https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics The saying "cold hands, warm heart" is usually meant metaphorically—but new research from UC Davis School of Medicine and collaborating institutions suggests it has a striking biological parallel. https://medicalxpress.com/news/2026-05-cold-skin-hot-heart-gene.html Sat, 02 May 2026 07:00:01 EDT news696909924 The emergence of neuropsychiatric disorders, conditions that affect various brain functions and behaviors, is known to be driven by an intricate combination of factors. These can include both a genetic predisposition and exposure to traumatic events or other external circumstances. https://medicalxpress.com/news/2026-04-cell-analysis-uncovers-genes-neuropsychiatric.html Fri, 01 May 2026 07:40:01 EDT news696609691 Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 million worldwide—remains poorly understood from a biological perspective, which has historically hindered both its accurate diagnosis and the development of effective treatments. Now, an international study published in Nature Genetics provides new data to better understand the genetic basis and mechanisms involved in this condition. https://medicalxpress.com/news/2026-04-million-women-knowledge-endometriosis-biological.html Thu, 30 Apr 2026 16:00:07 EDT news696774062 Pancreatic cancer can remain quiet for years, developing undetected before causing symptoms that lead to a diagnosis. Even after a surgeon removes a pancreas tumor, other cells often hide and erupt later. But University of Rochester Medicine researchers made an important laboratory discovery about why and how this happens—with the goal of targeting pancreas cancer with newer immunotherapy drugs. https://medicalxpress.com/news/2026-04-genetic-discovery-pancreatic-cancer-difficult.html Thu, 30 Apr 2026 13:00:08 EDT news696768841 Years before he conducted the research that would earn him a Nobel Prize in Physiology and Medicine, Shinya Yamanaka, MD, Ph.D., was a postdoctoral scientist at Gladstone Institutes, studying genes. There, he helped discover a gene (now called eIF4G2) that's essential for early embryonic development. https://medicalxpress.com/news/2026-04-gene-intestinal-stem-cells-stable.html Thu, 30 Apr 2026 11:00:25 EDT news696760802 In people with type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy. As a result, they are dependent on external sources of the hormone for the rest of their lives. Predicting who will develop T1D remains difficult, as existing genetic risk scores are largely limited to individuals with well-known high-risk variants. https://medicalxpress.com/news/2026-04-genetic-diabetes-accurate-machine.html Thu, 30 Apr 2026 10:40:06 EDT news696763921 Scientists have uncovered an unexpected way cells can generate cancer-driving proteins—by cutting RNA into shorter, functional fragments rather than following the standard blueprint. This process, newly termed as "RNA dicing," enables the production of a truncated form of the JAK1 protein that remains highly active and can promote tumor growth, particularly when normal gene function is disrupted. https://medicalxpress.com/news/2026-04-cancer-cells-rewrite-rna-messages.html Tue, 28 Apr 2026 19:00:01 EDT news696612962 Activation of a specific part of the Dicer enzyme can change its shape in a way that affects its critical role in proper cell division, with implications for both cancer biology and fertility, according to researchers at The University of Texas MD Anderson Cancer Center. https://medicalxpress.com/news/2026-04-dicer-enzyme-affects-infertility-cancer.html Tue, 28 Apr 2026 18:20:03 EDT news696610231 An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in rhesus macaques at the California National Primate Research Center at the University of California, Davis. The work, published in Proceedings of the National Academy of Sciences, could lead to a better understanding of autosomal dominant optic atrophy (ADOA), and potentially to new treatments. https://medicalxpress.com/news/2026-04-macaques-reveal-human-genetic-inherited.html Tue, 28 Apr 2026 18:00:03 EDT news696610020 In two new studies, researchers at the UC Davis MIND Institute have clarified how a long-banned group of chemicals, called polychlorinated biphenyls (PCBs), affect genetic activity. The research helps explain how biological systems respond to these exposures, including key differences between males and females. https://medicalxpress.com/news/2026-04-chemical-lingers-strangest-effect-sex.html Tue, 28 Apr 2026 17:50:04 EDT news696615542 The quail is a small, unassuming bird that glides rather than flies and prefers to hide under bushes than to perch on top of a tree. And now, it's also helping scientists understand serious birth defects in humans. https://medicalxpress.com/news/2026-04-fluorescent-quail-embryos-birth-defects.html Tue, 28 Apr 2026 17:00:08 EDT news696597170 A new study led by researchers at UNSW Sydney's Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious yet currently untreatable form of dementia. https://medicalxpress.com/news/2026-04-treatment-vascular-dementia.html Tue, 28 Apr 2026 09:40:03 EDT news696587163 Scientists at St. Jude Children's Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short synthetic nucleic acid strands that target specific messenger RNA. In work published in Science Translational Medicine, the researchers show that ASOs block production of the aberrant HNRNPH2 protein. This consequently boosts expression of the closely related HNRNPH1 protein, reducing multiple symptoms of the disorder. The work provides vital mechanistic data to support the advancement of this promising therapy to clinical studies. https://medicalxpress.com/news/2026-04-antisense-oligonucleotide-strategy-reverses-hnrnph2.html Sun, 26 Apr 2026 09:00:03 EDT news696091091 Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body's blood sugar levels. The study, published in Nature Metabolism, shows how chemical changes to DNA affect both insulin-producing beta cells and glucagon-producing alpha cells—and how these patterns change in type 2 diabetes. https://medicalxpress.com/news/2026-04-epigenome-reveals-blood-sugar-cells.html Fri, 24 Apr 2026 14:40:05 EDT news696254462 Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and reduces life expectancy mainly as it causes lung and respiratory problems. Over the years, scientific research has led to the development of several pharmacological therapies for this disease. https://medicalxpress.com/news/2026-04-gene-therapy-untreatable-cystic-fibrosis.html Fri, 24 Apr 2026 14:20:06 EDT news696254282 New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers at KTH Royal Institute of Technology and Karolinska Institutet have identified rare DNA changes during fetal development that can lead to the aortic valve forming with only two cusps instead of three, a condition known as bicuspid aortic valve (BAV). https://medicalxpress.com/news/2026-04-genetic-reveals-common-heart-valve.html Fri, 24 Apr 2026 13:20:06 EDT news696254101 More than two in five U.S. adults have prediabetes, a condition marked by higher-than-normal blood sugar levels that often leads to type 2 diabetes. A new study finds that vitamin D may help delay or prevent that progression, but only in people with certain genetic variations. https://medicalxpress.com/news/2026-04-vitamin-d-diabetes-genes.html Thu, 23 Apr 2026 18:20:03 EDT news696169374 Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Despite the syndrome stemming from an altered genetic code for the single protein fragile X messenger ribonucleoprotein (FMRP), its symptoms are broad and variable; people with FXS can have a range of behavioral and physical symptoms, and around 40% of people with FXS also have autism spectrum disorder. There is currently no cure for FXS; treatments are limited to medications and therapies to help manage symptoms. https://medicalxpress.com/news/2026-04-astrocytes-reveal-fragile-pathway-seizures.html Thu, 23 Apr 2026 17:50:01 EDT news696178742 A novel strategy that combines computational and experimental approaches has allowed researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital to distinguish alterations in gene function that contribute to Parkinson's disease from those that protect from the condition. The study, published in Neurobiology of Disease, revealed novel risk factors and previously unrecognized therapeutic targets, offering hope for a future in which effective therapies will be available to prevent, slow down or stop this devastating disease. https://medicalxpress.com/news/2026-04-gene-screen-strategy-parkinson-protectors.html Thu, 23 Apr 2026 17:30:02 EDT news696178621 A study conducted in an Indian population has identified new molecular pathways that contribute to cardiovascular disease, which had not been reported previously in studies of Europeans. Dharambir Sanghera of the University of Oklahoma Health Sciences Center, U.S., led the new study, which was published in the open access journal PLOS Medicine. https://medicalxpress.com/news/2026-04-genetic-clues-indians-reveal-lipid.html Thu, 23 Apr 2026 17:00:02 EDT news696175141 A new study from Karolinska Institutet shows that gene analysis of breast cancer tumors can identify patients who do not benefit from chemotherapy given before surgery. The findings, published in the journal Nature Communications, could in the long term contribute to more personalized treatment. https://medicalxpress.com/news/2026-04-genetic-chemo-response-breast-cancer.html Thu, 23 Apr 2026 16:00:06 EDT news696173822 Most fat stores energy; the body's brown fat does the opposite. Unlike the white fat that accumulates just under our skin, brown fat burns calories and glucose to generate heat. Formally known as brown adipose tissue, it is a specialized metabolic tissue whose importance in adults has only come into focus in recent years. Brown fat—stored in small, distinct pockets deep within the body—plays an outsized role in body-weight regulation and blood-sugar control, making it an attractive target for metabolic therapies. https://medicalxpress.com/news/2026-04-3d-dna-brown-fat-reshape.html Thu, 23 Apr 2026 11:20:01 EDT news696161222 It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome. https://medicalxpress.com/news/2026-04-unraveling-evolution-leukemia-children-syndrome.html Thu, 23 Apr 2026 09:40:01 EDT news696154621 Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some older adults are more likely to be frail than others. https://medicalxpress.com/news/2026-04-hidden-dna-region-frailty-exposing.html Wed, 22 Apr 2026 05:00:12 EDT news695980322 Sox9, a master regulator of cartilage formation, switches its target genes dynamically during embryonic limb development instead of following a fixed program, as reported by researchers from Science Tokyo. They analyzed mouse embryonic forelimb cells across different developmental stages using single-cell-level gene expression analysis and a state-of-the-art technique to detect Sox9's DNA binding sites. The findings lay the foundation for future research on skeletal diseases and regenerative medicine. https://medicalxpress.com/news/2026-04-key-regulatory-protein-cartilage-formation.html Tue, 21 Apr 2026 17:30:03 EDT news696008461 As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations in specific cancer-driving genes, yet they don't manifest as cancer. Instead, these mutations may help drive Alzheimer's disease. https://medicalxpress.com/news/2026-04-unexpected-cancer-mutations-brain-immune.html Tue, 21 Apr 2026 11:00:01 EDT news695979242 Patients with a specific type of bowel cancer who were treated with a short course of immunotherapy before surgery instead of post-op chemotherapy have remained cancer-free after almost three years of follow-up, according to new results from the NEOPRISM-CRC clinical trial led by a team from UCL and UCLH. https://medicalxpress.com/news/2026-04-bowel-cancer-immunotherapy-clinical-trial.html Mon, 20 Apr 2026 17:30:01 EDT news695893862 Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known as AARS2-related cardiomyopathy, is caused by inherited mutations in the alanyl-transfer RNA (tRNA) synthetase 2 (AARS2) gene and is often fatal within the first year of life. Currently, no treatment or cure exists. https://medicalxpress.com/news/2026-04-newly-uncovered-gene-rewires-infant.html Mon, 20 Apr 2026 12:20:08 EDT news695905201 The physical differences between men and women are all too obvious, but the biological divide goes right down to the cellular level in the brain, according to a new study published in the journal Science. https://medicalxpress.com/news/2026-04-sex-differences-brain-gene-disorders.html Sat, 18 Apr 2026 10:00:01 EDT news695651908