Saturday, October 17, 2026

What makes us human? A first atlas of functional DNA changes offers new clues

Researchers identify evolutionary DNA changes that shaped the human skeleton and may help explain degenerative skeletal diseases, such as osteoarthritis

McGill University

A new genetic atlas is helping scientists trace the DNA changes that transformed a shared primate ancestor into modern humans.

For the first time, researchers can systematically test which genetic differences between humans and chimpanzees affect gene activity.

The study, published in Nature, grew out of a collaboration among researchers at McGill University, Kyoto University and the Weizmann Institute of Science.

“Human and chimpanzee genomes are more than 98 per cent identical, but until now we had no way to know which genetic differences had meaningful biological effects,” said first author Yizhi Yan, a PhD student in the Kyoto-McGill International Collaborative Program in Genomic Medicine.

Understanding those changes could reveal not only how humans evolved, but also why some diseases arise in the first place.

Insights into skeletal development and disease

As a first test of the atlas, researchers examined the effect of hundreds of thousands of DNA differences on gene expression in skeletal cells.

“We were surprised to find that thousands of genetic changes appeared to have meaningful effects. That opens up a wealth of new avenues for future research,” said co-author Guillaume Bourque, Professor in McGill's Department of Human Genetics and Distinguished Visiting Professor at Kyoto University.

Researchers then narrowed the field to genes linked to cartilage development.

Their analysis suggests humans evolved to have lower levels of molecules that help cartilage retain water and withstand pressure than do other great apes.

While this shift may have helped shape distinctive features of the human skeleton, it may also help explain why humans are particularly vulnerable to some skeletal disorders.

Evolutionary trade-off

The finding points to an evolutionary trade-off, the authors note.

“The genetic changes that gave humans new traits may also have created new vulnerabilities. Understanding those trade-offs can help us understand why some diseases exist today,” said Bourque.

In the case of the skeleton, that could mean a better understanding of conditions affecting cartilage and bone, including osteoarthritis and osteoporosis, he added.

The team is now looking to apply the same approach to cells from other parts of the body, notably the brain, where the atlas could shed new light on the evolution of human cognition.

About the study

“The gene-regulatory evolution of the human skeleton” by Yizhi Yan, Guillaume Bourque, Fumitaka Inoue and David Gokhman et al., was published in Nature. Funding for the study was provided by research agencies and foundations in Europe, Israel, Japan and Canada, including the European Research Council, Japan's Ministry of Education, Culture, Sports, Science and Technology (MEXT), the Israel Science Foundation and the Leakey Foundation.

Journal

Nature

DOI

10.1038/s41586-026-11053-x

Method of Research

Computational simulation/modeling

Article Title

The gene-regulatory evolution of the human skeleton

Large-scale study advances detection of DNA mutations across the human genome

Mayo Clinic

ROCHESTER, Minn. — Researchers in a Mayo Clinic-led study have shown how to detect a broad range of DNA mutations in noncancerous human tissues and across the genome. The analysis, drawing on more than 90 trillion DNA letters of sequencing data, could help scientists study when these changes arise — from early development through aging — and how they contribute to cancer and other diseases.

Published in Cell, the study is the flagship paper in a package of roughly a dozen publications from the National Institutes of Health (NIH) Common Fund's Somatic Mosaicism across Human Tissues, or SMaHT, Network. The network includes more than 300 members from more than two dozen U.S. universities and hospitals. Researchers evaluated approaches for detecting somatic mutations ranging from single-letter DNA changes to large deletions, insertions and rearrangements.

Alexej Abyzov, Ph.D., a Mayo Clinic professor of biomedical informatics who leads the Somatic Mutations in Development and Aging Laboratory, is the corresponding author of the Cell study.

"We often think of the human genome as a single, fixed sequence, but every person is a mosaic of cells that acquire genetic changes over time," Dr. Abyzov says. "As we have increasingly recognized in recent years, these mutations are relevant not only to cancer but also to a broad range of age-related diseases."

Reading the cellular mosaic

Unlike inherited genetic changes, somatic mutations arise after conception and accumulate over a lifetime. As cells divide, they can pass those changes to new cells, creating genetic differences within the same person, known as somatic mosaicism. Some somatic mutations can alter how cells behave and contribute to cancer, aging, and neurodevelopmental, cardiovascular and autoimmune diseases.

These mutations can be difficult to detect when they are rare or occur in complex, repetitive regions of the genome. The SMaHT Network compared short- and long-read whole-genome sequencing, duplex sequencing, single-cell sequencing, and computational approaches.

One of the clearest findings came from long-read sequencing, which reads longer stretches of DNA at a time. Much like reading a full sentence instead of a few scattered words, the added context made large genetic changes easier to find. Long-read sequencing detected about twice as many large DNA changes as short-read sequencing. It also found insertions that shorter reads often missed.

Researchers improved detection in other hard-to-read parts of the genome too. In one benchmark, a more complete genome reference raised precision from 79% to 89%. Single-cell sequencing of 102 lung and colon cells revealed differences from cell to cell and helped trace their history back to early development.

Companion study maps rare mutations across tissues

Dr. Abyzov also co-led a companion SMaHT paper published in The American Journal of Human Genetics. Deep whole-genome sequencing accurately detected rare, single-letter DNA changes present at levels below 1% in a tissue sample.

Analyzing DNA from different organs also helped detect mutations that arose early in development and spread to multiple tissues. Combining lung and colon data uncovered 13 additional shared mutations, improving detection by 145% for these very rare mutations compared with analyzing either tissue alone.

SMaHT aims to catalog somatic mutations across 10 to 15 tissue types from 150 donors while improving the tools used to detect them. NIH is planning a second stage focused on understanding how these mutations influence biological processes and disease.

Dr. Abyzov says the research could eventually help identify people at higher cancer risk and track precancerous changes in tissues before developing symptoms.

The studies were supported by the NIH Common Fund through the Office of Strategic Coordination in the NIH Office of the Director. The companion study received additional NIH support for work conducted at Mayo Clinic. For complete author lists, disclosures and funding information, review the Cell study and the companion The American Journal of Human Genetics study.

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

Journal

Cell

DOI

10.1016/j.cell.2026.09.037

Article Title

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network

Article Publication Date

15-Oct-2026

Whales take different routes but still reach dinner on time

Southern right whales were tracked from New Zealand’s subantarctic Auckland Islands/Maungahuka to feeding grounds south of Australia

University of Auckland

image:
Southern right whale, mother and calf
view more
Credit: University of Auckland

Some travellers take the scenic route. Others put their foot down and head straight for the destination. New research suggests southern right whales do much the same when crossing the Southern Ocean.

This video tells the story.

Scientists from the University of Auckland and international partners tracked 21 southern right whales or tohorā from their winter home in New Zealand’s subantarctic Auckland Islands/Maungahuka to feeding grounds south of Australia.

About half the whales took a direct route westward. The others headed much farther south before turning north again, creating a giant L-shaped journey across the ocean.

Despite these different travel styles, both groups reached their feeding grounds at roughly the same time. The whales taking the longer route left about a month earlier and travelled more slowly, while the late starters took the shorter path and moved a little faster.

The mean was 64 days for the long trip, 42 days for the short one.

Lead author Leena Riekkola says the findings suggest whales may be balancing different priorities.
much as people do on a road trip. Some may be conserving energy, while others appear to be making up for lost time.

The whales also show flexibility in their behaviour. One year, a female might delay migration to allow her calf to grow bigger, taking the shorter route, but the next year, when travelling alone, take the longer route.

The study also hints that whales may navigate using a mix of natural signposts. Their movements lined up with major ocean currents, underwater features and even subtle variations in Earth's magnetic field. Rather than relying on a single cue, the giant mammals seem to use several clues to find their way across thousands of kilometres of open ocean.

The researchers say flexibility could be good news for this recovering population as the climate changes. “A population that can adapt its behaviour has a better chance of coping with changing seas,” says Associate Professor Emma Carroll.

The scientists acknowledged the Kaitiaki Roopū o Murihiku and funders and supporters including Royal Society Te Apārangi, Live Ocean Foundation, the University of Auckland, the International Whaling Commission - Southern Ocean Research Partnership, and the Antarctic and Southern Ocean Coalition.

The study was published in the journal Proceedings B.

Journal

Proceedings of the Royal Society B Biological Sciences

DOI

10.1098/rspb.2026.0029

Method of Research

Observational study

Subject of Research

Animals

Article Title

Multiple strategies and cues define baleen whale migration

Article Publication Date

14-Oct-2026

Southern right whale

Credit

Southern Right Whale Auckland Islands Research-Team

Southern Right Whale

Credit

University of Auckland

One whale, two journeys

Credit

Tohorā Voyages

Who gets Alzheimer’s drugs? Race, vulnerability and health status shape access

Study finds significant differences in who receives anti-amyloid therapy, but not in adherence once treatment begins

Michigan Medicine - University of Michigan

The first disease-modifying drugs for Alzheimer's disease offer patients the ability to slow cognitive decline by targeting amyloid plaques in the brain.

But a new study suggests that not all patients have the same opportunity to receive these treatments.

Research led by Michigan Medicine found that Black adults had 86% lower odds, and Hispanic adults had 79% lower odds of receiving anti-amyloid medication compared to non-Hispanic white adults.

The findings, published in Neurology, the medical journal of the American Academy of Neurology, highlight potential disparities in access to a new class of Alzheimer's treatments as use of these therapies increases.

“The association we found between race/ethnicity and anti-amyloid medication use raises important questions about how patients are identified, evaluated and ultimately selected for treatment,” said Melissa Elafros, M.D., Ph.D., co-first author and Andrea and Lawrence A. Wolfe Research Professor at University of Michigan Medical School.

“It’s critical that we understand and address the disparities we are seeing today so that as many patients as possible receive benefits.”

From a database of over 1 million adults with mild cognitive impairment or dementia, the research team identified 2,427 patients who received an anti-amyloid medication and compared them to a similar group of untreated patients.

They found that race, ethnicity and health comorbidities were strongly associated with whether patients received treatment.

Participants who faced greater social and economic disadvantages, as measured by factors including income, education and access to housing and neighborhood resources, were nearly half as likely to receive the latest treatments.

Once treatment began, patients were equally likely to take anti-amyloid medications as prescribed, regardless of race or ethnicity.

“Although race, ethnicity and overall vulnerability are associated with whether patients receive an anti-amyloid medication, we found no differences in initial adherence among those who start treatment,” said Brian C. Callaghan, M.D., M.S., senior author and Eva L. Feldman, MD, PhD. Professor at U-M Medical School.

“This suggests that interventions should focus on helping eligible patients start therapy, rather than on adherence after treatment begins.”

Additional authors: Lavanya Muthukumar, M.S., and Samuel Terman, M.D., both of University of Michigan. See additional authors online.

Funding/disclosures: This study is funded by a research contract with the American Academy of Neurology.

Callaghan consults for DynaMed, receives research support from the American Academy of Neurology and performs medical legal consultations including consultations for the Vaccine Injury Compensation Program.

Paper Cited: “Predictors of Antiamyloid Medication Utilization and Adherence Among People With Alzheimer Disease and Mild Cognitive Impairment,” Neurology. DOI:10.1212/WNL.0000000000218594

Journal

Neurology

DOI

10.1212/WNL.0000000000218594

Method of Research

Observational study

Subject of Research

People

Article Title

Predictors of Antiamyloid Medication Utilization and Adherence Among People With Alzheimer Disease and Mild Cognitive Impairment

Article Publication Date

15-Oct-2026

COI Statement

This study is funded by a research contract with the American Academy of Neurology. Callaghan consults for DynaMed, receives research support from the American Academy of Neurology and performs medical legal consultations including consultations for the Vaccine Injury Compensation Program.

MSU research: Belief in change matters more than political anger

Michigan State University

Why this matters:

With increased political polarization, it is important to understand the role of political anger.
New research from Michigan State University finds that people’s belief in their ability to make a difference helps shape whether anger is associated with taking political action and voting.
The findings suggest that efforts to encourage civic participation may need to do more than tap into voters’ anger. Rather, researchers, policymakers and professionals must understand that people must hold the belief they can drive change.

EAST LANSING, Mich. – With the 2026 midterm elections around the corner, voters may be feeling everything from excitement to fear. But how might anger motivate political activism and, ultimately, influence who turns out to vote?

New research from Michigan State University’s Department of Communication examined nonviolent mobilizing outcomes of anger, including its association to political action and voting intentions. The study, published in the journal Public Library of Science, or PLOS ONE, found that anger does not automatically translate to voting; instead, it depends on efficacy, or the belief people can influence a political outcome.

“Anger does not always equate to aggression or violence. When people are empowered to change angering situations, they are more likely to engage in prosocial behaviors,” said Monique Turner, the study’s lead investigator and a professor and chair of the Department of Communication at MSU’s College of Communication Arts and Sciences.

Methodology

While existing research has examined the role of fear and politics, less information is known about the role of anger and politics.

Turner developed the Anger Activism Model, or AAM, to help explain how anger does not act alone. Rather, it interacts with perceived efficacy. In this study, they examined a specific type of internal political efficacy: The belief in one’s own ability to participate in politics effectively.

They surveyed almost 2,000 U.S. adults five weeks before the 2024 presidential election to examine how anger and different forms of political efficacy relate to participants’ commitment to nonviolent political activism and casting their vote.

Findings
Political anger can make someone politically active, but the researchers found participation depends on whether people believe they can do something about what is making them angry — and on whether the goal is activism or voting.

Among people doubtful they could change what angers them, stronger anger increased willingness to be politically active, such as volunteering for a campaign. However, despite higher anger being a catalyst for action, people feeling extreme anger had lower interest in voting.

Implications

The findings suggest that anger alone does not exclusively mobilize; rather, it must exist with a credible pathway to action being offered.

Communication professionals and political campaigns must offer concrete ways for people to act and may also need added efforts to get them to vote, as those who were angriest were least likely to vote. In other words, relying on extreme anger to encourage voting could backfire among people who already feel powerless.

While anger can be an important vehicle, this research adds values for practitioners when it comes to understanding the role of anger in politics today.

“It is important to understand anger is a mobilizer, but our study calls attention to the fact that the kind of action people take depends on whether they feel change is possible,” Turner said.

Turner was joined by the following researchers in the department: Ellen Reinhart, postdoctoral scholar; Dusitn Carnahan, associate professor; and David Markowitz, Red Cedar Distinguished Professor.

By Victoria Brown and Jack Harrison

Read on MSUToday.

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Michigan State University has been advancing the common good with uncommon will for more than 170 years. A top 100 global university and leading U.S. public research institution, MSU brings people together to put knowledge into action, improve lives and create meaningful progress in Michigan and around the world. As the nation’s premier land-grant university, MSU expands access to a life-changing education, advances research that addresses real-world needs and prepares students to make a difference in their careers and communities. With more than 400 programs of study, MSU educates more undergraduates than any other university in the state and is a major source of talent, innovation and opportunity for Michigan.

Journal

PLOS One

DOI

10.1371/journal.pone.0358939

Article Title

From outrage to action: Efficacy moderates the relationship between anger and prosocial political outcomes

Article Publication Date

14-Oct-2026