Researchers identify gene associated with deadly heart disease in golden retrievers

North Carolina State University

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Researchers have discovered the first genetic mutation associated with hypertrophic cardiomyopathy (HCM) and sudden death in golden retrievers. The work could lead to increased early detection and disease prevention for the breed while further shaping our understanding of the disease in humans.

HCM is a cardiac disease that most commonly affects humans and cats but was previously considered rare in dogs. In HCM, the left ventricular muscle thickens, affecting the heart’s ability to deliver oxygenated blood to the body. The disease can lead to abnormal blood clotting, irregular heart rhythms and heart failure, although in up to 50% of cases individuals with the disorder show no clinical signs. HCM affects approximately one in 500 humans and one in seven cats, representing one of the top causes of sudden death in both populations.

In the study, the research team looked at the whole genome sequences for three related golden retriever puppies less than two years of age who all suffered sudden cardiac deaths. Genetic sequences were compared to other dogs within the puppies’ family tree, sequences from over 2,500 unrelated dogs of various breeds, and sequences from wolves and coyotes.

Bioinformatic analysis and sequential filter steps led the team to identify a single genetic variant located in a gene called Cardiac Troponin-I, or TNNI3.

“In humans, TNNI3 mutations are associated with juvenile HCM and sudden death,” says Victor Rivas, DVM student and Ph.D. graduate at North Carolina State University. “This is the first genetic variant to explain HCM outside of humans and cats. And while it is specific to golden retrievers, it’s the first variant to be described in any dog breed.” Rivas is first author of the study.

The researchers also found that the mutation is autosomal recessive, which means that two copies of the gene – one from each parent – must be present for the disease to occur. In the case of the affected puppies, both parents were cardiovascularly normal, but each carried a copy of the mutation.

The researchers hope that this information can be used to prevent the spread of the TNNI3 variant – and thereby HCM – through the breed. Golden retriever owners who may be interested in breeding can have genotype testing performed for this mutation to determine whether their animal is a carrier.

“The positive news is that by collaborating with the golden retriever community we may be able to ensure that HCM remains a very rare disease in dogs,” Rivas says. “Additionally, the case similarities in humans and golden retrievers with these TNNI3 variants is remarkable and could lead to translational health studies that can shape our understanding of the disease mechanisms and ultimately benefit humans with similar mutations.”

The study appears in Circulation: Genomic and Precision Medicine. Other NC State contributors were Michael Vandewege, Ronald Li, Sandra Losa, Meghan Leber, Panchan Sitthicharoenchai, and Joshua Stern. Dayna Goldsmith, Jennifer Davies and Carolyn Legge of the University of Calgary; Kim Hawkes of Pulse Veterinary Cardiology and Sarah Revell of Highview Animal Clinic also contributed to the work.

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Note to editors: An abstract follows.

“Novel Cardiac Troponin-I Missense Variant (c.593C>T) Is Associated With Familial Hypertrophic Cardiomyopathy in Golden Retrievers”

DOI: 10.1161/CIRCGEN.125.005096

Authors: Victor Rivas, Michael Vandewege, Ronald Li, Sandra Losa, Meghan Leber, Panchan Sitthicharoenchai, Joshua Stern, North Carolina State University; Dayna Goldsmith, Jennifer Davies, Carolyn Legge, University of Calgary; Kim Hawkes, Pulse Veterinary Cardiology; Sarah Revell, Highview Animal Clinic
Published: Aug. 22, 2025 in Circulation: Genomic and Precision Medicine

Abstract:
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a naturally occurring cardiac disorder afflicting humans, cats, rhesus macaques, pigs, and rarely dogs. The disease is characterized by maladaptive left ventricular wall thickening. Over 1500 sarcomere-coding mutations explain HCM in humans, whereas only 3 have been reported in cat breeds. To date, no mutations have been described in dogs. HCM in a nuclear family of Golden Retrievers was identified following the sudden cardiac death of 3 related puppies <2 years of age from 2 dam-offspring repeat matings. METHODS: Whole-genome sequencing on the 3 affected puppies, along with nuclear family members (ie, sire, dam, 4 unaffected littermates, 4 unaffected half-siblings), and 1 distantly related, geriatric, cardiovascularly normal Golden Retriever was performed (n=14). Candidate variant genotyping was performed in an unphenotyped cohort of dogs (n=2771) and an expanded population of phenotyped, unrelated Golden Retrievers (n=45). Left ventricular tissue immunofluorescence staining was subsequently performed to investigate incorporation and expression of mutant protein within the cardiac sarcomere of HCM-affected cases. RESULTS: Gross and histopathologic evaluations of the HCM-affected puppies revealed hallmark features of the disease, including cardiomyocyte hypertrophy, interstitial fibrosis, and left-sided congestive heart failure. Segregation analysis of called variants, performed under assumptions of an autosomal-recessive mode of inheritance, identified a single segregating c.593C>T missense variant in TNNI3 (Cardiac Troponin-I). This variant was not observed in the unphenotyped (n=2771) nor in the phenotyped, unrelated cohort of dogs (n=45). Immunofluorescence staining of left ventricular tissues did not reveal obvious aberrant protein localization and expression at the sarcomeric level, suggesting the molecular pathogenesis of the TNNI3 variant is not related to abnormal protein incorporation within the sarcomere.
CONCLUSIONS: This variant represents the first-ever reported HCM-associated variant in any canine species, and its identification holds promise for establishing translational models, genetic screening, and early disease prevention within the breed.

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Journal

Circulation Genomic and Precision Medicine

DOI

10.1161/CIRCGEN.125.005096 

Method of Research

Data/statistical analysis

Subject of Research

Animal tissue samples

Article Title

Novel Cardiac Troponin-I Missense Variant (c.593C>T) Is Associated With Familial Hypertrophic Cardiomyopathy in Golden Retrievers

A diagnostic system developed for identifying ADHD-suspected dogs

Hungarian ethologists developed the first diagnostic system to detect ADHD-like symptoms in family dogs, based on human ADHD principles.

Eötvös Loránd University

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In a groundbreaking study with international significance, Hungarian ethologists have developed the first diagnostic system capable of screening family dogs with suspected ADHD, following the diagnostic principles of human ADHD (Attention-Deficit/Hyperactivity Disorder). The research, conducted at the Department of Ethology, Eötvös Loránd University (ELTE), has been published in the prestigious journal Scientific Reports.

The study aimed to create an objective and standardised tool to identify dogs showing behaviours associated with ADHD, such as inattention, hyperactivity, impulsivity, and functional impairment. The new system may support both scientific research and veterinary practice, since there is currently no universally accepted method for screening dogs with ADHD-like symptoms – despite increasing reports from owners about such behavioural problems.

The study involved 1872 family dogs and their owners. Researchers used the previously validated “Dog ADHD and Functionality Rating Scale” (DAFRS), which evaluates dog behaviour from two perspectives. The first part measures the presence of symptoms (inattention, hyperactivity, impulsivity), while the second assesses the extent to which these behaviours interfere with the dog’s daily functioning – for example, everyday interactions with the owner or learning.

“In human diagnostics, the presence of symptoms such as inattention, hyperactivity, or impulsivity alone does not necessarily indicate ADHD. A key element is functional impairment – that is, whether these symptoms have a negative impact on everyday life,” explained Dr. Nóra Bunford, clinical psychologist and human ADHD researcher.

The researchers first examined how many dogs showed behavioural problems associated with ADHD symptoms, which also negatively affected everyday life. A dog was considered functionally impaired if owners reported at least four out of seven items with moderate or greater problem severity in any of the ADHD-related domains (inattention, hyperactivity, impulsivity). This criterion applied to 116 dogs (6.2% of the sample).

Subsequently, the team combined the functional impairment data with the ADHD symptom total scores. They established a final criterion: dogs were classified as at-risk if they scored at least 26 points on the ADHD symptom scale and showed noticeable problems in at least one functional area. These two criteria together applied to 79 dogs (4.2% of the sample).

“This prevalence rate is surprisingly similar to what has been reported in adults with ADHD, while the prevalence is somewhat higher in children and adolescents. At the same time, it is important to note that certain factors may influence our results: for instance, some owners may fail to recognise symptoms or their severity, while others – those particularly interested in dog behaviour – may be more likely to participate and report more symptoms,” emphasised Dr. Márta Gácsi, lead researcher of the study.

“It is crucial to stress that the questionnaire alone is not sufficient for diagnosis. Our team has developed this diagnostic system step by step: the development of the questionnaire was the first step. In addition, we have designed a simple behaviour test that can objectively assess a dog’s inattention, excessive activity and impulsivity levels, complementing the - often subjective -  reports provided by owners,” added Dr. Barbara Csibra, first author of the study.

“A final diagnosis should be based on multiple sources: the owner-rated questionnaire, a short behavioural test, and expert consultation. When possible, we also include input from the dog’s trainer. This multi-faceted approach helps rule out other behavioural problems that may cause similar symptoms and reduces the chance of misdiagnosis,” noted Dr. Márta Gácsi.

“Our goal is to establish a reliable diagnostic system that enables more accurate identification of at-risk dogs. This way, we can improve the well-being of both dogs and their owners, facilitating harmonious daily interactions, as recognising such behavioural issues helps guide appropriate treatment or training decisions,” highlighted Dr. Barbara Csibra.

Recommended Literature
The full diagnostic study is available here: https://www.nature.com/articles/s41598-025-09988-8
More on the previously developed dog ADHD questionnaire: https://www.nature.com/articles/s41598-024-51924-9
Details on the dg ADHD behavior test can be found here: https://www.mdpi.com/2076-2615/14/13/1841

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Journal

Scientific Reports

DOI

10.1038/s41598-025-09988-8 

Article Title

Development of a human analogue ADHD diagnostic system for family dogs.

 

Transparent peer review pilot backed by authors and reviewers

Survey finds positive experiences of transparent peer review in first higher education journal to trial the model

Taylor & Francis Group

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A Taylor & Francis journal has revealed the results of a pilot to improve the transparency of peer review, a process which usually takes place behind the scenes. A survey two years into the trial has found that authors and reviewers are supportive of the transparent peer review model, believing it encourages better and fairer reviews as well as increased recognition of the vital service performed by reviewers.

The European Journal of Higher Education (EJHE) announced it was trialing transparent peer review (TPR) in April 2023, making it the first higher education journal to adopt this approach. Under the TPR model, the full text of anonymous peer review reports is published alongside each article accepted for publication. EJHE’s editors introduced the new approach to demonstrate the rigor of the journal’s peer review and to provide useful insight for readers about the editorial decision-making process.

After operating TPR for two years, the results have been published of a survey of EJHE authors and reviewers with experience of the process.

The survey finds high levels of author satisfaction with the quality, speed and decision making under the TPR model. 40% of authors said that EJHE’s peer review was better than other review processes they had experienced and just 2% reported that it was worse. Authors particularly valued the constructive and supportive feedback they received, which helped improve their papers.

It is sometimes feared that making reviewer reports public might prevent reviewers from being as honest as they would otherwise. However, 86% of reviewers said that the fact their feedback was being published did not change their approach to writing the review.

Respondents were also asked whether their experience of TPR would influence their decision to write or review for the journal in the future. 73% of authors reported that they were very likely to submit to EJHE again and only 8% said they were unlikely to do so. Although most reviewers said that TPR would not impact whether they reviewed again, as their decision is based on factors such as paper topic, there was a sizable proportion who said they would actively choose to review for EJHE because of their support for the model.

The full survey results report, which can be found on the Taylor & Francis website, also reveals whether reviewers would prefer to have their names included on the published review; includes qualitative insights from written responses; and compares author and reviewer perceptions of transparent review before and after experiencing it.

“We have enjoyed working with the editors of EJHE to create a transparent peer review solution that demonstrates the value of their reviewer community and we are delighted by the positive outcomes of this trial demonstrated by the survey results,” said Matthew Cannon, Associate Director of Open Science Programmes at Taylor & Francis. “We are already planning to build on this success with transparency initiatives for more journals.”

Cannon added: “Thank you to the EJHE editors, who have been great champions for transparent peer review, and to all the reviewers and authors who have embraced this innovative approach.”

Read the survey results: Implementation and impact of transparent peer review

 

Smitha Vishveshwara wins AIP’s 2025 Andrew Gemant Award for intertwining physics, theater, and fiction

UIUC physics professor, author and science theater-maker honored for combining the worlds of quantum physics and art.

American Institute of Physics

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2025 Gemant Award winner Smitha Vishveshwara, a physics professor at the University of Illinois Urbana-Champaign

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Credit: Vishveshwara

WASHINGTON, Sept. 4, 2025 – The American Institute of Physics is pleased to announce Smitha Vishveshwara as the winner of the 2025 Andrew Gemant Award.

Vishveshwara was chosen “for [her] years of creatively blending science teaching, theater, and art in ways that inspire and communicate the principles and elegance of physics through artistic expression,” the citation reads.

“The unique nature of this award lends itself to Dr. Vishveshwara’s strengths as an accomplished artist and physicist,” said Michael Moloney, CEO of AIP. “The way she uses storytelling to communicate complex physics topics makes her a paragon for science communication and interdisciplinarity.”

Born to two accomplished physicists, Vishveshwara was discussing the cosmos with her father at a young age. Those conversations inspired her recently published book, “Two Revolutions: Einstein’s Relativity and Quantum Physics: A Dialogue between Father and Daughter.” Written over 12 years, the book is a collection of letters between Vishveshwara and her father, discussing the different principles of quantum physics.

While physics had a profound impact on her upbringing, so did theater, as her grandfather was a playwright. Leaning on that upbringing, Vishveshwara and collaborators create live performances that blend science and the art of storytelling, weaving together complex physics concepts, narrative, music, theater, and dance.

This past March, at the Global Physics Summit of the American Physical Society, an AIP Member Society, Vishveshwara and her colleagues performed the play Quantum Voyages. The story was conceived and written by Vishveshwara and fellow theater-maker Latrelle Bright and follows two adventurers as they travel through different quantum realms guided by the spirit of wisdom.

The play was inspired by physics principles, the spirit of discovery and enchantment, and her son’s participation in a production of “The Nutcracker.”

A practicing quantum physicist, Vishveshwara also serves on the steering committee for the International Year of Quantum (2025). Her work stems from curiosity for the spectacular and often hidden world we live in, she said.

“The deep dives into the arts have inspired my scientific research all the more. Combined, the disciplines have offered us new flavors of creativity, imagination, playfulness, and awe in our collaborative exploration of nature and humanity,” she said.

After receiving her bachelor’s degree in physics from Cornell University, Vishveshwara obtained her Ph.D. in theoretical physics from the University of California, Santa Barbara. In 2002, she joined the University of Illinois Urbana-Champaign as a postdoc, and in 2005 she became a professor of condensed matter physics.

She saw teaching as a channel to combine her passions with her education and build with younger generations. At Urbana-Champaign, she developed “Where the Arts Meet Physics,” a project-based course in which students steep in a range of physics concepts and artistic media and create new work.

Vishveshwara also created the Collective for Art-Science, Creativity and Discovery, etc. (CASCaDe) with longtime artistic collaborators Latrelle Bright and Stephen Taylor. CASCaDe currently serves as a collective for scientists and artists from academia and beyond.

“I feel highly grateful to be able to embrace science-art-humanity as a way of life and for all the nurturing influences that made it possible,” Vishveshwara said. “I’m very honored to receive this award and moved by how it resonates with my outlook and our communal practice.”

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ABOUT THE AWARD

The Andrew Gemant Award recognizes the accomplishments of a person who has made significant contributions to the cultural, artistic, or humanistic dimension of physics and is given annually. The award is made possible by a bequest of Andrew Gemant to the American Institute of Physics.

The awardee receives a $5,000 cash award, designates an academic institution to receive a grant of $3,000 to further the public communication of physics, and is invited to deliver a public lecture in a suitable forum.

ABOUT AIP

As a 501(c)(3) non-profit, AIP is a federation that advances the success of our Member Societies and an institute that engages in research and analysis to empower positive change in the physical sciences. The mission of AIP (American Institute of Physics) is to advance, promote, and serve the physical sciences for the benefit of humanity.

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Biases hinder access to sexual assault evidence kits, study finds

Credibility judgments tied to race, intoxication and police involvement shown to influence health-care staff’s decisions, raising concerns about systemic inequities

McGill University

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Survivors of sexual assault in largely rural and remote Northwestern Ontario face systemic barriers when seeking forensic care, according to a new study led by McGill University researchers.

Sexual assault evidence kits (SAEKs) are used to collect DNA and document injuries following sexual assault. Outside of large urban centres where specialized facilities exist, SAEKs are usually administered in hospital emergency departments. The study found that in rural hospitals, healthcare providers’ decisions about whether to administer SAEKs were often shaped by stereotypes and credibility judgments, rather than consistent standards.

“From the interviews that we did, it seems that the person most likely to be viewed as credible and blameless, and to therefore receive a kit, is a white woman who was sober when assaulted, who doesn’t know the perpetrator, and who calls police for help,” said 

Kathleen Rice, Associate Professor and Research Director in McGill’s Department of Family Medicine and Canada Research Chair in the Medical Anthropology of Primary Care.

“Those who fall outside that ‘ideal victim’ stereotype risk facing disbelief or discriminatory care,” she said.

The study is among the first in Canada to examine how evidence kits are provided, filling a research gap. Most prior work has come from advocacy groups, she added.

Biases shaping care

Sydney Timmermans, a McGill graduate student supervised jointly by McGill and Lakehead University, surveyed hospitals to see which had kits available and staff trained to use them, then conducted in-depth interviews with emergency department staff.

From these interviews, three themes emerged:

• Substance use: Patients who were intoxicated were often dismissed as unreliable.

• Police involvement: If a patient arrived with police support, staff were more likely to see a claim as credible. Those in police custody were often thought to be exaggerating or faking.

• Race: Indigenous women were frequently subjected to racist assumptions and skepticism.

“These findings are troubling but not surprising,” said Rice. “What shocked us was how blatant some of these biases still are in 2025.”

Because emergency rooms are often the only place to obtain the kits in rural Canada, the findings point to challenges well beyond Ontario, she added.

Call to change how care is delivered

Reliable access to evidence kits is essential, as they can help document injuries, gather DNA samples, screen for infections and, if survivors choose, support legal proceedings, Rice noted.

The researchers call for clearer hospital guidelines and more training to address discrimination in the health system.

“Even those who held discriminatory views wanted more training,” said Rice. “That’s encouraging, because it shows a desire to do better.”

A potential follow up study in Quebec hospitals is now being explored.

About the study

’Not Without Judgment’: Sociocultural Barriers to Accessing Sexual Assault Evidence Kits in Rural and Remote Northwestern Ontario” published in the journal Violence Against Women was authored by Sydney Timmermans, Jodie Murphy-Oikonen and Kathleen Rice.

The study was funded by the Canadian Institutes of Health Research and the Social Sciences and Humanities Research Council of Canada.

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Journal

Violence Against Women

DOI

10.1177/10778012251362217 

Method of Research

Content analysis

Subject of Research

People

Article Title

"Not Without Judgment": Sociocultural Barriers to Accessing Sexual Assault Evidence Kits in Rural and Remote Northwestern Ontario

 

Study finds extreme weather changes who migrates, not just how many

If all other migration drivers remain constant, rising global temperatures may increase migration rates by about a quarter among older, less educated adults and decrease them by up to a third for the youngest and least educated groups.

Stanford University

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When severe heat waves, droughts, and other weather-related disasters strike, age and education shape who migrates and who stays put, according to a Sept. 3 study in Nature Communications. 

The study describes how extreme weather can push some groups to move across borders and trap many others in place. These results contrast with mass migration scenarios often invoked in public debates about climate change.

“Weather extremes can both incentivize people to move away and increase the number of people who don’t have the ability to migrate,” said study author Hélène Benveniste, an assistant professor of environmental social sciences at the Stanford Doerr School of Sustainability. “Our research shows that migration in response to weather, just like migration decisions in general, is highly dependent upon demographic characteristics.” 

The new analysis helps to resolve contradictory findings from past research. Some earlier studies, for example, have found mixed signals of whether men or women, or people with more or less education, are more likely to migrate following extreme heat. 

Together with co-authors Peter Huybers of Harvard University and Jonathan Proctor of the University of British Columbia, Benveniste found that these conflicting outcomes often reflect global patterns shaped by local climate and the demographics of potential migrants.

‘Double penalty’

The researchers analyzed more than 125,000 cases of cross-border migration from 168 origin countries to 23 destinations, and over 480,000 within-country moves in 71 nations. Each move was classified by the migrant’s age, education level, sex, origin location, and destination, producing 32 different demographic groups. The team then mapped this dataset to daily records of temperature and soil moisture, which are closely tied to food security, livelihoods, and well-being. 

By accounting for demographic differences, the new model predicts migration patterns up to 12 times better for cross-border flows and five times better for movement within countries than previous models that assumed everyone responds to weather shocks the same way. Still, weather itself accounts for no more than 1% of historical changes in international migration, the study found, because migration decisions are driven by multiple other factors besides weather. 

Following periods of high heat, the analysis shows, children younger than 15 become less likely to migrate to a new country, while adults with little education become likelier to move away – especially those over 45. Cross-border migration rates of adults with education beyond high school, meanwhile, are little affected by weather.  

“Our results indicate that many among those most likely to suffer from climate change impacts will not be able to get out of harm’s way,” the authors write. This creates a “double penalty,” whereby the people with the least resources to adapt in place also lose access to migration as a viable adaptation strategy as the world warms. 

Escaping high heat

Baseline climate conditions appear to play a larger role in shaping moves within countries. “The effects of weather stress on people’s decision to relocate within their own country depend more on local climate zones, as well as demographics,” Benveniste said.

For example, adults with higher education living in tropical areas become more likely to relocate within their own countries when temperatures rise. The authors found a single day above 102 degrees Fahrenheit in a tropical zone where the baseline temperature is around 86 F correlates with a roughly 0.5% bump in within-country migration rates among people with higher education, but no effect among those with little education beyond grade school. 

In areas that are normally dry and hot, the researchers found unusually severe dry spells increase within-country migration, particularly among the least educated. 

No evidence for mass border surges

Projecting forward under a scenario where Earth’s average temperature rises beyond 2.1 degrees Celsius above pre-industrial levels, the study estimates migration rates by 2100 could rise by about a quarter among older, less educated adults and fall by as much as a third among the youngest and least educated. These demographic-specific swings are much larger than the 1-5% changes seen when looking only at population averages. 

To single out the effect of weather and climate, the authors assumed other migration drivers like conflict, politics, and job opportunities remain fixed. This approach is designed to show “how climate stress will change who is able to move and who is left behind, not to predict the number of people that will move in future decades,” Benveniste explained.

Actual future migration will depend on a broad array of social, economic, and policy factors – including nascent efforts to help populations thrive in place or improve their ability to move. “We hope that policymakers use these results as a basis to more squarely address the needs of different demographic groups,” Benveniste said. “We need to answer the needs not just of the people who move, but also those who are moving less.”

 

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Benveniste’s work on this study was supported by the French Environmental Fellowship Fund at the Harvard University Center for the Environment and the Salata Institute for Climate and Sustainability’s Research Cluster on climate adaptation in South Asia at Harvard University.

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Journal

Nature Communications

DOI

10.1038/s41467-025-62969-3 

Article Title

Global climate migration is a story of whoand not just how many

Article Publication Date

3-Sep-2025