Monday, September 28, 2026

 

First known case of Marfan syndrome discovered in feline siblings




Cornell University






Media note: Photos of Shaggy and Gary can be found and downloaded here.


ITHACA, N.Y. — Researchers at Cornell University have documented the first molecular characterization of Marfan syndrome in domestic cats in a paper in Scientific Reports.

As kittens, feline siblings Gary and Shaggy had noticeably longer limbs, and later examinations revealed problems with the structures of their eyes and enlargement of the aorta. That pointed veterinarians toward Marfan syndrome, a rare inherited disorder, seen mostly in humans, that weakens the body’s connective tissues. It affects about 1 in 4,000 people, but this was the first known documented case in cats.

“The findings provide a foundation for improved veterinary diagnostics,” said senior author Dr. Jacquelyn Evans, assistant professor in the College of Veterinary Medicine and at the Baker Institute for Animal Health. “It can help veterinarians recognize similar cases in the future and may help develop genetic tests.”

A multidisciplinary team combined detailed clinical evaluations with genetic sequencing to identify the gene responsible for the feline siblings’ condition: FBN1, which codes for a protein called fibrillin-1, a building block of the body’s connective tissues found throughout the body, including in blood vessels, bones, ligaments, skin and eyes.

Researchers found that both brothers carried two altered copies of the FBN1 gene, meaning they inherited a changed copy from each parent. In humans, just one altered copy of the FBN1 gene can cause Marfan syndrome. Inheriting two altered copies is extremely rare and can interfere with the body’s ability to produce normal fibrillin-1.

In the case of Gary and Shaggy, however, further investigation showed that the cats’ variant did not completely shut down the gene. Instead, it partially disrupted the way the gene’s instructions are processed, allowing some normal function to remain — explaining how the cats survived into adulthood despite carrying two copies of a variant that otherwise might have caused more severe disease.

For additional information, read this Cornell Chronicle story.

Cornell University has dedicated television and audio studios available for media interviews.

-30-

 

Get by with a little help from (old) friends



Chemical signatures in fossils indicate chemosymbiosis predates the Cambrian era.




Washington University in St. Louis






At the bottom of the deepest parts of the ocean, tube worms are living their best life thanks to help from their neighboring microbes, which oxidize the sulfide in the surrounding waters and detoxify the environment. The question is, how far back do these “old friends” go?

“There are a whole host of organisms that have these partnerships in the environment today,” said David Fike, the Glassberg/Greensfelder Distinguished University Professor of Earth, Environmental, and Planetary Sciences in Arts & Sciences at Washington University in St. Louis. He was speaking of chemosymbiosis, the process wherein microbes adjust the surrounding chemical environment to benefit the host animal.

“Previously, we didn’t know if that is a relatively recent evolutionary event, or if that emerged all the way back when animals first evolved,” he added.

The fossil record is sketchy when it comes to evidence of microbe and animal symbiosis. But modern earth science tools potentially can highlight chemical signatures that correlate with this form of symbiosis. Pyrite fossils from the seafloor can preserve those chemical signatures.

In collaborative research led by Nanjing University and published in Proceedings of the National Academy of Sciences, Fike and co-authors document how they found evidence in such fossils that chemosymbiosis is a very old trick of evolution, found in fossils from the Ediacaran Period, a time between 635 to 540 million years ago that predates the Cambrian explosion. The Ediacaran Period was when the first multicellular life evolved, and one reason such life may have evolved was microbial help making that toxic ocean a bit more hospitable.

In the new paper, Fike and his co-authors present geochemical data that suggests the proto-worms of the Ediacaran had the same symbiotic relationship with bacteria, sulfide and oxide as the tube worms of today.

 “It was a very early evolutionary strategy, one that helped animals survive and spread throughout the ocean,” Fike said.


Wang Z, Peng Y, Tang Q, Schiffbauer JD, Xiao S, Fike DA, Jia Z, Feng D, Crockford PW, Cai Y, Yuan X, Pratt LM. Chemosymbiotic trophic strategy in an Ediacaran tubular animal, Proc. Natl. Acad. Sci. U.S.A. 123 (35) e2526201123. https://doi.org/10.1073/pnas.2526201123

The work was supported by the National Natural Science Foundation of China (92479205, 424B2024, and 42525202); J.D.S. acknowledges NSF support (LET-2422405) and the University of Missouri Marie M. and Harry L. Smith endowment. S.X. acknowledges NSF support (DEB-2449384). Other support came from the Fundamental Research Funds for the Central Universities (0206/14380204, 0206/14380253, 0206/14380234, and 0206/14380237), the New Cornerstone Science Foundation through the XPLORER PRIZE (to Y.P.), Open Research Fund (2025-Z03) of State Key Laboratory of Critical Earth Material Cycling and Mineral Deposits of Nanjing University, and the “GeoX” Interdisciplinary Project of Frontiers Science Center for Critical Earth Material Cycling (20250201, 20250101).

 

 

University of Montana researchers study using birding to improve stroke outcomes




The University of Montana
Three UM researchers

image: 

The researchers driving University of Montana work into using birding to help stroke patients overcome speak impairments are (left to right) Catherine Off, Victoria Dreitz and Jenna Musick.

view more 

Credit: UM photo by Ryan Brennecke






By Naomi DeMarinis, UM News Service 

MISSOULA – On the wooded University of Montana campus, resident Cooper’s hawks are helping people recover from stroke.

Each summer, stroke survivors enrolled in UM’s Intensive Comprehensive Aphasia Program take part in community- and curiosity-driven bird-related activities.

Birding, it seems, provides a natural, low-pressure setting that encourages communication through shared attention and curiosity. Bird researchers and speech-language experts offer the healing activities under the auspices of UM’s Big Sky Aphasia Program.

“The linguistic demand is low, and people can participate at whatever level they want,” said Dr. Jenna Musick, co-director of the program.

With research about the program now published in the journal Frontiers in Bird Science, the team is focused on measuring outcomes, training clinicians, and expanding the model so that similar programs can benefit stroke survivors with aphasia beyond Montana.

The partnership began in 2021 on an outdoor campus patio. ICAP participants expressed an interest in learning more about owls as part of their rehabilitation activities. Owl artifacts, including preserved specimens and related materials, sparked participants' curiosity and created opportunities to practice conversation.

The activity evolved into an ongoing collaboration between Dr. Victoria Dreitz, an avian ecologist in UM’s Wildlife Biology Program, and Musick and Catherine Off, researchers who are campus experts in stroke rehabilitation and research in the School of Speech-language, Hearing and Occupational Sciences.

From owl artifacts to nesting Cooper’s hawks, the partnership has grown into an essential component of the UM birding program, with avian observation demonstrating how nature experiences support communicative participation, engagement and quality of life for people with aphasia.

An acquired neurologic disorder, aphasia is usually a chronic condition that affects language and communication. One-third of stroke survivors experience aphasia and often have trouble speaking, understanding spoken language, and reading and writing. The condition can negatively impact people’s ability to participate in their communities, leading to isolation and depression.

“Aphasia is an identity theft,” said Dr. Off, who co-directs UM’s Big Sky Aphasia Program. “People with aphasia do not have intellectual challenges. They are themselves inside their own head. The challenge is that their language function has changed.”

She said the most effective rehabilitation strategies incorporate clinical treatment with opportunities for meaningful engagement in real life.

“Communication function doesn’t improve until you want to communicate about something,” Off said. “We’re out of the therapy room now. We’re saying: Enjoy being with people, enjoy being outside and let the communication come.”

Perhaps surprisingly, birds are particularly well suited for this approach. And with its wilderness-adjacent landscape, UM is home to many species of birds and is an ideal location to offer bird-centered experiences to onsite participants of the clinical program.

Dreitz said bird watching in group settings supports engagement through shared attention while participating in a nature experience – both of which have been shown to improve well-being. Birdsong and calls, bird movements and seasonal rhythms, and birds’ nearly universal presence in both urban and rural areas make them both accessible and interesting.

“Birds are one of those rare things where your entry point can be anywhere – from sitting and staring out a window to mapping out a trail to see a unique species,” Dreitz said. “You can start where you’re at. What do you have in your backyard? That’s what it's about.”

The Avian Science Center at UM is a national leader in bird and natural resource conservation. Dreitz directs the center, which embraces interdisciplinary research and collaborates with local, national and international organizations to address complex conservation challenges.

But its most unique collaboration, Dreitz said, is the partnership with speech-language pathology, which reflects UM’s commitment to interdisciplinary learning.

Communication challenges like aphasia often leave people feeling disconnected from former identities and activities.

“People may feel they can’t return to the hobbies they once loved, but finding a new passion can create excitement and purpose,” said Musick.

Working side by side, the team supports ICAP participants through bird-centered engagement. Stroke survivors discuss what they see, ask questions, help one another use equipment and continue conversations with their families afterward.

“They go home that night and talk to their care partners about it,” Musick said. “It creates ongoing conversation.”

Unique to UM, this program reflects the University’s commitment to combining innovative programs, natural environments and interdisciplinary opportunities that deliver meaningful impact.

“This is so Montana,” Musick said. “Now, how do we make this part of what rehabilitation looks like?”

###

 

Solving Alzheimer’s with math? Researcher explores the possibilities




Mississippi State University
Shantia Yarahmadian

image: 

Mississippi State Associate Professor Shantia Yarahmadian is using mathematical modeling to examine how common metals may influence a protein that forms plaque associated with Alzheimer’s disease—and how potential therapies could alter these processes.

view more 

Credit: Office of Public Affairs, Mississippi State University






STARKVILLE, Miss.—What can mathematics reveal about Alzheimer’s disease? Mississippi State Associate Professor Shantia Yarahmadian is using mathematical modeling to examine how common metals may influence a protein that forms plaque associated with Alzheimer’s disease—and how potential therapies could alter these processes.

The work, published recently in Bulletin of Mathematical Biology, builds on Yarahmadian’s research into mathematical models of Alzheimer’s disease.

“Every biological phenomenon occurs in the physical world—in space and time—and involves changes in shape, quantity and matter,” said Yarahmadian, a faculty member in MSU’s Department of Mathematics and Statistics. “Because of its abstract power, mathematics allows us to uncover patterns, test hypotheses and make predictions that may not be possible through observation alone. Mathematics does not replace laboratory or clinical research; it complements it by helping us understand the larger system, identify the most influential mechanisms and guide future experiments.”

Yarahmadian developed a framework that simulates the chain of reactions through which metals such as copper and zinc may influence amyloid-beta protein aggregation and plaque formation. The model also allows researchers to examine two potential approaches to disrupting that process. To test it, Yarahmadian and his collaborators compared its results with experimental data from atomic force microscopy, a technique used to examine microscopic aggregates.

The model successfully reproduced the patterns seen in the laboratory, an important step to prove the model is not just a theoretical calculation. It can accurately predict real-world behavior, giving scientists greater confidence in understanding how aggregates form and potentially how they might be controlled.

“What drew me to Alzheimer’s research is the combination of its profound human impact and its extraordinary biological complexity,” he said. “My goal is to use mathematical modeling to identify important mechanisms and generate insights that may help guide future experimental and therapeutic research.”

Visit the MSU College of Arts and Sciences and Department of Mathematics and Statistics websites for more information.

Mississippi State University is taking care of what matters.

 

KU receives $5.8 million NIH Phase 3 COBRE funding for Chemical Biology of Infectious Disease center





University of Kansas

Fighting infectious disease and antibiotic resistance

image: 

The Chemical Biology of Infectious Disease Center (CBID) strengthens and expands the KU scientific community as they address urgent challenges in infectious disease and antibiotic resistance using chemical biology approaches. The Shankel Structural Biology Center houses several CBID-related core labs and programs.

view more 

Credit: University of Kansas






LAWRENCE — As antibiotic resistance makes everyday infections tougher to treat and emerging pathogens drive challenging infectious-disease outbreaks, researchers in Kansas from multiple disciplines and institutions are teaming up to target pathogens and overcome antibiotic resistance.

The National Institutes of Health recently awarded the University of Kansas $5.8 million for Phase 3 of KU’s Chemical Biology of Infectious Disease center, an NIH Center of Biomedical Research Excellence (COBRE) that was established in 2016. The center recruits, mentors and supports investigators across KU, KU Medical Center, Kansas State, Wichita State and other regional partners as they address urgent challenges in infectious disease and antibiotic resistance using chemical-biology approaches. A Phase 3 award is intended to help a research center along a sustainable path beyond COBRE support at the federal level.

P. Scott Hefty, professor and chair of molecular biosciences at KU, is the center’s director and principal investigator. He is joined by co-principal investigators Jon Tunge, professor of medicinal chemistry, and Mark Farrell, associate professor of medicinal chemistry.

“The primary reason for establishing the CBID center was to bring together infectious disease biologists — and we’re really good at identifying gene products and factors that contribute to disease — and bridging that expertise with our colleagues in chemistry, medicinal chemistry, pharmaceutical chemistry and bioengineering,” Hefty said. “They’re excellent at developing chemical tools and probes and approaches to address those infectious disease components. Oftentimes, expertise isn’t shared. We’re both good at what we do, but together is where we really do excel.”

The center gives investigators access to four core research labs organized around infectious disease high-throughput screening, computational chemical biology and molecular modeling, synthetic chemical biology and flow cytometry. Participating researchers can apply for funds for pilot projects and vouchers for “low-barrier” use of the center’s core facilities. The center also brings together researchers for monthly programs and annual symposia.

“You just have to get scientists in a room, sharing science, talking science, and great things come out of that,” Hefty said. “Often, collaborations and events happen organically.”

For proof of that under Phase 1 and 2 funding, the center can point to seven faculty recruited, contributions to 15 startups, about $25 million in NIH funding over 10 years and $90 million from broader research projects, pilot projects and cores; authorship in more than 600 publications and 80 scientific affiliates.

Beyond research, Hefty said the center has contributed to faculty development and retention as well as high-tech regional workforce development.

“There’s a lot of training that goes into this, and it cannot be understated the number of undergraduates, graduate students and postdocs that have had an opportunity for 10 years and will for at least another five, to learn these techniques, tools and approaches,” he said. “They’re going to go out, whether it’s in Kansas regionally, into new professions. That workforce development, the training that happens for our students, I think that is one of the primary outcomes.”

Beyond developing pathogen-specific compounds and tools, Hefty said the theme of fighting antibiotic resistance would guide research under the center’s Phase 3 award. Rather than developing broad-spectrum antibiotics, research will pursue more targeted treatments to protect the body’s beneficial microbiome while defeating resistance mechanisms.

“We know antibiotic resistance has run rampant, and we need better tools and approaches to treat this,” said the KU researcher. “One of the things that we’re really interested in is, can we develop chemical tools, probes and approaches that just target the pathogen of interest? So, if we have an infection with staph, strep, enterococcus, can we target those organisms without disrupting the rest of the flora that’s in our bodies? And can we develop tools to address the antibiotic resistance mechanisms that currently exist?

“I would deem that an incredibly positive outcome if in 10 years there’s an established, formal research chemical biology center with all those scientists that we recruited and supported still participating within those activities,” Hefty said. “It could continue to focus on infectious disease or expand into other areas — that could be cancer, that could be Alzheimer’s or neurological disorders — but that there’s an established research center that continues to support the group of investigators at KU, KU Med and other institutions.”

Hefty acknowledged the KU Office of Research, the College of Liberal Arts & Sciences and the Kansas Board of Regents for their support of the center. The School of Pharmacy also has been a key partner, he said, along with researchers at KU Medical Center in microbiology and biochemistry.

The center’s collaborative approach will be on display Oct. 16-17, when researchers and other stakeholders gather for the fifth annual Chemical Biology Symposium. The event is expected to draw more than 100 attendees, with regional participation including K-State and Wichita State.

According to organizers, “The symposium seeks to provide a forum for Graduate Training in Chemical Biology trainees and Chemical Biology of Infectious Disease researchers to present their work in chemical biology and to cover special topics with invited speakers.”

For Hefty, this kind of cross-pollination of ideas among institutions, departments and disciplines is the whole point.

“We’re breaking down a lot of those disciplinary walls and barriers so that interdisciplinary science can occur and happen in a very productive way,” he said.

 

Famed dancer Nijinsky's diary offers rare window into psychosis



Researchers conduct a ‘computational linguistic autopsy’ to explore language patterns that may one day help clinicians identify symptoms of mental illness



McGill University






More than a century after legendary ballet dancer Vaslav Nijinsky penned a diary in a state of psychosis, McGill University researchers have mined the pages to learn more about how mental illness can affect language.

Nijinsky was once considered among the world's greatest dancers, but his career ended abruptly after the onset of psychosis in 1918. A diary he filled with intensely personal reflections was saved by his wife and initially published in an edited form. Only recently did a version much closer to the original become available.

For Alban Voppel, Assistant Professor of AI and Psychiatry at McGill, the diary presented a rare opportunity.

"Language provides a window into someone's mind," said Voppel, the study’s last author and a researcher at the Douglas Research Centre. "Complete book-length texts written during an active psychotic episode are quite rare, giving us a unique opportunity to study language as the illness was unfolding.”

Key findings

Researchers applied computational language-analysis tools to measure patterns in word use and structure in the diary. They then applied those tools to a text written by Nijinsky's wife, so as to have a point of comparison from the same historical and social context.

The findings, published Medical Humanities, challenge a common assumption about psychosis.

“Nijinsky’s writing was not simply ‘chaotic,' as one might expect from psychosis or thought disorder,” said Voppel.

Instead, the writing displayed a form of repetitive thinking that seemed coherent on the surface but relied on an unusually narrow and repetitive vocabulary.

"It's sort of a fake coherence, a mechanical coherence," Voppel said. "He came back to the same topics and used a lot of the same words, especially 'I,' 'God' and 'love.'"

The findings suggest psychosis can affect language at different levels. A person may retain a broad narrative structure while becoming increasingly restricted in the words and ideas they use.

The next step is to test the findings against modern writing samples to determine whether they reflect a broader linguistic signature of psychosis. Ultimately, the work could contribute to AI-powered tools that help psychiatrists detect subtle clues to mental illness in language and track how symptoms evolve over time.

About the study

“Writing when writhing with psychosis: a computational linguistic autopsy of Vaslav Nijinsky's diary” by Lena Palaniyappan and Alban Voppel et al., was published in Medical Humanities. The research was supported by the Monique H. Bourgeois Chair in Developmental Disorders, the Graham Boeckh Foundation, the Fonds de recherche du Québec-Santé and the Wellcome Trust.