https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, according to a study published in the Journal of Clinical Investigation. https://medicalxpress.com/news/2026-10-ai-tool-epilepsy-genetic-variants.html Thu, 15 Oct 2026 14:20:01 EDT news711291363 When patients are diagnosed with certain brain tumors, one of the biggest unanswered questions is what happens when the cancer returns. Among those are IDH-mutant gliomas, a group of brain tumors that invariably recur despite advances in treatment. https://medicalxpress.com/news/2026-10-brain-tumors-international-tracks-genetic.html Wed, 14 Oct 2026 17:50:01 EDT news711214561 Every organ and tissue progressively loses function and integrity as it ages. In fact, researchers have identified "hallmarks of aging" that not only present specific processes impacted by age, but are also thought of as levers that, if successfully targeted, could help turn back the aging clock and result in tissue rejuvenation. https://medicalxpress.com/news/2026-10-reversing-age-reprogramming-gene-networks.html Wed, 14 Oct 2026 16:50:06 EDT news711212821 A genetic switch that activates immune cells as they fight tumors: this is the new strategy developed by an international research team coordinated by Velia Siciliano at the Istituto Italiano di Tecnologia (IIT—Italian Institute of Technology) in Naples and described in the journal Nature Communications. The study marks another step toward engineering precise and more effective synthetic immunotherapies against solid tumors, such as melanoma and breast cancer. https://medicalxpress.com/news/2026-10-reversible-genetic-cancer-immunotherapy-precise.html Wed, 14 Oct 2026 16:30:01 EDT news711211681 Cells from rapidly growing, highly metastatic tumors often contain numerous rings of extrachromosomal DNA (ecDNA). This circular DNA frequently carries oncogenes—genes that promote cancer. Researchers have long sought vulnerabilities in these DNA rings in an effort to stop their harmful activity. https://medicalxpress.com/news/2026-10-cancer-dna-cell-nucleus-silences.html Wed, 14 Oct 2026 13:20:28 EDT news711198362 New research from scientists at the University of Toronto, the Sloan Kettering Institute, King's College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder (ASD). https://medicalxpress.com/news/2026-10-overlooked-dna-regions-microexons-pieces.html Wed, 14 Oct 2026 11:00:36 EDT news711042901 We now take for granted the idea that a genome-wide association study, or GWAS, can help identify genetic variants associated with complex traits. Such studies have identified loci associated with everything from breast cancer to heart disease to diabetes. https://medicalxpress.com/news/2026-10-bigger-reveal-fourth-gene.html Tue, 13 Oct 2026 18:40:01 EDT news711124290 Some people are born with a defect in their genetic material that prevents their immune system from functioning properly. In people with a condition known as GATA2 deficiency, the body does not produce enough immune cells, leaving them at increased risk of infections and disease. Now, researchers at Aarhus University have demonstrated that they can repair the genetic defect directly in patients' own blood stem cells. https://medicalxpress.com/news/2026-10-prime-immune-disorder-defect-patient.html Tue, 13 Oct 2026 15:20:07 EDT news711116701 Regularly volunteering or informally helping people outside one's home may buffer against accelerated decline in memory and thinking for people with a major genetic risk factor for Alzheimer's disease, according to new research led by The University of Texas at Austin. https://medicalxpress.com/news/2026-10-linked-slower-cognitive-decline-people.html Tue, 13 Oct 2026 14:00:16 EDT news711110354 An analysis of nearly half a million cells from dozens of patients' tumors reveals how cancer cells continuously reshape their genetic makeup over time, enabling them to evade treatment for one of the deadliest forms of cancer. https://medicalxpress.com/news/2026-10-evolving-cells-pancreatic-cancer-evade.html Tue, 13 Oct 2026 05:00:02 EDT news711017461 A research team led by professor Chan Kui-ming from the Department of Biomedical Sciences at CityUHK discovered that H2BE113K, a missense H2B mutation, promotes colony formation and lung metastasis in breast cancer. The research revealed that H2BE113K plays a critical role in chromatin regulation, cellular function and breast cancer progression, shedding light on new targeted therapies for breast cancer. https://medicalxpress.com/news/2026-10-reveal-dna-packaging-protein-mutation.html Mon, 12 Oct 2026 12:00:01 EDT news711022441 An international collaboration led by a neurologist and experts in advanced genomics at Vanderbilt Health has coaxed one of the secrets of extreme longevity from a 194-year-old giant tortoise named Jonathan. https://medicalxpress.com/news/2026-10-extremely-giant-tortoise-jonathan-secret.html Sun, 11 Oct 2026 07:00:02 EDT news710642524 Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have identified new genetic candidates that help explain why autism is diagnosed about four times more often in boys than in girls. The study, published in the American Journal of Human Genetics, reveals that small changes in the gene MECP2 on the X chromosome might help explain part of this difference. https://medicalxpress.com/news/2026-10-genetic-candidates-autism-affects-males.html Sat, 10 Oct 2026 09:00:01 EDT news710767996 Major depressive disorder (MDD), one type of depression, is one of the most common psychiatric conditions worldwide. It is characterized by persistent low mood and a loss of interest in everyday activities, along with changes in sleep, appetite and motivation. https://medicalxpress.com/news/2026-10-physical-weakens-link-genetic-depression.html Sat, 10 Oct 2026 07:40:01 EDT news710765928 Researchers from the University Hospital of Bonn and the University of Bonn have succeeded in dramatically rejuvenating human cells in a test tube. To do so, they directly reprogrammed red blood cell precursors into stem cells from which neurons can be derived. During this process, the molecular clocks that indicate a cell's age were reset. For example, blood cells from an 80-year-old were transformed into stem cells with a molecular age of less than 20 years. https://medicalxpress.com/news/2026-10-blood-cells-year-donor-stem.html Fri, 09 Oct 2026 13:00:06 EDT news710769361 Biomedical engineers at Duke University have developed a three-layer model of human blood vessels that enables researchers to better understand how Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder that causes accelerated aging, affects the vascular system. https://medicalxpress.com/news/2026-10-lab-grown-blood-vessels-reveal.html Fri, 09 Oct 2026 12:20:06 EDT news710766482 For centuries, Polynesian navigators crossed thousands of miles of open ocean, using their knowledge of stars, currents, birds, clouds and the sea to settle islands across the Pacific. Now, a new University of California San Diego study shows the history of voyaging is also reflected in the genomes of Polynesian populations today. https://medicalxpress.com/news/2026-10-polynesian-wayfinding-written-genomes-island.html Thu, 08 Oct 2026 14:00:27 EDT news710674681 A team of hearing specialists at Vanderbilt Health analyzed thousands of data samples in the institution's BioVU biobank to understand genetic susceptibility of sensorineural hearing loss, which is caused by damage to the inner ear. Their study is published in JAMA Otolaryngology-Head & Neck Surgery. https://medicalxpress.com/news/2026-10-genetic-insights-loss-earlier.html Thu, 08 Oct 2026 11:00:20 EDT news710667121 Malaria is one of the deadliest infectious diseases on the planet, afflicting people throughout recorded history. In places where malaria is most common, it's shaped human evolution by driving higher rates of a paradoxically protective genetic change. Two copies of the genetic change cause sickle cell disease, but one copy helps protect people from malaria. Understanding why could help researchers develop new ways to prevent malaria. https://medicalxpress.com/news/2026-10-distinct-malaria-parasites-sickle-cell.html Thu, 08 Oct 2026 05:00:26 EDT news710611861 A gene primarily active in fat and muscles could make a person more susceptible to anorexia nervosa, a deadly eating disorder with one of the highest mortality rates of any psychiatric disease. https://medicalxpress.com/news/2026-10-fat-gene-emerges-contributor-anorexia.html Thu, 08 Oct 2026 00:00:01 EDT news710588222 Researchers have carried out the first single-cell analysis of mitochondrial DNA in a population of brainstem neurons that are particularly vulnerable to degeneration in Parkinson's disease. https://medicalxpress.com/news/2026-10-cell-dna-analysis-reveals-mitochondrial.html Wed, 07 Oct 2026 16:20:04 EDT news710605595 Infertility affects more than 15% of couples worldwide. Thanks to medical science, infertility treatments have come a long way over the past few years. For millions of people, in vitro fertilization (IVF) has opened a medical pathway to having biological children. This procedure gives fertilization a helping hand outside the body. It involves retrieving eggs from the ovaries and fertilizing them with sperm in a laboratory to create embryos. https://medicalxpress.com/news/2026-10-ivf-children-gene-dna.html Wed, 07 Oct 2026 14:40:08 EDT news710594153 A new study led by University of Pittsburgh School of Medicine researchers finds that adults with attention-deficit/hyperactivity disorder (ADHD) face a significantly higher risk of developing dementia or mild cognitive impairment later in life. The research, published today in JAMA Psychiatry, also found that people who carry a higher genetic risk for ADHD face a greater chance of cognitive decline even without a documented diagnosis. https://medicalxpress.com/news/2026-10-health-link-adhd-fourfold-higher.html Wed, 07 Oct 2026 11:00:07 EDT news710519701 Researchers have identified patterns of gene activity associated with severe COVID-19 in children that are shared with other serious respiratory infections. https://medicalxpress.com/news/2026-10-scientists-gene-signatures-children-severe.html Wed, 07 Oct 2026 07:00:05 EDT news710571362 Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder. https://medicalxpress.com/news/2026-10-unexpected-link-rare-metabolic-disease.html Tue, 06 Oct 2026 14:20:20 EDT news710514782 Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing new evidence that a small skin biopsy can often help diagnose these rare and complex conditions without the need for more invasive procedures. https://medicalxpress.com/news/2026-10-international-validates-invasive-approach-mitochondrial.html Tue, 06 Oct 2026 12:20:01 EDT news710506741 It's recommended that all adolescents get vaccinated against human papillomavirus (HPV), as the infection can cause cancer. HPV causes nearly all cases of cervical cancer and about 70% of some forms of head and neck cancers. While some regions of the United States have relatively high rates of HPV vaccination, there are major vaccine shortages in much of the world. https://medicalxpress.com/news/2026-10-hpv-method-stable-easier-vaccines.html Tue, 06 Oct 2026 09:40:27 EDT news710496002