�� Feature Channel: Genetics

Fatal Neurodegenerative Disease in Kids Also Affects the Bowel

Washington University in St. Louis — Wed, 15 Jan 2025 14:00:00 EST

Researchers at WashU Medicine have described the neurodegeneration that occurs in the nervous system of the bowel in Batten disease, a rare and fatal genetic condition. In their latest study, a team led by Jonathan Cooper, PhD, professor of pediatrics at WashU Medicine, showed that gene therapy to the bowel in mice modeling Batten disease reduced symptoms and extended lifespan.

Mayo Clinic Accelerates Personalized Medicine Through Foundation Models with Microsoft Research and Cerebras Systems

Mayo Clinic — Tue, 14 Jan 2025 19:10:50 EST

Mayo Clinic today unveiled separate groundbreaking collaborations with Microsoft Research and with Cerebras Systems in the field of generative artificial intelligence (AI), designed to personalize patient care, significantly accelerate diagnostic time and improve accuracy.

Texas A&M AgriLife Research Aims for Better Control of Widespread Tomato Spotted Wilt Virus

Texas A&M AgriLife — Tue, 14 Jan 2025 18:45:13 EST

Texas A&M AgriLife Research scientists have received two grants from the U.S. Department of Agriculture and the National Science Foundation to develop better control and understanding of tomato spotted wilt virus, one of the top 10 most economically important plant viruses in the world.

New Mechanism for Maintaining Genome Stability Discovered

Rockefeller University — Tue, 14 Jan 2025 18:40:42 EST

New research reveals how the RapA enzyme protects against R-loop cytotoxicity in E. coli.

Researchers at Case Western Reserve University, Cleveland Clinic Cole Eye Institute Collaborate with U.S. Department of Veterans Affairs to Identify Genetic Risks for Age-Related Macular Degeneration

Case Western Reserve University — Tue, 14 Jan 2025 16:50:21 EST

Age-related macular degeneration (AMD), which affects about 200 million people worldwide and can result in legal blindness, impairs an area of the eye (retina) used for reading, driving and many other critical daily tasks. A new study of large existing patient datasets indicates genetic and demographic factors that increase the risk for developing AMD. In the study, recently published in Nature Genetics, a team of scientists worked with the Million Veteran Program (MVP) of the VA Office of Research and Development, a large biobank of veterans recruited at more than 60 U.S. Department of Veterans Affairs (VA) medical centers nationally, to examine demographic, lifestyle, clinical and genetic risk profiles for AMD.

Winners of 2025 ARVO Foundation Research Catalyst Awards announced

Association for Research in Vision and Ophthalmology (ARVO) — Tue, 14 Jan 2025 10:10:34 EST

Rockville, Md.--Ngozi Chidi-Egboka, OD, MPH, PhD (University of Sydney, Australia) and Mary Anne Garner, PhD (University of Alabama at Birmingham) have been named the 2025 recipients of the ARVO Foundation Research Catalyst Awards. Established in 2023, the $30,000 awards support an initial project for a superb research idea by an investigator beginning their career or returning to the workforce after an extended leave.

Genetic Risk for Mental Health Issues Is Linked to Higher Divorce Rates

Rutgers University-New Brunswick — Tue, 14 Jan 2025 08:00:00 EST

A Rutgers Health study of 2.8 million Swedish people finds divorced individuals more likely to carry genetic predispositions for psychiatric disorders.

Nuclear Speckles Identified as Key Hubs for Gene Expression Regulation

University of California, Irvine — Fri, 10 Jan 2025 20:15:07 EST

Scientists at the University of California, Irvine have discovered that nuclear speckles, a membraneless organelle within the nucleus, serve as central hubs for pre-mRNA 3′ end processing. This discovery advances the understanding of how spatial organization within cells impacts gene expression and could open new avenues for treating diseases influenced by RNA processing defects.

Why New Precision Oncology Cancer Treatments Benefit Patients of Some Ancestries More Than Others

Memorial Sloan Kettering Cancer Center — Fri, 10 Jan 2025 18:35:52 EST

Patients of European ancestry are more likely to find a match to the latest targeted cancer drugs than patients of other ancestries, according to new MSK research. This trend could exacerbate disparities in cancer outcomes.

Pesquisadores resolvem a incerteza no teste BRCA2, aprimorando a avaliacao de risco de cancer e o cuidado com o paciente

Mayo Clinic — Thu, 09 Jan 2025 22:20:03 EST

As novas descobertas de um estudo internacional liderado por pesquisadores do Centro Oncologico Integral da Mayo Clinic tem avancado significativamente a compreensao sobre as alteracoes geneticas no gene BRCA2, uma peca chave no risco de hereditariedade para o cancer.

MSU Researcher Connects Change in DNA to Cleft Palate Phenomenon

Michigan State University — Thu, 09 Jan 2025 22:05:03 EST

Cleft lip and cleft palate are some of the most common birth defects in people, affecting roughly one in every 700 babies in the world. Cleft lip -- when the upper lip is split -- is more common than cleft palate -- when the roof of the mouth (palate) is split -- except in Finland, where cases of cleft palate are so common they flip the ratio of cleft lip to cleft palate.

University Hospitals and Case Western Reserve University Collaborative Science Pilot Awards Infuse $250,000 to Accelerate Five Promising Research Projects

University Hospitals Cleveland Medical Center — Thu, 09 Jan 2025 19:05:43 EST

In the spirit of encouraging and more rapidly advancing team science between clinical and basic science faculty, University Hospitals and Case Western Reserve University School of Medicine have jointly funded five research teams engaged in new and promising scientific studies.

Investigadores resuelven la incertidumbre en la prueba para el BRCA2, mejorando la evaluacion del riesgo de cancer y la atencion al paciente

Mayo Clinic — Thu, 09 Jan 2025 19:00:27 EST

Los nuevos hallazgos de un estudio internacional dirigido por investigadores del Centro Oncologico Integral de Mayo Clinic han avanzado significativamente la comprension sobre los cambios geneticos en el gen BRCA2, una pieza clave en el riesgo de cancer hereditario.

Science Behind Genetic Testing for Identifying Risk of Opioid Misuse Remains Unproven

Perelman School of Medicine at the University of Pennsylvania — Thu, 09 Jan 2025 11:00:00 EST

Opioid misuse and specifically opioid use disorder (OUD), continues to represent a significant U.S. public health threat, with more than 6 million Americans aged 12 and older meeting the criteria for OUD in 2022. Efforts to ease the crisis have included the development of genetic testing to identify individuals most at risk for OUD.

UC Irvine-Led Team Discovers Potential New Therapeutic Targets for Huntington's Disease

University of California, Irvine — Wed, 08 Jan 2025 23:00:39 EST

A University of California, Irvine-led research team has discovered intricate molecular mechanisms driving the RNA processing defects that lead to Huntington's disease and link HD with other neurodegenerative disorders such as amyotrophic lateral sclerosis, frontotemporal lobar dementia and Alzheimer's disease.

St. Jude Scientists Create Scalable Solution for Analyzing Single-Cell Data

St. Jude Children's Research Hospital — Wed, 08 Jan 2025 22:35:05 EST

St. Jude bioinformaticists created a machine-learning algorithm capable of scaling with these single-cell data repositories to deliver more accurate results. Published in Cell Genomics.

Study Unveils 13 Genes That Increase Risk of Osteoarthritis

University of North Carolina School of Medicine — Wed, 08 Jan 2025 20:05:42 EST

A new study by researchers at the UNC Thurston Arthritis Research Center at the UNC School of Medicine has identified 13 risk genes that can increase chances for developing osteoarthritis, jumpstarting research that could lead to new, targeted treatments.

Researchers Resolve Uncertainty in BRCA2 Testing, Improving Cancer Risk Assessment and Patient Care

Mayo Clinic — Wed, 08 Jan 2025 20:00:06 EST

Findings from a multi-institutional, international study led by researchers from the Mayo Clinic Comprehensive Cancer Center have significantly advanced the understanding of genetic alterations in the BRCA2 gene, a key player in hereditary cancer risk.

UC San Diego Health First to Offer Novel Gene Therapy for Hemophilia B

UC San Diego Health — Wed, 08 Jan 2025 18:45:16 EST

UC San Diego Health one of a few health care systems on West Coast to offer new gene therapy for hemophilia B.

Tinkering with the "Clockwork" Mechanisms of Life

Universite de Montreal — Wed, 08 Jan 2025 12:00:30 EST

Opening new doors for the development of nanotechnologies in medicine, UdeM scientists recreate two natural mechanisms to better program the timescale of molecular communication and functionality.

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