exchange and regional power, a key node in the vast Bronze Age metal networks linking Central Asia with the rest of the continent.

“The Irtysh river was a very busy transport corridor,” says Lawrence. “It is basically laying the foundations for the Silk Roads as we know them today, a kind of pre-modern globalisation.”

The site transforms our understanding of Bronze Age steppe societies, says Radivojević, showing that they were just as sophisticated as other contemporaneous civilisations.

“This tells us that they were organised, that they were capable of resourcing and defending,” says Molloy. “Bringing materials like ores and metals to a centralised space speaks of a level of social organisation that goes beyond immediately local, and it fits back into the wider networks that we know were crisscrossing Eurasia, where metals were moving and they’re the key connector in terms of those wider networks.”

Analysing Hitler's DNA for a TV gimmick tells us nothing useful

To understand Adolf Hitler, we need to look at his personal life and the wider societal and historical context - analysing his DNA for a TV gimmick tells us nothing, says Michael Le Page

If you resort to mentioning Adolf Hitler, some say, you have lost the argument. If you resort to sequencing Hitler’s DNA to try to get more eyeballs for your TV channel, I would say you have just plain lost it.

And yet the UK’s Channel 4 has done just that with

Hitler’s DNA: Blueprint of a dictator

The DNA came from a blood-soaked piece of fabric cut from the sofa on which Hitler shot himself in 1945, which now resides in a US museum. The genome obtained has gaps due to the age of the sample, but the Y chromosome is said to match that of a male relative of Hitler, suggesting it is genuine.

If this had been done purely as an academic effort, to add a little to our knowledge by, for instance, revealing whether Hitler had a Jewish grandfather as rumoured (he didn’t, according to the DNA), it would arguably be OK. Instead, we have a sensationalist two-part documentary claiming this DNA evidence “will change the way we think about Hitler”.

The trouble with this is that it implies genetic determinism – that Hitler was somehow destined to do the terrible things he did because of his genes. To be clear, the documentary doesn’t make this specific claim, but it comes pretty close – what else could “Blueprint of a dictator” mean?

This is equivalent to arguing that if we made lots of Hitler clones, they would all end up killing millions, too. This isn’t an experiment we can – or would ever want to – do, but there are plenty of clones in the world, in the form of identical twins, who share the same DNA. Twin studies have been used to estimate the extent to which all kinds of traits and conditions are due to genes rather than the environment.

Now, there are many issues with twin studies, not least that twins usually grow up in the same environment, so it is impossible to completely disentangle genetic and environmental influences. Even so, the highest twin-based estimates for the heritability of criminality – probably the closest we can get to being a genocidal dictator – are less than 50 per cent. So there is no reason to think most Hitler clones would be monsters.

Then there is the fact that our understanding of the human genome is very much in its infancy. We still can’t predict simple traits such as eye colour with 100 per cent accuracy, let alone much more complex traits involving the interaction of the brain with the environment.

What we can do is look for genetic variants that have been statistically linked to a higher risk of conditions such as autism. People can then be given a “polygenic score” for each condition. The thing is, getting a very high polygenic score for autism doesn’t necessarily mean an individual definitely is autistic. There are many reasons for this: environmental factors matter too, the association between trait and variant might be spurious, we haven’t identified all the variants that matter, and so on.

“Due to inconsistent associations and limited generalizability, it must be emphasized that the autism polygenic score in its current state does not have clinical utility,” a meta-analysis concluded earlier this year.

According to the documentary, Hitler’s genome scores very highly for autism, along with the mental health conditions schizophrenia, bipolar disorder and antisocial behaviour or psychopathy. It also has an above-average score for ADHD. But there is already a long history of claiming Hitler had these kinds of mental conditions on the basis of his behaviour. The genetic evidence doesn’t prove anything and the diagnostic criteria for these conditions don’t include genetic data.

Hitler’s DNA came from a blood-soaked piece of fabric from the sofa that he killed himself on, which was taken by US army colonel Roswell P. Rosengren and is now on exhibit at The Gettysburg Museum of History in Pennsylvania

Gettysburg Museum of History

But more to the point, so what if he did have any of these conditions? Do any of these labels explain anything? As Simon Baron-Cohen at the University of Cambridge says in the documentary, the neglect and abuse Hitler experienced at the hands of his alcoholic father is “much more relevant to understanding why he grew up with hate and anger”.

Later, we are told that schizophrenia-related traits can be linked to creativity and unconventional thinking, which might explain his political and military successes. Really? This is pure speculation.

To me, that is the issue with analysing Hitler’s genome. You can make all these plausible-sounding connections with what we know about his personality and actions, but they could all be completely spurious. What’s more, it risks worsening the stigma already associated with conditions like autism, schizophrenia and bipolar disorder.

This documentary gives the lie to its own claims in that most of it simply rehashes what we already knew about Hitler. The only new thing is the claim that Hitler had Kallmann syndrome, which affects sexual development. But the physical effects of this condition vary widely and we do already have documentary evidence stating that Hitler had an undescended testicle, so, again, history is more informative than genetics.

There is also a wider issue that this documentary feeds into, the idea that Hitler was somehow uniquely evil and solely to blame for the second world war and the Holocaust. But, unfortunately, genocidal, warmongering dictators aren’t in short supply – and none could succeed without the support of many other people.

Millions voted for Hitler, other politicians backed the laws that enabled him to seize power and many officials helped implement the racist laws that led to the Holocaust. There is no need to look to genes to explain why many individuals try to become dictators – the far more pressing question is why we let them.

Sperm are selfish – and so are we

A new study hammers home how the "survival of the nicest" view makes no sense when it comes to evolution, says Jonathan R. Goodman

Selfishness is an uncomfortably common biological phenomenon. Recent research showing how genetic mutations accumulate in sperm in middle and older age highlights this. Stem cells that emerge over time make it much more likely that sperm will have disease-causing mutations in older fathers – possibly up to 5 per cent of gametes by age 70, according to the study.

This finding goes further than showing the benefits of having children when younger. The mutated stem cells don’t care whether their deviations lead to problems in potential offspring, as long as their cellular progeny make it to the next generation. It is a great example of how the selfish gene remains the model of evolution we should collectively converge on. Genes don’t act for the benefit of anything but themselves. And no matter how often some people try to defend a “survival of the nicest” view in biology, explanations always have to come back to genetic selection.

The broader debate is old and tired, and hinges on whether you want to believe that evolution via natural selection favours cooperation and friendliness or competitiveness and a cold, calculating organism designed to reproduce successfully at any cost. For the past century or so, many biologists have labelled these contrasting views of evolution group versus individual selection. The difference between them is fundamental to how we view the natural world – and each other.

The split between the two views has always been across ideological lines. Early ethologists thought that organisms act for the good of the species. If I survive, according to this view, it is good for all people, because there will be another person who can at least potentially contribute to the perpetuation of Homo sapiens. Helping each other is an obvious route to achieving this shared goal.

The problem – as nearly every major biologist has pointed out, from Ronald Fisher, who combined Charles Darwin’s theories with genetics, to modern writers like Richard Dawkins – is that organisms that accept help without providing it to others will always do better in the game of life. Individuals that subvert their groups are best-placed for success – assuming the damage they cause isn’t so horrendous it kills off every other group member.

The individual’s optimum, from an evolutionary point of view, is then to promote cooperation among others while withholding cooperation themselves – and ideally, without anyone knowing they are doing so. Cooperation, rather than leading to selection for nice, helpful qualities, just creates an environment where competing or exploiting is most effective when it is undetected.

The problem of subversion undermines groups, whether we are talking about gametes, bacteria, animals or people. The stem cell that reproduces at the expense of the organism’s offspring is blind to whether its success harms future generations. The good of the host, let alone the host’s species, is irrelevant.

The same holds true for human societies, ancient or modern. Those with power – globally, this is often older men – monopolise groups however they can, and often choose younger women for themselves. Given the negative consequences of older men remaining reproductively active, as evidenced by the new research on sperm, it is hard to understand how anyone can take the group selection model seriously.

Most importantly, though, is that these unpleasant truths about our biological heritage don’t need to define how we behave today. Mutual aid is something we should aim for, not take for granted – and recognising our selfish heritage, at every biological stage down to our genes, is the first step towards overcoming it.

Jonathan R. Goodman is author of Invisible Rivals: How we evolved to compete in a cooperative world

Ancient DNA may rewrite the story of Iceland's earliest settlers

Biochemical evidence suggests Norse people settled in Iceland almost 70 years before the accepted arrival date of the 870s, and didn't chop down the island's forests

Norse people may have lived in Iceland almost 70 years earlier than historians thought, and their arrival might not have been the environmental disaster it is often portrayed as.

Historical accounts suggest that people first settled in Iceland in the 870s. This early migration is often depicted as an ecological disaster driven by Viking raiders or Norse settlers as they cleared the island’s forests for fuel, building material and fields. Forests now cover just 2 per cent of the country.

Firm evidence for when the first settlers arrived has been hard to come by. Archaeologists have unearthed an ancient wooden longhouse near the fjord of Stöðvarfjörður in the east of Iceland dating to around AD 874, underneath which is an older longhouse thought to be a summer settlement built in the 800s rather than a permanent home, but this finding hasn’t yet been reported in a scientific paper.

Now, Eske Willerslev at the University of Copenhagen, Denmark, and his colleagues have examined environmental DNA (eDNA) extracted from two sediment cores drilled at Lake Tjörnin in central Reykjavík, one of Iceland’s earliest and longest-occupied settlements, to see which species were present when. By examining layers of volcanic ash and using radiocarbon dating and plutonium isotope analysis, the researchers put together a timeline spanning from about AD 200 to the modern day, aligned with known historical events.

One key marker they used is known as the Landnám tephra layer, the ash and fragments left over from a volcanic eruption in about AD 877. Most evidence of human occupation in Iceland sits above this layer, so it was laid down after the eruption.

“Signs below the tephra are like the smoking gun that there was earlier human activity,” says Chris Callow at the University of Birmingham, UK, who wasn’t involved in the study.

Willerslev and his colleagues suggest people arrived almost 70 years before that mark: about AD 810. That is because at this point, they saw an increase in a compound known as levoglucosan, an indicator of biomass burning, as well as a rise in viruses associated with sewage.

“If it had been 850, I wouldn’t have been so surprised, but 810 is early for Viking expansion in the North Atlantic,” says Callow. “Overall, this is a nice confirmation of what we might have suspected, but it’s still quite controversial to have a date as early as 810.”

Putting together this comprehensive environmental history of the region is phenomenal, but the evidence for such an early date isn’t conclusive, says Kathryn Catlin at Jacksonville State University in Alabama. “When it comes to sewage biomarkers, there is a little bump around 800 and then nothing until 1900. Where are all the indicators of humans in sewage biomarkers and the intervening time period?” she says. And although biomass burning can indicate the presence of people, fires can also be caused by natural sources like lightning, she adds.

Willerslev and his colleagues, who declined to speak to

New Scientist

Contrary to the conventional view of rapid deforestation, eDNA from pollen revealed that birch and willow trees expanded during the settlement period. For example, birch pollen grains increased fivefold between AD 900 and 1200, which the researchers think could have been down to deliberate management, keeping livestock away from trees to ensure settlers continued to have easy access to wood for timber and fuel.

“This is the nail in the coffin for that old just-so story of the Vikings getting to Iceland and then, suddenly, ‘oh no, the environment is destroyed’,” says Catlin.

Noticeable numbers of sheep, cattle, pigs and horses don’t appear until several decades after the initial settlement, which Willerslev and his colleagues suggest is because it would have taken about 20 years to build big enough herds to be detectable in the eDNA record.

Callow suggests an alternative reason: it could be that the first people didn’t bring many animals with them because they were coming just for the summer season in search of walrus ivory. “They could have been killing a few walruses and then going home again,” he says.

The eDNA suggests that pronounced loss of biodiversity, including birch and willow trees, didn’t occur until after 1200. Willerslev and his colleagues suggest this was associated not with the presence of settlers, but with climate cooling related to the Little Ice Age

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Our bodies are ageing faster than ever. Can we hit the brakes?

All over the world people are ageing more rapidly and succumbing to diseases that typically affected the elderly. But there are ways to turn back the clock on your biological age

A decade or so ago, I had my biological age measured. I was in my mid 40s at the time and was fit, slim and a disciplined eater. When the results came back, I was gratified to discover that I was, biologically, quite a bit younger than my age. Around six years, if I remember correctly.

I dread to think what it is now. In the intervening years, I have gained weight, stopped exercising as much, experienced multiple heatwaves and been through an extremely traumatic event, the suicide of my wife. I definitely feel all of my 55 years, and I wouldn’t be surprised if I’m biologically older.

If so, I wouldn’t be alone. In the past few years, scientists have discovered a troubling trend in biological ageing. All over the world, people are getting older faster. Those born after 1965 are ageing, biologically, more rapidly than people born a decade earlier, and diseases that were once considered to be a scourge of the elderly are becoming ever-more common in younger people.

“Cancers are increasing in younger age populations, people under 40 years of age have more heart attacks, more diabetes,” says Paulina Correa-Burrows, a social epidemiologist at the University of Chile in Santiago. “Why? My answer is because we’re ageing faster.”

The reasons for this shift are starting to become clear. Some, unfortunately, are unavoidable. Many, thankfully, are modifiable. So, how can we endeavour to keep our biological and chronological ages in step?

The best way to measure how rapidly somebody is ageing is by measuring their biological age and then doing so again a few months or even years later. The most accepted tool for this, says Antonello Lorenzini at the University of Bologna in Italy, is epigenetic clocks, tests that analyse modifications to DNA. These aren’t perfect – precise biological ages should be taken with a grain of salt – but they are enough for telling who, out of a group of participants, is ageing faster or slower.

“Some people are 10 years or more younger or older, biologically, than their actual age“

These tests recognise that chronological age – the number of years someone has lived – isn’t always a good indicator of how far along the ageing trajectory they are. In fact, it can be way off. For most people, there is a reasonably good correspondence, but some people are 10 years or more younger or older, biologically, than their actual age. And unlike chronological age, biological age can go down as well as up.

The first suggestions that biological ageing is accelerating came from the world of obesity research. In 2016, a team led by Beatriz Gálvez at the National Centre for Cardiovascular Research in Madrid, Spain, noted that the biological effects of obesity overlap substantially with those of ageing. Both are hallmarked by dysfunction of the white adipose (fat) tissue, leading to metabolic conditions, widespread inflammation and damage to multiple organs, including the kidneys, bones and those of the cardiovascular system.

Impacts of obesity

These effects are usually directly attributed to obesity itself. But Gálvez wondered whether the causality is more indirect: obesity leads to premature ageing, which leads to the early onset of the diseases of old age. She and her colleagues coined the term “adipaging” to capture this relationship, and proposed that “to a great extent, obese adults are prematurely aged individuals”.

A couple of years later, Lorenzini and his colleagues took the idea and ran with it. They started from an influential 2013 research paper called “

The hallmarks of aging”, which describes nine molecular and cellular causes of age-related diseases.

Lorenzini compared these with the consequences of obesity and found strong parallels. Both obesity and ageing lead to imbalanced nutrient sensing, altered intercellular communication, disturbances in protein metabolism, dysfunction of energy-producing mitochondria in cells, and cell senescence, when cells stop dividing but remain alive.

“I think that fits very well with accelerating ageing,” says Lorenzini. “For many of the chronic diseases of our time, the major factor is ageing. So, of course, if you accelerate ageing, you will accelerate everything.” That includes death: the life expectancy of people over 40 with obesity is reduced, by about six years in men and seven in women.

Various attempts have also been made to measure whether the biological clocks of people with obesity really do tick faster. In 2017, for example, a team largely from the University of Tampere in Finland reanalysed archived blood samples from a group of 183 people taken 25 years apart: first during the teenage years or young adulthood, then again in middle age. The participants’ body mass index (BMI) was recorded when the samples were taken, so the researchers knew which of them had become obese.

As expected, those who had gained a lot of weight had aged more biologically than they had aged chronologically, some by more than 10 years. Those who had remained lean had less of a mismatch. (The team also wanted to see what had happened to the rate of ageing in people who had lost weight, but there weren’t enough people in this category to do the analysis.)

A similar study in women in their 20s, 30s and 40s also found that a higher BMI was associated with an older biological age, with each rise of 1 kilogram of weight per metre of height squared adding about 1.7 months. Another discovered that increased biological age was associated with various measures of obesity – BMI, waist-to-hip ratio and waist circumference – in women aged 35 to 75. Those with a BMI of 35 or more, putting them firmly in the obese category, were on average 3.15 years biologically older than women of the same chronological age who were a healthy weight.

Cause and effect

None of these studies, however, proved the direction of causality. It is possible that obesity accelerates biological ageing, but also that an increase in biological age somehow leads to obesity.

Last year, researchers in Beijing teased these possibilities apart. They reanalysed data on tens of thousands of people who had been enrolled in a previous study and whose BMI, waist circumference and waist-to-hip ratio had been recorded on several occasions, along with five measures of their biological age. Applying a statistical method that can indicate the direction of causality, the researchers showed that obesity causes accelerated ageing compared with people of a healthy weight, to the tune of around three years.

These studies all point in the same direction, says Lorenzini. “We are moving from hypothesis to data. The data is piling up.”

The latest addition to this pile comes from the lab of Correa-Burrows and her colleagues at the University of Chile. They piggybacked on a research project called the Santiago Longitudinal Study, which started in 1992 and followed around 1000 people from birth up to their late 20s, originally to study the effects of nutrition on health in children and young adults.

Correa-Burrows and her team recruited 205 participants who had made it all the way through the study. They were aged between 28 and 31 and comprised three groups: those who had maintained a healthy weight throughout life, those who had been obese since adolescence and those who had been obese since early childhood. There were already masses of data on these people, including their BMI throughout the study, but Correa-Burrows also used epigenetic clocks to measure their biological age.

What she found was very clear. Those in the healthy weight group had, on average, biological ages slightly lower than their chronological age. But those in both obese groups were biologically older than their chronological age. This was by an average of 4.2 years in the obese-since-adolescence group and 4.7 in the obese-since-childhood group. A few had biological ages over 40.

“We were expecting to find that, but we never expected the magnitude of difference that we saw in some individuals,” says Correa-Burrows. “Some of them had a 50 per cent gap between their biological age and the chronological age, which is huge.” It is now generally accepted in geroscience circles that obesity speeds up the ageing process, she says.

Accelerated ageing is also attracting the attention of researchers outside the obesity field. Premature ageing is a well-known phenomenon among adult survivors of childhood cancer, who often become frail and die early as a result of the aftereffects of their illness and treatment. They are also at a higher-than-average risk of developing an unrelated cancer in later life. That may be because they are genetically predisposed to cancer, but this can’t fully explain the elevated risk.

The cancer factor

Last year, Paige Green at the US National Cancer Institute in Bethesda, Maryland, had a brainwave. Cancer is typically a disease of old age, and the survivors of childhood cancer were ageing prematurely. Maybe they were more vulnerable to cancer because they were biologically older than their chronological age. And not just that: accelerated ageing in the general population might also explain the rise in early-onset cancer, heart failure and strokes.

“Cancer used to just be considered a disease of ageing,” says Jennifer Guida, an independent researcher who was formerly Green’s colleague. “Now people are being diagnosed with colon cancer in their 30s, breast cancer in their 30s. Why is that? Perhaps some of the processes of ageing are acting earlier and causing ageing to accelerate, which then causes early-onset cancer.”

Green, Guida and their colleague Lisa Gallicchio wrote the idea up in the journal

JAMA Oncology

In fact, a team has already done that. Last year, Ruiyi Tian at Washington University in St. Louis, Missouri, told the American Association for Cancer Research’s annual meeting in San Diego, California, that she and her colleagues had analysed blood samples from nearly 150,000 people stored in the UK Biobank, looking for signs of accelerated ageing. The participants were aged between 37 and 54 when they had their blood taken. Measuring their biological age revealed that those on the younger end of the age spectrum, who had been born after 1965, were 17 per cent more likely to show signs of accelerated ageing than the older ones, born between 1950 and 1954. The researchers also found that accelerated ageing increased the risk of early-onset cancers of the lungs, gastrointestinal tract and uterus.

“Accumulating evidence suggests that the younger generations may be ageing more swiftly than anticipated,” Tian told the association’s press office at the time. (The results haven’t been published in a peer-reviewed journal and Tian and her supervisor didn’t respond to requests for further information.)

All in all, it seems we have created a world that not only promotes obesity – known as the obesogenic environment – but also ages us. Perhaps we need a new shorthand for it. I suggest the “senesogenic environment”, derived from the Latin verb senescere (“to grow old”).

So, if younger people are ageing more rapidly, what is the cause? Obesity is the main one. “We have a huge obesity problem in places that have a Western-type diet,” says Guida. Obesity rates in 5 to 19-year-olds increased 1000 per cent between 1975 and 2022, according to the World Obesity Federation, and children with obesity tend to remain obese as adults. “Obesity’s prevalence has kept rising despite governmental efforts to try to reduce the rates, and by 2030, 1 billion people in the world will be obese,” says Correa-Burrows.

What drives accelerated ageing?

The mechanism by which obesity leads to accelerated ageing is a bone of contention. It may be that carrying around too much fat is a direct cause, possibly because it promotes long-term inflammation. “When you have chronic inflammation, it triggers these biochemical ageing signatures,” says Correa-Burrows.

Alternatively, it could be that flooding the body with excess calories causes both obesity and ageing. Lorenzini favours this hypothesis, noting that many of the pathways associated with the ageing process are involved in nutrient sensing. It is well established that switching these pathways off in animal models – using drugs or caloric restriction – activates repair processes and retards ageing. Maybe people with a high-calorie, morning-noon-and-night diet chronically stimulate the pathways, so their body never has a chance to fix the damage that leads to ageing.

Obesity isn’t the only culprit, however. “Anything that increases hormones related to stress, particularly cortisol, is going to have an adverse effect in terms of your biological ageing rate,” says Correa-Burrows. “Pollution has this effect. Early childhood adversity also. Trauma.” Exposure to heatwaves has also been found to speed up biological ageing (see “Heatwaves and premature ageing“), maybe because it activates stress hormones.

People are also more sedentary than they used to be, says Guida. “All these things feed into each other to create this perfect storm.”

Winding back the biological clock

So how can you avoid becoming old before your time? “A lot of it comes down to lifestyle change,” says Guida. “Exercise is probably the biggest thing that you can do to slow your ageing. We know caloric restriction works too, but it’s not always feasible for everybody. Sleep is a great way to promote restoration and repair. And avoiding alcohol and smoking.”

Down the road, drugs might also help. The type 2 diabetes medicine Ozempic, a GLP-1 receptor agonist, was recently shown to slow the rate of ageing, and another study found that this drug family is also linked to a lower risk of obesity-related cancers. But we don’t yet know enough about the long-term effects to recommend them as an anti-ageing strategy, says Correa-Burrows.

The good news, however, is that even if your biological clock has outpaced your chronological clock, lifestyle changes can throw it into reverse. “There are ways to synchronise both clocks or even put your biological clock below your chronological clock,” says Correa-Burrows. “Most of the interventions are based on changes in your lifestyle: exercising and changing your diet.” OK, I get it. Time to lose some weight and get active again. I doubt I can get back to being biologically six years younger than my age. Fifty-five would suit me just fine, though.

Accelerated ageing isn’t just caused by obesity, stress and pollution (see main story). Climate change is also making us age faster.

Earlier this year, Eun Young Choi and Jennifer Ailshire at the University of Southern California in Los Angeles analysed biological age data from 3686 adults aged 56-plus across the US, and cross-referenced it against climate records going back six years. They found that people who had been exposed to more hot days were ageing more rapidly, with each 10 per cent increase in exposure adding 1.4 months to their biological age.

And in August, a team led by Cui Guo at the University of Hong Kong analysed data from nearly 25,000 adults in a medical screening programme in Taiwan. The researchers estimated the participants’ biological age and tallied their exposure to heatwaves – defined as periods of abnormally hot weather lasting for more than 48 hours – in the preceding two years. They found that people with a greater cumulative exposure to heatwaves were ageing faster than those with less exposure. Each four-day increase in total heatwave exposure was associated with a rise in biological age of about nine days. Totted up over a typical lifetime, this adds up to about five months.

The mechanism by which heatwaves accelerate ageing isn’t clear, according to Paul Beggs, an environmental health scientist at Macquarie University in Sydney, Australia. But we know that acute heat exposure can damage the brain, heart and kidneys, and disrupt sleep.

Would a ban on genetic engineering of wildlife hamper conservation?

Some conservation groups are calling for an effective ban on genetic modification, but others say these technologies are crucial for preserving biodiversity

Should we genetically modify wild lions? Of course not, might be your instant response. But what if lions were being wiped out by a devastating disease introduced by people? What if the genetic change was a tiny tweak that makes them immune to this disease, of the sort that might evolve naturally given enough time and enough dead lions?

These kinds of questions are dividing conservationists, and matters are about to come to a head. In the coming week, at a meeting of the International Union for Conservation of Nature (IUCN) – the world’s leading conservation organisation – delegates will vote on a motion that would “pause” any form of genetic engineering of wildlife, including the introduction of modified microbes.

“I have no idea how the vote will go,” says Piero Genovesi at the Institute for Environmental Protection and Research in Italy, who helped draft an open letter opposing the proposed motion.

An IUCN moratorium on synthetic biology would have no legal force, but it could still have far-reaching effects. For instance, many conservation organisations might stop funding work involving genetic engineering, and some countries could make such a ban part of national laws.

“The moratorium would certainly be problematic on many levels,” says Ben Novak at Revive & Restore, a US-based non-profit that aims to use biotechnologies to rescue endangered and extinct species.

Why is this happening now? In a word, CRISPR. In 2014, it was shown that CRISPR gene-editing technology can be used to create gene drives – basically, a piece of DNA that gets passed down to all offspring, rather than the usual half. This means a gene drive can spread even if it is harmful and could, in theory, be used to wipe out invasive species. Gene drives could also be used to spread beneficial traits, such as disease resistance.

At a conference in Hawaii in 2016, there was talk of using gene drives to get rid of the invasive mosquitoes that have wiped out half of Hawaii’s native bird species, says Genovesi. Some conservationists were enthusiastic; others were horrified.

That triggered the events leading to the proposed moratorium. “Gene drives are being pushed quite strongly by some as the panacea for dealing with all sorts of environmental problems,” says Ricarda Steinbrecher at EcoNexus, a research organisation that is among those backing a moratorium.

But the broad wording of the proposed motion applies to far more than gene drives. It would rule out most de-extinction efforts, for instance, and could also be seen as banning live vaccines.

Steinbrecher says a moratorium is a pause, not a permanent block, and that there could be another vote to end it “when we have more data”. But some of those backing the ban are campaign groups opposed to any genetic engineering, so it is hard to see what would change their minds. “I am afraid it could be a very long ban,” says Genovesi.

Take the idea of using gene editing to make wild animals resistant to diseases. Steinbrecher says gene editing could have unintended side effects. But the evidence we have suggests the risks are low – which is why several gene-edited foods are already being eaten, and why the first CRISPR treatment for people got approved last year.

The same benefits-versus-risks considerations apply with conservation. Is it really better to stand by and watch coral reefs being wiped out by global warming than to, say, release genetically engineered algal symbionts that give corals more heat tolerance?

A key issue is scalability, says Novak. Divers transplanting corals by hand are never going to save reefs. “This is where synthetic biology tools are vital,” he says. “The overall goals of restoring 30 per cent of land to nature, of saving species, etc, will not be attainable without synthetic biology.”

Ultimately, this is about competing visions of nature. Some see nature as pristine and sacrosanct, and are appalled by the idea of any genetic meddling. But humans have been transforming nature ever since we wiped out most megafauna. We are already unintentionally meddling genetically by imposing all kinds of selection pressures.

Hunting, pollution, pesticides, invasive species and introduced diseases are forcing many plants and animals to change to survive. Some elephant populations are nearly tuskless, for instance.

Of course, this doesn’t mean that more meddling will make things better. There are indeed serious risks to releasing gene drives – for instance, gene drives designed to wipe out invasive species might spread to the native range of the target species.

But researchers are very aware of the risks. And there are ways to reduce them, for instance by making gene drives self-limiting so they cannot just spread indefinitely.

“We are facing a dramatic crisis of biodiversity,” says Genovesi. “We shouldn’t close the door to new tools that could help us combat some of the major threats.”

Conservation and rewilding in the Central Apennines: Italy

Journey into Italy’s Central Apennines region for a fascinating introduction to the concept and practicalities of rewilding.

Chinese scientists create tool to precisely edit millions of DNA segments

The new programmable chromosome engineering systems can manipulate DNA bases with 3.5 times more efficiency than original enzyme editor.

Developed by enhancing existing gene-editing method, the new programmable chromosome engineering systems can manipulate DNA fragments with 3.5 times more efficiency than the original enzyme editor.

The human genome holds about three billion base pairs within each cell. Although tools like Crispr have revolutionized the editing of single genes and individual nucleic acid bases, researchers have found it far difficult to accurately alter larger stretches of DNA involving thousands or millions of bases.

Now, a team of Chinese scientists led by Gao Caixia, principal investigator at Chinese Academy of Sciences’ Institute of Genetics and Developmental Biology, has cracked a decades-old challenge in genetic engineering by creating a tool that can precisely manipulate millions of DNA base pairs—the fundamental units of life’s code. 

The advancement has been described as very significant progress by professor Yin Hao, a gene-editing expert at Wuhan University’s medical research institute, who was not part of the research. Speaking to the

South China Morning Post (SCMP)

Major leap in plant genome editing with PCE systems

As part of their study, the scientists enhanced a decade-old gene-editing method, making it far easier to use and significantly more efficient. Published in the peer-reviewed journal

Cell

This breakthrough could reshape research in fast-growing fields like agricultural seed cultivation and synthetic biology. The Beijing branch of the Chinese Academy of Sciences stated that by enabling manipulation of genomic structural variation, the technology will open up new avenues for improving crop traits and treating genetic diseases. It may also speed progress toward artificial chromosomes, which hold vast potential for next-generation applications in synthetic biology,

SCMP

Professor Yin explained that the journey started with Cre-Lox, a key enzyme in biomedicine widely used to insert, invert, or replace large DNA segments and perform other genetic edits. However, since its discovery in the 1980s, Cre-Lox’s limitations have discouraged researchers. Its efficiency drops significantly as the size of the targeted DNA fragment grows, and the enzyme often leaves behind “scars,” complicating further genetic work.

Advances in genome editing promise more permanent DNA changes

The Wuhan-based scientist noted that because the edited DNA sequences could be reversed, the changes were often temporary despite extensive efforts to achieve specific genetic modifications. 

This is where Gao and her team stepped in. Focusing on genome editing technologies, especially in agriculture—they redesigned and optimized editing strategies to overcome these challenges, resulting in new methods that significantly advance the field.

This new PCE technique offers precise manipulation of DNA fragments with efficiency more than 3.5 times that of the original enzyme editor, while eliminating scarring and minimizing the risk of reversal.

While scientists previously needed to edit 1,000 seeds to find just one with the desired traits, the enhanced tool now cuts that number down to only 100, significantly easing workload for researchers. Furthermore, it is expected that PCE systems will eventually replace existing Cre-Lox systems in laboratories worldwide, introducing greater efficiency to both medical research and agricultural engineering.

Gene-hacked microbe pulls rare earths and traps carbon 58x faster than nature

Microbe replaces machines and chemicals to mine rare earths—and turns rocks into carbon capture vaults.

In the war for clean energy and climate survival, scientists have found an unlikely ally: a metal-eating microbe.

Tiny but tenacious,Gluconobacter oxydans is being reprogrammed to replace heavy machinery and toxic chemicals in the extraction of rare earth elements.

But this microbe isn’t just pulling metals from stone. It’s also accelerating the Earth’s natural ability to trap carbon dioxide, offering a two-for-one deal in the fight against climate change.

Acid, genes, and alchemy

Armed with genetic tweaks that turbocharge its acid production and unlock hidden biochemical abilities, G. oxydans is proving to be more efficient than ever.

In new research, scientists at Cornell University boosted its rare earth extraction power by up to 73 percent—without the environmental damage of traditional mining.

The same microbe can also accelerate natural carbon capture by 58 times, transforming ordinary rocks into long-term CO₂ storage systems.

“More metals will have to be mined in this century than in all of human history, but traditional mining technologies are enormously environmentally damaging,” said Buz Barstow, associate professor of biological and environmental engineering in the College of Agriculture and Life Sciences, in a release.

“Currently, the U.S. has to obtain almost all of these elements from foreign sources, including China, creating a risk of supply-chain disruption.”

Metals like magnesium, iron, and calcium naturally react with carbon dioxide to form minerals that lock the gas away for good. Cornell’s engineered microbes supercharge this process by breaking down rock faster, exposing more metal to CO₂, and turning the Earth itself into a carbon trap.

“What we’re trying to do is take advantage of processes that already exist in nature but turbocharge their efficiency and improve sustainability,” said Esteban Gazel, the Charles N. Mellowes Professor in Cornell Engineering.

Cracking carbon with microbes

To push the microbes’ potential further, Cornell scientists dug into its genetic blueprint. In one study, they discovered that with just two genome edits, G. oxydans could become far more effective at dissolving rock—one tweak increased acid production, while the other removed internal limits, dramatic increasing rare earth recovery.

But acid wasn’t its only tool. A second study revealed that the microbe uses other, previously unknown pathways to extract metals. By knocking out genes one by one in a high-performing strain, researchers identified 89 genes tied to bioleaching—68 of which had never before been linked to the process. That breakthrough helped boost extraction efficiency by more than 100 percent.

In parallel, a third paper showed that G. oxydans can speed up natural carbon capture without relying on high temperatures, pressure, or harsh chemicals. As it breaks down magnesium- and iron-rich rocks, those elements bind with carbon dioxide to form solid minerals like limestone, permanently locking the carbon away.

“This process can occur in ambient conditions, at low temperature, and it doesn’t involve the use of harsh chemicals,” said Joseph Lee, a Ph.D. student and lead author. “It naturally draws down CO2 and stores it permanently as minerals. We’re also recovering other energy-critical metals like nickel as byproducts. It’s a two-fold solution.”

With funding from the National Science Foundation, the Department of Energy, Cornell Atkinson, and alumni donors, the work is now moving from the lab to the real world.

The research, published in Communications Biology and Scientific Reports, was led by Alexa Schmitz, now CEO of REEgen, an Ithaca-based startup working to commercialize the technology.

Superhumans exist: Rare genetic mutation gives some people a phenomenal advantage

Science says some people could thrive on just four hours of sleep, feeling completely rested and ready to go. 

EDIT THE MESSENGER

Monica Coenraads admits that as a first-time parent who hadn’t spent much time around children, she was slow to notice that something was wrong with her daughter, Chelsea. By the time Chelsea was 1 year old, however, her development had obviously stalled and even begun to reverse. She only learned to speak one word and soon stopped saying anything. Chelsea could only walk if someone held her upright. She lost the ability to grasp and instead began “making repetitive movements with her hands” such as clapping, says Coenraads, whose family lived in Virginia at the time.

“I was desperate for a diagnosis,” Coenraads says. But when she finally got one, when Chelsea was 2, “it was a double gut punch.” Not only did Chelsea have Rett syndrome, an untreatable neurological disorder, but scientists knew little about the condition. They understood it primarily affected girls and was likely due to a mutation, but they hadn’t identified the genetic culprit.

That was in 1998. Today, Coenraads and her husband are still caring for Chelsea, now 28, who is unable to speak, walk, or use her hands. She requires medications to quell seizures, reduce anxiety, and help her sleep. The genetic glitches behind the disease are now known: usually mutations in the gene MECP2, which controls gene activity in many organs, including the brain. Like other parents of children with Rett syndrome, Coenraads 
wishes scientists would hurry up and develop treatments. But as the founder and CEO of the Rett Syndrome Research Trust, she’s in a position to do something about it.

In addition to funding a range of strategies to correct or replace faulty DNA, her organization is backing an unconventional approach. The trust has poured $8.5 million—more than 10% of the money it has doled out for research—into efforts to edit the strands of RNA encoded by mutated MECP2. In doing so they are bolstering a nascent but promising approach to treating diseases: editing the RNA blueprints for proteins. “Our goal is to fertilize the field,” Coenraads says.

She isn’t the only person who’s enthusiastic about the potential of RNA editing. This alternative to the gene editor CRISPR and other DNA-modifying therapies “is taking center stage,” says bioengineer Thomas Gaj of the University of Illinois Urbana-Champaign. Edited RNAs could be easier to deliver to cells than DNA-based treatments, and the strategy might be safer, too.

So far, no RNA editing therapy has emerged for Rett syndrome. But in a potential landmark for the field, Wave Life Sciences announced last week in a press release that its RNA-editing approach had boosted production of a normal protein in people with a life-threatening genetic disease that harms their liver and lungs.

Besides Wave, three other biotechs—Ascidian Therapeutics, Rznomics, and HuidaGene—have begun to test treatments in patients with eye diseases or cancer. Still more companies are racing to develop their own therapies, often in partnership with Big Pharma, while academic labs delve deeper into editing mechanisms.

RNA editing is “not a replacement for CRISPR. It’s another weapon against disease,” says bioengineer Jonathan Gootenberg of Harvard Medical School, whose lab has developed novel approaches for modifying RNA. Researchers are still working to refine the technology on multiple fronts: increasing its efficiency and precision, improving ways to deliver the necessary molecules, and curbing side effects. Selecting the right diseases to target is also crucial, says bioengineer Aravind Asokan of the Duke University School of Medicine. “Everything boils down to careful choice of the application.”

FOR MANY PEOPLE, the novel COVID-19 vaccines that rely on RNA resurrected dim memories of high school biology classes, where they learned that the double-stranded DNA of a gene merely stores the instructions for making a protein. To actually assemble one, cells transcribe a gene into a messenger RNA (mRNA); it conveys the protein’s blueprint to tiny molecular factories called ribosomes, which link amino acids together to fashion the protein. The synthetic mRNA in the COVID-19 vaccines exploits this biology to trick cells into making viral proteins that spur immunity.

At least a dozen approved therapies for genetic diseases, including one that relies on CRISPR, change a person’s DNA. These treatments take aim at sickle cell anemia, one type of muscular dystrophy, and several other illnesses. DNA-modifying therapies for numerous other conditions are under development—more than 40 clinical trials are testing CRISPR-based strategies alone. However, “making genetic alterations in RNA instead of DNA has some huge advantages,” says molecular biologist Joshua Rosenthal of the University of Chicago’s Marine Biological Laboratory, who co-founded an RNA editing company, Korro Bio.

For one thing, editing mRNAs does not entail the risk of incorrectly altering a person’s genes, a change that could be permanent. In contrast, because the revised RNAs quickly break down in the body, the results of editing are temporary, making it easier to end a therapy and curtail side effects. That makes RNA editing more like other medicines. “Most treatments aren’t permanent,” Rosenthal says. “You don’t take a permanent aspirin.”

In addition, CRISPR relies on bacterial enzymes, such as Cas9, to cut DNA, and they can provoke the immune system. “You have a foreign protein that you are putting inside human cells,” says bioengineer Prashant Mali of the University of California (UC) San Diego. Some RNA editing approaches researchers are developing (see graphic, below) avoid that risk.

RNA editing occurs naturally in cells. For example, mRNAs start out as longer rough drafts known as pre-mRNAs before cells prune sequences that don’t encode sections of proteins. Scientists first suggested harnessing these RNA-modifying mechanisms to fight disease in the mid-1990s, although they lacked the tools to do so. Now, after 2 decades of advances in genetic technologies and in other RNA-based therapies, such as small interfering RNAs (siRNAs) and antisense RNAs that dial down production of harmful proteins, RNA editing may be poised to take off.

MANY OF THE TREATMENTS now in development recruit a cellular mechanism that fine-tunes RNA so that it won’t provoke our immune system. Although our mRNAs begin as single strands, “all RNAs fold up, they can’t help it,” says biochemist Brenda Bass of the University of Utah. When these molecules double over, they can trip a cellular alarm for viruses—which also often carry double-stranded RNA—and unleash inflammation.

As Bass and a colleague discovered in the late 1980s, cells often replace one building block in their mRNA molecules, adenosine, with another molecule known as inosine. This swap tags cellular RNAs as nonthreatening. 
Because these A-to-I conversions, as scientists call them, frequently occur in the portions of mRNA molecules that don’t encode parts of a protein, they usually don’t affect the final amino acid sequence. However, “Without them, everyone would have an autoinflammatory disease,” Bass says.

Enzymes known as ADARs (for adenosine deaminases acting on RNA) pull off the A-to-I switch. RNA-editing treatments that engage these enzymes are promising because many inherited diseases stem from gene mutations that change another building block, guanosine, to adenosine at specific locations in an mRNA molecule. By replacing the adenosine with inosine, ADARs can essentially correct the mistake, because the cell’s proteinmaking machinery reads the inosine in the mRNA as a guanosine. To enlist an ADAR, researchers craft a guide RNA, a short strand whose sequence complements the sequence of part of the mRNA they want to target. This custom synthetic sequence, known as an oligonucleotide, 
recognizes and binds to the portion of the mRNA carrying the adenosine to be replaced, forming a double-stranded structure that attracts the corrective enzyme.

DNA analysis of 1898’s lions reveals surprising diet, including human, giraffe, zebra

In the year 1898, two big male lions created chaos in Kenya. These lions caused terror among a group of bridge builders camped along the Tsavo River in Kenya.

These were no ordinary lions. Known as the Tsavo Man-Eaters, they stalked the camp at night, dragging their victims away into the darkness. They claimed the lives of 28 people.

Lt. Col. John Henry Patterson, the project’s civil engineer, was determined to stop the deadly attacks. After a relentless hunt, he managed to kill both lions.

Patterson gave the lions’ remains to the Field Museum in Chicago in 1925.

Fast forward to the present day. Scientists at the museum along with the University of Illinois Urbana-Champaign started a study to unravel the mystery of these infamous man-eaters.

Using advanced techniques like microscopy and genomics, they analyzed prey hairs carefully extracted from the lions’ teeth. These hairs held the key to understanding the lions’ diet and behavior.

The researchers discovered a surprising range of prey, including giraffe, human, oryx, waterbuck, wildebeest, and zebra. The lions even consumed two giraffes. 

CRISPR and Garlic could offer relief from climate-killing cow burps, farts

If the researchers’ efforts are successful, they could potentially eliminate the largest human-made source of methane and significantly impact global warming trends.

Genome of Neanderthal fossil reveals lost tribe cut off for millennia

Genetic analysis of a Neanderthal fossil found in France reveals that it was from a previously unknown lineage, a remnant of an ancient population that had remained in extreme isolation for more than 50,000 years. This finding sheds new light on the final phase of the species’ existence.

The fossil, dubbed Thorin after a character in J.R.R. Tolkien’s The Hobbit, was discovered in 2015 at the Grotte Mandrin in the Rhône Valley in southern France when Ludovic Slimak of the Centre for Anthropobiology and Genomics of Toulouse uncovered some teeth in the cave’s soil. The skeleton was painstakingly excavated over the next nine years to reveal 31 teeth, the jawbone, part of the skull and thousands of other bone fragments.

This was an incredible discovery in itself, as remains of Neanderthals – who lived in Eurasia from around 400,000 years ago until they went extinct around 40,000 years ago – are exceedingly rate.

Even more surprising was that Thorin’s genome could be obtained from a fragment of one of his teeth, as DNA isn’t typically preserved in warm climates. This revealed that the fossil was from a male, but opened up a mystery that took years to solve.

By comparing his genome with those of other Neanderthals, Slimak and his colleagues estimated Thorin lived around 105,000 years ago. However, archaeological evidence and analysis of the isotopes in his bones unequivocally showed that Thorin lived no more than 50,000 years ago – making him a “late Neanderthal” from the final phase of the species’ existence.

“For a very long time we [geneticists] were convinced that Thorin really was an early Neanderthal, just because his genetic lineage was so distantly related to contemporary Neanderthals in the same region,” says team member Tharsika Vimala of the University of Copenhagen. “On the other side, the archaeologists were convinced that he was a late Neanderthal. It took years of work from both sides to get to the answer.”

Eventually, the researchers realised that they must have discovered a hitherto unknown lineage of Neanderthals. Thorin was part of a small group who lived between 42,000 and 50,000 years ago. The group seems to have been a remnant of a far more ancient Neanderthal population that diverged from the main Neanderthal population around 105,000 years ago, and had then stayed genetically isolated for more than 50,000 years.

Thorin’s DNA showed no evidence of interbreeding between his lineage and that of the main Neanderthal population, despite living in close proximity. “Thorin was completely divergent from any other Neanderthals,” says Slimak.

This isolation could have made the group particularly vulnerable. “Long term isolation or inbreeding can be detrimental to a population’s survival as it can reduce the genetic diversity over time, which in turn can have negative effects on our adaptability to changing environments,” says Vimala.

Slimak, Vimala and their colleagues then re-analysed the genome of another Neanderthal that had lived around 43,000 years ago at Les Cottés, France. They found traces of a “ghost population” in its DNA from a breeding event some 15,000 to 20,000 years previously, with another unknown Neanderthal group.

“This means that there must have been not only two populations among late Neanderthals, but very likely three,” says Slimak. Previously it had been thought that at the time before their extinction, the Neanderthals were all part of one genetically similar population.

“The evidence from Grotte Mandrin is fascinating as it gives some intriguing insights into these late Neanderthal populations and their dynamics,” says Emma Pomeroy at the University of Cambridge.

New method uses light to bend DNA strands for better disease understanding

Princeton researchers developed a new tool that enables them to physically move DNA around to study gene expression to never before seen depths.

New gene therapy boosts vision up to 10,000 times in rare eye disease patients

A new gene therapy trial has showcased promise for improving vision in people with a rare genetic disease.

No lab needed: New forensic tech cuts sexual assault DNA test time to 45 mins

First-ever 3D DNA structure of 52,000-year-old woolly mammoth assembled

Last common ancestor of all life emerged far earlier than thought

The plague may have wiped out most northern Europeans 5000 years ago

'Bridge editing' could be even better at altering DNA than CRISPR

‘Powerhouse’ gene to fight obesity discovered by scientists in China

This discovery could help us better understand how genes influence obesity. It might also lead to new ways to treat and prevent the condition.

Obesity is a big health problem worldwide and is connected to serious issues like heart disease and type 2 diabetes. As medical research progresses, we are learning more about obesity. This includes understanding its many effects on health. 

99% gene transmission possible, China’s CRISPR tool boosts food security

The innovation, known as CRISPR-Assisted Inheritance (CAIN), can increase gene transmission rates up to 99% in just two generations!

Wearable ultrasound? New tech targets trouble spots in the brain

Sonogenetics provides researchers with a precise method to control brain activity.

Study explores how Neanderthal’s Y chromosome didn’t pass over to humans

Genetic studies suggest a rapid influx of Neanderthal genes into Homo sapiens roughly 47,000 years ago.

Japanese researchers use body’s own genes to treat rare skin disorders

Skin diseases like epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC) are now treatable through healthy skin transplantation.

How starchy foods shaped human genomes

Starchy foods have played a pivotal role in human evolution, influencing not only our diets but also our genetic makeup.

A recent study has revealed that the rise of agriculture – around 12,000 years ago – and the subsequent increase in starchy staples like wheat and grains, significantly impacted the human genome.

Researchers from the United States, Italy, and the United Kingdom found that our ability to digest carbohydrates has significantly evolved over time. This is closely linked to the rise of agriculture and the increase of starchy foods in our diets.

The evolutionary power of starchy foods

The ability to extract energy from starchy foods has increased remarkably during this period, as shown by an expansion in the number of genes encoding enzymes that break down starch – jumping from an average of eight to over 11.

“The copy number of amylase genes had increased in Europeans since the dawn of agriculture, but we had never been able to sequence this locus fully before. It is extremely repetitive and complex,” said Peter Sudmant, assistant professor of integrative biology at the University of California, Berkeley, and one of the lead authors of the study.

This increase in amylase genes closely matched the rise and spread of agriculture across Europe from the Middle East, aligning with changes in dietary patterns.

Decoding the amylase locus

The researchers meticulously examined the genome’s amylase locus, where the salivary amylase gene (AMY1) and two pancreatic amylase genes (AMY2A and AMY2B) reside.

“If you take a piece of dry pasta and put it in your mouth, eventually it’ll get a little bit sweet. That’s your salivary amylase enzyme breaking the starches down into sugars,” explained Sudmant.

While this happens in all humans and other primates, the human genome contains a significantly higher number of amylase gene copies compared to our primate relatives, such as chimpanzees and Neanderthals, who possess only a single copy of AMY1.

UC Berkeley postdoctoral fellow Runyang Nicolas Lou, one of the study’s co-authors, elaborated: “Our study found that each copy of the human genome harbors one to 11 copies of AMY1, zero to three copies of AMY2A, and one to four copies of AMY2B. Copy number is correlated with gene expression and protein level and thus the ability to digest starch.”

Survival advantage and global adaptation

The presence of multiple amylase genes provided a survival advantage, with the incidence of chromosomes carrying multiple copies increasing sevenfold over the last 12,000 years.

This evolution was not confined to Europe. The researchers found evidence of similar patterns in other agricultural populations globally, regardless of which starchy plant was domesticated.

Erik Garrison, a co-lead author from the University of Tennessee Health Science Center, highlighted the broader implications of the findings: “One of the exciting things we were able to do here is probe both modern and ancient genomes to dissect the history of structural evolution at this locus.”

The dawn of a new method

Another breakthrough in the study was the development of a new method for identifying diseases involving genes with multiple copies, like amylase.

This method also opens doors to exploring rapidly duplicating genes related to the immune system, skin pigmentation, and mucus production.

The research hints at a potential link between higher AMY1 copies and increased tooth decay, though further investigation is needed.

Joana Rocha, a co-author from UC Berkeley, compared the genomic structure of the amylase locus to “sculptures made of different Lego bricks.”

Long-read sequencing techniques allowed the team to reconstruct these complex genetic structures with unprecedented accuracy, shedding light on human evolutionary history and its genetic diversity.

This research, funded by the U.S. National Institutes of Health, is part of an expanding effort to better understand how genetic adaptations have shaped human health and disease through our changing diets over millennia.

Starchy foods and human health

The evolutionary relationship between starchy foods and human genetics continues to shape modern health.

As our ancestors adapted to carbohydrate-rich diets, today’s populations still show varying abilities to digest starch, potentially influencing susceptibility to conditions such as obesity and diabetes.

Understanding this genetic adaptation to starchy foods not only offers insights into our past but also provides valuable information for addressing contemporary health challenges linked to diet and metabolism.

The study is published in the journal Nature.

Gene therapy enables five children who were born deaf to hear

Chinese scientists create 90% lethal Ebola-like virus to study eye disorders

Scientists are optimistic that this new model could help in future research on Ebola-related eye disorders.

Bringing back an ancient bird

Using ancient DNA extracted from the toe bone of a museum specimen, Harvard biologists have sequenced the genome of an extinct, flightless bird called the little bush moa, shedding light into an unknown corner of avian genetic history.

Published in Science Advances, the work is the first complete genetic map of the turkey-sized bird whose distant living cousins include the ostrich, emu, and kiwi. It is one of nine known species of moa, all extinct for the last 700 years, that inhabited New Zealand before the late 1200s and the arrival of Polynesian human settlers.

“We’re pulling away the veil across the mystery of this species,” said senior author Scott V. Edwards, professor in the Department of Organismic and Evolutionary Biology and curator of ornithology at the Museum of Comparative Zoology. “We can study modern birds by looking at them and their behavior. With extinct species, we have very little information except what their bones looked like and in some cases what they ate. DNA provides a really exciting window into the natural history of extinct species like the little bush moa.”  

Bush moa were the smallest of the moa species, weighing about 60 pounds and distributed in lowland forests across the north and south islands of New Zealand. Genomic analysis has revealed their closest living relatives aren’t kiwis, as was originally speculated, but rather tinamous, a Neotropical bird group from which they diverged genetically about 53 million years ago.

The Harvard team offers new genetic evidence for various aspects of bush moa sensory biology. Like many birds, they had four types of cone photoreceptors in their retinas, which gave them not only color but also ultraviolet vision. They had a full set of taste receptors, including bitter and umami. Perhaps the most remarkable trait of these flightless birds is their complete absence of forelimb skeletal elements that typically comprise birds’ wings, the researchers wrote. Studying the moa genome could offer new clues into how and why some birds evolved to become flightless.

The scientists used high-throughput DNA sequencing, which allows rapid sequencing of short DNA fragments of only 101 nucleotide base pairs and the building of libraries with millions of these genetic sections. To produce the bush moa genome, the team sequenced the equivalent of 140 bird genomes, or about 140 billion base pairs of DNA, only about 12% of which was actual moa DNA (the rest was bacterial).

They then assembled the genome, taking each snippet of DNA and mapping it to its correct position. Genome assembly of extinct species is painstaking work that is made more accessible through technologies like high-throughput sequencing. Other species that have been mapped similarly are the passenger pigeon, the woolly mammoth, and our close relative, the Neanderthal. Using an existing emu genome as a guide, they strung together the bush moa’s genetic sequence by finding overlaps between each genetic snippet, essentially reconstructing a long puzzle of 140 billion pieces. 

The bush moa project originated more than 15 years ago in the lab of the late Allan J. Baker, an expert in ancient bird DNA at the Royal Ontario Museum who first extracted and sequenced the bird’s DNA from a fossil recovered on the South Island of New Zealand. Also involved in the initial DNA processing and sequencing was co-author Alison Cloutier, who formerly worked with Baker and later became a postdoctoral researcher in Edwards’ lab at Harvard which inherited the data.

Reconstructing the genome of a long-extinct bird fills in a new branch of the avian family tree, opening doors to study avian evolution, or even someday, to possibly resurrect these species through de-extinction technologies.

“To me, this work is all about fleshing out the natural history of this amazing species,” Edwards said.

Ancient Viruses Linked to Mental Illness

Summary: A new study reveals that ancient viral DNA sequences, once thought to be “junk DNA,” are active in the human brain and contribute to the risk of psychiatric disorders like schizophrenia, bipolar disorder, and depression. This discovery sheds light on the complex genetic factors influencing mental health.

Key Facts:

Source: King’s College London

New research led by King’s College London has found that thousands of DNA sequences originating from ancient viral infections are expressed in the brain, with some contributing to susceptibility for psychiatric disorders such as schizophrenia, bipolar disorder, and depression.

Published in Nature Communications, the study was part-funded by the National Institute for Health and Care Research (NIHR) Maudsley Biomedical Research Centre and the US National Institutes of Health (NIH).

About eight percent of our genome is comprised of sequences called Human Endogenous Retroviruses (HERVs), which are products of ancient viral infections that occurred hundreds of thousands of years ago.

Until recently, it was assumed that these ‘fossil viruses’ were simply junk DNA, with no important function in the body.

However, due to advances in genomics research, scientists have now discovered where in our DNA these fossil viruses are located, enabling us to better understand when they are expressed and what functions they may have.

This new study builds upon these advances and is the first to show that a set of specific HERVs expressed in the human brain contribute to psychiatric disorder susceptibility, marking a step forward in understanding the complex genetic components that contribute to these conditions.

Dr Timothy Powell, co-senior author on the study and Senior Lecturer at the Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King’s College London, said: “This study uses a novel and robust approach to assess how genetic susceptibility for psychiatric disorders imparts its effects on the expression of ancient viral sequences present in the modern human genome.

“Our results suggest that these viral sequences probably play a more important role in the human brain than originally thought, with specific HERV expression profiles being associated with an increased susceptibility for some psychiatric disorders”.

The study analysed data from large genetic studies involving tens of thousands of people, both with and without mental health conditions, as well as information from autopsy brain samples from 800 individuals, to explore how DNA variations linked to psychiatric disorders affect the expression of HERVs.

Although most genetic risk variants linked to psychiatric diagnoses impacted genes with well-known biological functions, the researchers found that some genetic risk variants preferentially affected the expression of HERVs.

The researchers reported five robust HERV expression signatures associated with psychiatric disorders, including two HERVs that are associated with risk for schizophrenia, one associated with risk for both bipolar disorder and schizophrenia, and one associated with risk for depression.

Dr Rodrigo Duarte, first author and Research Fellow at the IoPPN, King’s College London, said: “We know that psychiatric disorders have a substantial genetic component, with many parts of the genome incrementally contributing to susceptibility.

“In our study, we were able to investigate parts of the genome corresponding to HERVs, which led to the identification of five sequences that are relevant to psychiatric disorders.

“Whilst it is not clear yet how these HERVs affect brain cells to confer this increase in risk, our findings suggest that their expression regulation is important for brain function.”

Dr Douglas Nixon, co-senior author on the study and and researcher at the Feinstein Institutes for Medical Research at Northwell Health, in the US, said: “Further research is needed to understand the exact function of most HERVs, including those identified in our study.

“We think that a better understanding of these ancient viruses, and the known genes implicated in psychiatric disorders, have the potential to revolutionise mental health research and lead to novel ways to treat or diagnose these conditions”.

Abstract

Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions

Human endogenous retroviruses (HERVs) are repetitive elements previously implicated in major psychiatric conditions, but their role in aetiology remains unclear.

Here, we perform specialised transcriptome-wide association studies that consider HERV expression quantified to precise genomic locations, using RNA sequencing and genetic data from 792 post-mortem brain samples.

In Europeans, we identify 1238 HERVs with expression regulated in cis, of which 26 represent expression signals associated with psychiatric disorders, with ten being conditionally independent from neighbouring expression signals.

Of these, five are additionally significant in fine-mapping analyses and thus are considered high confidence risk HERVs.

These include two HERV expression signatures specific to schizophrenia risk, one shared between schizophrenia and bipolar disorder, and one specific to major depressive disorder.

No robust signatures are identified for autism spectrum conditions or attention deficit hyperactivity disorder in Europeans, or for any psychiatric trait in other ancestries, although this is likely a result of relatively limited statistical power.

Ultimately, our study highlights extensive HERV expression and regulation in the adult cortex, including in association with psychiatric disorder risk, therefore providing a rationale for exploring neurological HERV expression in complex neuropsychiatric traits.

Oldest known human viruses found hidden within Neanderthal bones

Can genetically modifying a rare marsupial save it from extinction?

CRISPR gene therapy improves vision in people with inherited blindness

Simulated space conditions disrupt 91% of human gene expressions

The study was motivated due to a surge in spaceflights with more and more astronauts undertaking expeditions to space.

Mental health conditions may accelerate ageing by damaging RNA

Anders Jørgensen at the Psychiatric Center Copenhagen in Denmark and his colleagues measured markers of damaged RNA and DNA in more than 7700 people ages 25 and up, almost 3100 of whom had a mental health condition. They focused on markers of oxidative stress, which occurs when highly reactive compounds containing oxygen damage cells. Oxidative stress contributes to age-related diseases like heart disease, dementia and cancer. Sources of the compounds that cause oxidative stress include digestion, smoking and pollution.

The researchers analysed levels of oxidative stress markers in urine samples collected from participants between 2007 and 2013. After taking into account the age and sex of the participants, they found that samples collected from people with a mental health condition had elevated amounts of a particular marker of RNA damage. Levels of the marker were 9 per cent higher, on average, in these samples than in samples from people without a mental health condition.

By tracking participant deaths from the time each of them joined the study until the end of May 2023, the team discovered that those with elevated levels of the marker were also more likely to die during this time. Participants with high levels of the marker and a mental health condition were almost twice as likely to die as those with low levels and no mental health condition.

Together, these findings suggest that RNA damage from oxidative stress may explain the association between mental health conditions and premature death.

Why people with psychiatric conditions experience more oxidative stress is unclear, though, says Jørgensen. “We can only guess. But overall, the level of factors that could cause oxidative stress – like smoking or obesity – are usually higher in people with psychiatric illness,” he says. The study didn’t control for these aspects of health, so they might help explain the increases in oxidative stress.

Identifying exactly which of these factors have the biggest effect will be critical for improving the health of people with mental health conditions, says Jasmin Wertz at the University of Edinburgh in the UK. “So, how much impact can we have by helping [them] reduce their smoking? Getting them to exercise more?” she says.

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Inhalable therapy shows promise in treating lung cancer

Their analysis also showed that specific immune cells (CD8+ T cells) were crucial for the therapy's success, highlighting their role in fighting cancer and building immunity.

Conclusion

The study suggests a breakthrough in treating lung cancer. 

Professor Ke Cheng, the lead researcher, highlighted, "In this new study, we show that inhaled exosomes can efficiently reach the lung and deliver an anti-lung cancer cargo, IL-12 mRNA. This is a major step forward in advancing the development of new inhalable drugs to treat lung cancer, which has one of the lowest five-year survival rates in the world."

This targeted approach avoided harming healthy tissue and boosted the immune system's attack on the cancer. 

This method could lead to safer, more effective treatments for lung cancer, with easier administration and longer-lasting benefits.

While additional human studies are necessary, the findings reveal promising potential for transforming cancer treatment.

Study finds penile fibroblasts are a key player in erectile function

Vaccine for deadly skin cancer shows ‘groundbreaking’ results in clinical trial

New hope may be on the horizon for melanoma patients in the form of a novel skin cancer vaccine.

This week, Moderna announced that its new vaccine has shown promising results in clinical trials.

Among 157 patients with advanced melanoma, the vaccine led to "statistically significant improvement in survival before the cancer returned," according to a statement from Hackensack Meridian John Theurer Cancer Center in New Jersey, which has been participating in the clinical trials.

In the study, the vaccine was used in combination with Merck’s immunotherapy drug, Keytruda.

"Keytruda is a checkpoint inhibitor, meaning it blocks an enzyme that the cancer cell uses to become invisible to the immune system," said Dr. Marc Siegel, clinical professor of medicine at NYU Langone Medical Center and a Fox News medical contributor, was not involved in the vaccine trials.

"Keytruda works well in certain kinds of highly mutagenic cancers, including melanoma, and there is often a very effective response," Siegel told Fox News Digital.

"But the cancer can then mutate away from the impact of the drug and once again become resistant to an immune response."

The patients who took the experimental mRNA vaccine along with Keytruda — all of whom previously had surgery to remove their cancer — saw a 44% reduction in the risk of death or recurring disease compared to those who did not take the vaccine, the companies said.

"This is truly game-changing, groundbreaking stuff," said Dr. Andrew Pecora, an oncologist and researcher at the Hackensack Meridian John Theurer Cancer Center, who has been involved in the clinical trials since they began.

Immunotherapy has been shown to be effective in about half of cancer patients, Pecora noted — but for the other half, the proteins of the tumor are not properly presented to the immune system to be recognized and killed.

"In those cases, the melanoma is kind of hiding out or it doesn't express proteins that well, so the immune system doesn't recognize the proteins as foreign," Pecora told Fox News Digital in a phone interview.

The Moderna vaccine is "revolutionizing" the immune system’s ability to recognize and kill the melanoma, he said.

The vaccine, which Pecora described as "miraculous," is personalized to each patient’s specific tumor.

"You and I may have melanoma, but my melanoma may be very different than yours even though it looks exactly the same under the microscope, because the DNA changes that occurred in mine are different than yours," he told Fox News Digital.

That means a generic cancer vaccine wouldn’t work for everyone, Pecora said.

With the new vaccine, the scientist takes a piece of the person's tumor and precisely determines what parts of the DNA of the tumor are mutated or changed, and then creates a personalized mRNA vaccine that targets those changed pieces of DNA, the doctor said.

"We can literally vaccinate the person against their tumor-specific proteins, overcoming one of the limitations of current immunotherapy," he said.

"The simultaneous use of an mRNA vaccine seems to show improved regression and remission of metastatic melanoma," Siegel said.

"I think this shows real promise for combined therapies."

The vaccine is now entering Phase 3 trials, as the researchers work to determine how and when it will receive FDA approval.

The trial participants have not reported any side effects other than what they experienced with immunotherapy, Pecora said.

"It could be approved as soon as the next year or two," he predicted.

The hope is that this breakthrough will also be applied to other forms of cancer beyond melanoma.

The deadliest form of skin cancer, melanoma is fast-growing and can spread to any organ. 

In 2023, nearly 187,000 Americans were expected to be diagnosed with melanoma, according to the Melanoma Research Foundation. 

More than 97,600 of those will be diagnosed with invasive melanoma, and 7,990 Americans are expected to die from the disease in 2023.

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Google DeepMind's new AI tool can predict genetic diseases

Genetic mutations are changes to our DNA sequence. This happens when cells make copies of themselves during cell division. Mutation is the ultimate source of human genetic variation and has evolutionary and disease genetics implications. A mutation affecting our genes might give birth to a genetic disorder. But just because you have a mutation doesn’t mean it will be a genetic disorder.

That is why researchers at DeepMind, the artificial intelligence arm of Google, have announced that they have trained a machine learning model called AlphaMissense to classify which DNA variations in our genomes are likely to cause disease.

Germline Genetic Testing After Cancer Diagnosis

Importance  Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention.

Objective  To describe the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019.

Design, Setting, and Participants  Observational study including patients aged 20 years or older who had been diagnosed with any type of cancer between January 1, 2013, and March 31, 2019, that was reported to statewide Surveillance, Epidemiology, and End Results registries in California and Georgia. These patients were linked to genetic testing results from 4 laboratories that performed most germline testing for California and Georgia.

Main Outcomes and Measures  The primary outcome was germline genetic testing within 2 years of a cancer diagnosis. Testing trends were analyzed with logistic regression modeling. The results of sequencing each gene, including variants associated with increased cancer risk (pathogenic results) and variants whose cancer risk association was unknown (uncertain results), were evaluated. The genes were categorized according to their primary cancer association, including breast or ovarian, gastrointestinal, and other, and whether practice guidelines recommended germline testing.

Results  Among 1 369 602 patients diagnosed with cancer between 2013 and 2019 in California and Georgia, 93 052 (6.8%) underwent germline testing through March 31, 2021. The proportion of patients tested varied by cancer type: male breast (50%), ovarian (38.6%), female breast (26%), multiple (7.5%), endometrial (6.4%), pancreatic (5.6%), colorectal (5.6%), prostate (1.1%), and lung (0.3%). In a logistic regression model, compared with the 31% (95% CI, 30%-31%) of non-Hispanic White patients with male breast cancer, female breast cancer, or ovarian cancer who underwent testing, patients of other races and ethnicities underwent testing less often: 22% (95% CI, 21%-22%) of Asian patients, 25% (95% CI, 24%-25%) of Black patients, and 23% (95% CI, 23%-23%) of Hispanic patients (P < .001 using the χ² test). Of all pathogenic results, 67.5% to 94.9% of variants were identified in genes for which practice guidelines recommend testing and 68.3% to 83.8% of variants were identified in genes associated with the diagnosed cancer type.

Conclusions and Relevance  Among patients diagnosed with cancer in California and Georgia between 2013 and 2019, only 6.8% underwent germline genetic testing. Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.

Genetic Testing for Cancer Susceptibility

Approximately 10% of patients diagnosed with cancer have a germline variant in a gene that increases susceptibility to cancer. The most common examples include germline pathogenic variants (mutations) in BRCA1 and BRCA2, which are associated with an increased risk of breast, ovarian, pancreatic, and prostate cancer, and germline pathogenic variants in MLH1, MSH2, MSH6, and PMS2 (Lynch syndrome), which are associated with increased risk of colorectal cancer, endometrial cancer, and other cancer types.

More than 100 genes that increase susceptibility to cancer (with varied levels of penetrance and association with cancer susceptibility) have been described. The prevalence of these germline genetic variants varies by cancer type, ranging from 4% to 6% in patients with lung cancer, esophageal cancer, and head and neck cancer to 30% for male patients with breast cancer.

In patients diagnosed with cancer, testing for gene variants associated with increased cancer susceptibility is important for at least 2 reasons. First, testing informs the most optimal treatment for a patient with cancer. Second, testing helps identify relatives who may have inherited genes that increase their cancer susceptibility. Identifying these genes could improve outcomes by increasing cancer screening and risk-reducing measures such as preventive surgery. With the advent of next-generation sequencing technologies, genetic testing for cancer risk has shifted from sequential, single-gene testing to multiple-panel genetic testing using blood or saliva. These tests require only 2 to 4 weeks for results and are performed by several large commercial laboratories.

For patients diagnosed with cancer for whom practice guidelines recommend genetic susceptibility testing, multiple-panel genetic testing is covered by most health insurance entities. Practice guidelines now recommend testing for inherited cancer susceptibility genes for all patients with ovarian, male breast, and pancreatic cancer. For other cancer types, including female breast, prostate, and colorectal, the criteria for testing have expanded, with more practice guidelines now advocating for genetic susceptibility testing for all patients or increasing subsets of patients.

Genetic testing for inherited cancer syndromes has become an integral component of cancer care because it directly affects management and therapy. In 2014, the first poly(adenosine diphosphate–ribose) polymerase inhibitor was approved by the US Food and Drug Administration for BRCA-associated ovarian cancer, and more recently approval has been expanded to include treatment for BRCA-associated breast cancer, pancreatic cancer, and prostate cancer. At the time of breast cancer diagnosis, identifying a high-risk variant in a susceptibility gene such as BRCA1 or BRCA2 may encourage some women to select risk-reducing bilateral mastectomy or risk-reducing salpingo-oophorectomy. Patients with variants in cancer-predisposing genes are also candidates for more frequent or intensive cancer screening. Examples include colonoscopy every 1 to 2 years in Lynch syndrome, breast magnetic resonance imaging in females with BRCA1 and BRCA2 genetic variants, and whole-body magnetic resonance imaging in patients with Li-Fraumeni syndrome.

In this issue of JAMA, Kurian et al report the rate of genetic testing in inherited cancer susceptibility in more than 1.36 million patients diagnosed with cancer between 2013 and 2019. Kurian et al linked genetic test results from the 4 major commercial laboratories to incident cancer diagnoses reported to the California and Georgia Surveillance, Epidemiology, and End Results tumor registries. Kurian et al report that only 6.8% of patients with cancer underwent genetic susceptibility testing within 2 years of the cancer diagnosis. The testing rates were higher for male breast cancer and ovarian cancer, for which practice guidelines recommend universal testing for all diagnosed patients.

However, even for ovarian cancer, for which universal genetic testing has been recommended since 2010, the rate of genetic testing was only 38.6%. The highest rate of testing was 50% for men with breast cancer. For pancreatic cancer, the rate of genetic testing increased from 1.2% in 2013 to 18.6% in 2019, the year that universal testing for this tumor type was first recommended. Previously, testing was recommended only for patients meeting specific family history criteria, or with specific ancestries known to be associated with higher rates of genetic susceptibility. Because tumor registries do not record family histories, the number of people with cancer who met practice guideline criteria but who did not undergo genetic testing could not be evaluated. Some cancer patients may have obtained genetic testing through direct-to-consumer laboratories and would not have been counted among the patients with genetic testing in the analyses. Nonetheless, the low rates of cancer genetic testing reported by Kurian et al raise concern and should stimulate interventions to increase rates of genetic testing with the goal of reducing cancer burden.

A strength of the study by Kurian et al was measurement of testing at the population level using the California and Georgia statewide tumor registries. When the results were analyzed by race and ethnicity, 22% of Asian patients, 25% of Black patients, and 23% of Hispanic patients underwent genetic testing for male breast cancer, female breast cancer, or ovarian cancer compared with 31% of non-Hispanic White patients with these cancer types. Uncertain genetic test results (defined as a result that could not clearly indicate whether the variant was related to cancer), which can result in suboptimal clinical management and increased patient anxiety, were significantly more common in non-White patients. The combination of low genetic testing and more frequent identification of variants of uncertain clinical significance can perpetuate existing disparities.

The analyses by Kurian et al did not identify reasons for underuse of genetic testing. Potential explanations can be divided into at least 2 categories. First, there are health care system–related barriers (eg, lack of timely access to genetic counseling). Many health systems do not employ genetic counselors and there is a US shortage of these professionals. Second, there are patient factors, such as preoccupation with coping with cancer treatment, lack of awareness or interest, mistrust, or fear of the potential consequences of testing, which may contribute to low genetic testing rates. These health care system–related and patient-related factors are even greater in vulnerable populations, including racial and ethnic minority groups, residents of rural regions, and patients with low health literacy.

New care delivery models are needed to improve the rates of cancer susceptibility genetic testing. In the US, this is a priority of the National Cancer Institute’s Moonshot program. First, clinicians must be familiar with practice guidelines indicating when cancer susceptibility genetic testing is indicated. Ensuring consistency of practice guidelines sponsored by professional societies may facilitate this goal. Clinical decision support tools integrated within electronic records could systematically identify patients eligible for cancer genetic testing. Automated clinician notifications of eligibility and testing criteria integrated in pathology reports for cancer types with inherited susceptibility genes may increase genetic test ordering by clinicians.

Second, clinicians should recommend testing to their patients and provide them with the information necessary to make informed decisions about whether to undergo testing. Traditionally, cancer susceptibility genetic testing has required a visit with a genetic counselor before testing to obtain informed consent and ensure clear understanding of the consequences for the patient and their relatives if a cancer susceptibility variant is identified. However, this model of delivery for genetic counseling is neither efficient nor sustainable. Patients must have access to clear, reliable, and convenient sources of information to inform their decision to undergo testing and understand and manage test results. An individual visit with a genetic counselor should not be a prerequisite to testing.

An alternative to the traditional genetic counseling pretesting visit is a point-of-care testing approach, also known as mainstreaming. In this model, nongenetic health care clinicians (usually surgeons or oncologists) provide a brief educational session, obtain consent, and order genetic testing during a single medical center visit. Several studies of patients with breast, ovarian, pancreatic, and prostate cancer demonstrated excellent feasibility and acceptability for this approach. The results (especially for positive or uncertain test results) can also be delivered by a genetic counselor or other clinicians trained in cancer genetics.

To ensure patients receive necessary information, pretest (and potentially posttest) genetic counseling can be delivered using digital methods such as web-accessible videos. Genetic counselors can explain inherited cancer susceptibility in the patient’s preferred language. Videos can be supplemented by telehealth visits with genetic counselors for patients requiring individually tailored information. Experience suggests that many patients agree to germline testing after viewing a short video. Comprehension could be evaluated with brief surveys. This approach can make genetic counseling and genetic testing widely available at minimal expense.

In the future, artificial intelligence–supported chatbots may respond to patients’ questions about genetic testing. Many genetic counseling interactions currently are performed using telehealth and this trend does not appear to be waning as the COVID-19 pandemic subsides. Telehealth is convenient, efficient, and may help increase genetic testing rates. Permanent elimination of regulatory barriers for telemedicine genetic counseling across the US would help sustain access to genetic counseling.

Identification of gene variants associated with increased cancer susceptibility can improve outcomes for both cancer patients and family members. As data from Kurian et al highlight, genetic cancer susceptibility testing is underused, and this is a missed opportunity to decrease the population-level burden of cancer. With greater emphasis on overcoming both health system and patient-level barriers to genetic cancer susceptibility testing for patients with cancer, treatment outcomes will improve and cancer diagnoses and related deaths in family members will be prevented.

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Scientists Use Stem Cell Therapy for Spinal Cord Injuries

The team injected patients with their own bone marrow stem cells, noticing remarkable effects.

Injecting bone marrow stem cells in patients with spinal cord injuries significantly improved their motor functions.

Scientists from Yale University and Sapporo Medical University in Japan reported their findings in the Journal of Clinical Neurology and Neurosurgery on February 18.  

How stem cell therapy helped

The stem cells were prepared from the patients' own bone marrow, and injected intravenously back into the patients, with no side effects from the therapy noted by the researchers. This was not a blind trial, and no placebos were administered.

Over half of the patients reported improved motor functions within weeks of the injections. Key motor functions include walking and using hands. 

The patients in question had experienced non-penetrating spinal cord injuries a few weeks prior to the study, which were caused by minor falls or trauma. These injuries left them without motor function or coordination, sensory loss, and bowel and bladder dysfunction.

This type of therapy isn't only ideal for spinal cord injuries, but also for brain injuries, such as strokes. As Jeffery Kocsis of Yale University said "Similar results with stem cells in patients with stroke increases our confidence that this approach may be clinically useful."

Adding to this comment, Stephen Waxman from Yale University said "The idea that we may be able to restore function after injury to the brain and spinal cord using the patient’s own stem cells has intrigued us for years. Now we have a hint, in humans, that it may be possible."

It's still the early days of this stem cell therapy for spinal cord injuries, and the authors of the study stress that further studies need to be carried out before confirming the results of their initial, unblinded trial — something that could take years. 

It's still exciting news, as stem cell therapy has been researched for years as a potential remedy for such injuries. Just last year, the Mayo Clinic carried out trials on stem cell therapy for spinal cord injuries. While in Japan, a few eyebrows were raised in 2019 as the nation accepted stem cell therapy to treat spinal cord injuries, perhaps a little prematurely some scientists suggested in the journal Nature.

People of European descent evolved resistance to TB over 10,000 years

Ancient DNA reveals that people of European ancestry have lost a gene variant linked to tuberculosis (TB) susceptibility over centuries.

TB is one of the world’s deadliest diseases and is caused by the Mycobacterium tuberculosis bacterium. People whose DNA contains two copies of a genetic variant called P1104A are more likely to develop symptoms of TB after being infected with the bacterium.

To trace the frequency of P1104A over time, Gaspard Kerner at the Pasteur Institute in France and his team analysed modern human DNA from around the world and compared it with more than 1000 samples of ancient DNA from Europeans from the past 10,000 years.

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Bone-boosting lettuce could help Mars astronauts stay healthy

Eating lettuce containing a hormone that boosts bone formation might help astronauts from losing bone mass in space – and might even help treat osteoporosis on Earth too

Lettuce genetically-modified to produce a bone-forming hormone could be eaten by astronauts to keep them healthier on long missions.

Bone loss, or osteoporosis, is a common problem when people spend a long time in the microgravity of space. Astronauts on the International Space Station need to exercise for at least 2 hours each day and take a bone-preserving drug to limit such effects. But on longer missions, like a human spaceflight to Mars, stronger bone-forming drugs that require injections could be needed, which would take up valuable cargo space.

Kevin Yates at the University of California, Davis, and his colleagues used a soil bacterium to transfer a gene that produces a variant of the human version of parathyroid hormone (PTH) into lettuce. The same variant is commonly used as a drug to stimulate bone formation. The researchers screened a number of modified lettuce plants and observed that the most productive specimens produced 10 to 12 milligrams of PTH per kilogram. An astronaut could get all the PTH they need by eating 380 grams of the lettuce per day.

Yates and his team think that they will be able to improve on the initial results, which they presented today at the American Chemical Society Spring 2022 conference in San Diego, California. They hope that extracting medicine from produce grown from seeds in space could become the norm for future missions.

“This is a new way of thinking and solving problems for space exploration,” says Yates. “Typically in the past it’s been abiotic solutions – just package stuff up and fly it with you or have consumables that you use up and have more sent to you from Earth.”

Yates also speculates the lettuce could be used to treat osteoporosis on Earth too, where the condition is seen in millions of people.

“In principle, it could be [useful] in terms of treating osteoporosis,” says David Reid at the University of Aberdeen, UK. But the use of a hormone that builds up tissue like PTH might be unnecessary, he adds. “You can usually, unless it’s very profound, get away with other drugs which prevent bone breakdown, rather than a bone-forming drug.”

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Genetically engineered bacteria could heal us from inside our cells

Genetically engineered bacteria could heal us from inside our cells

Billions of years ago, bacteria began living inside other cells and carrying out essential functions. Genetic engineering could create new types of these ‘endosymbionts’

Bacteria have been genetically engineered to enter and live inside mouse immune cells, where they released proteins that altered the behaviour of those cells. The work is a first step towards creating “artificial endosymbionts” that could live inside some human body cells and do everything from guiding the regeneration of damaged tissues to treating cancer.

“That’s the vision in the long run,” says Christopher Contag at Michigan State University.

Several other groups are also developing artificial endosymbionts, which they say could allow us to make crops and farm animals more productive, and could treat age-related conditions.

The idea of creating artificial endosymbionts used to be regarded as fanciful, says Bogumil Karas at the University of Western Ontario in Canada, but due to the huge advances in our ability to engineer organisms in recent years, it is starting to be seen as feasible.

“This is going to be one of the biggest things in the very near future,” he says. “I’ve seen huge interest in the last five years or so.”

Most organisms depend on the microbes living on or in them – the microbiome – but sometimes the relationship is even more intimate. Some bacteria live inside the cells of plants or animals in a mutually beneficial relationship called endosymbiosis.

Endosymbionts can give organisms abilities vital for their survival. The energy-producing structures in all animal and plant cells evolved from endosymbiotic bacteria, as did the photosynthetic structures in all plant cells.

To create a new endosymbiont from scratch, Contag’s team started with a bacterium called Bacillus subtilis, found in our guts among other places. “It’s a normal microbiome bacterium,” says team member Cody Madsen, also at Michigan State University.

The researchers engineered it to produce mammalian proteins that alter the activity of genes and thus control what mammalian cells do.

To get the bacteria inside mouse cells, Contag and Madsen and their colleagues relied on the fact that some animal cells can engulf bacteria via a process called phagocytosis. Normally, engulfed bacteria remain trapped in membrane-bound sacs where they are digested. But the engineered B. subtilis strain secretes a protein that enables it to break out of these sacs.