https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, features of the autism spectrum and movement disorders—characteristics very similar to those of Angelman syndrome, a better-known but equally rare condition. However, the exact function of the affected gene (HERC2) and the molecules with which it interacts remained unclear. Without understanding the biology underlying the syndrome, it was difficult to comprehend how it works and to devise therapeutic strategies to treat it. https://medicalxpress.com/news/2026-06-herc2-gene-key-role-rare.html Thu, 11 Jun 2026 15:40:03 EDT news700408622 A new treatment platform developed by researchers at the University of Texas MD Anderson Cancer Center was able to deliver messenger RNA (mRNA) of the full-length DMD gene into preclinical models of Duchenne muscular dystrophy, successfully restoring the production of an important muscle protein, dystrophin, and dramatically improving muscle strength, endurance and function in vivo. https://medicalxpress.com/news/2026-06-gene-therapy-platform-muscle-function.html Thu, 11 Jun 2026 13:40:04 EDT news700402976 Kidney transplantation remains the most effective treatment for end-stage kidney disease, yet a severe shortage of donor organs continues to limit access for millions of patients worldwide. With demand for kidney transplants expected to reach 5 million patients by 2030 and only a fraction of that need currently being met, researchers are exploring innovative approaches to generate transplantable organs. https://medicalxpress.com/news/2026-06-rat-kidneys-grown-mice-insights.html Thu, 11 Jun 2026 11:00:12 EDT news700296866 Researchers at the University of California San Diego have completed a massive genetic study that identifies key biological drivers of cocaine addiction, uncovering a potential new target for treatment that resides in the liver rather than the brain. The study, published in Nature Communications, used a genetically diverse group of nearly 900 rats to map the genetic markers associated with compulsive drug use. https://medicalxpress.com/news/2026-06-genetic-cocaine-addiction-brain-liver.html Thu, 11 Jun 2026 05:00:01 EDT news700299781 How diseases develop and how the body ages can differ between females and males, but the biological reasons for these differences are not fully understood. Researchers are studying the role of sex chromosomes to better understand what may be driving these differences. https://medicalxpress.com/news/2026-06-hidden-dna-genome-protector-health.html Wed, 10 Jun 2026 18:40:03 EDT news700329901 The race to complete the human pangenome—which comprises all genetic information across the human species—has been underway since 2022, when the first complete reference human genome sequence was released by the international Telomere-to-Telomere Consortium. Now, a team led by scientists at the Research Organization of Information and Systems has made a significant contribution to a more complete understanding of human genetics with 20 near-complete variant groups located in disease- and immune-related regions from 10 Japanese men. https://medicalxpress.com/news/2026-06-pangenome-graph-variant-groups-japanese.html Wed, 10 Jun 2026 17:40:01 EDT news700326962 Researchers at the Nuffield Department of Medicine, University of Oxford, together with Newcastle University's Translational and Clinical Research Institute and the Department of Immunology at Cambridge University Hospitals NHS Foundation Trust, have identified an important driver of inflammatory bowel disease (IBD). This discovery reshapes understanding of IBD and opens the way to targeted approaches to diagnosis and treatment in a subset of patients. The findings suggest that inflammatory bowel disease is not a single condition, but a group of biologically distinct diseases driven by different underlying mechanisms. https://medicalxpress.com/news/2026-06-decades-puzzle-scientists-uncover-inflammatory.html Wed, 10 Jun 2026 17:00:03 EDT news700323061 To better understand what drives the emergence of symptoms in Rett syndrome, researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital took a closer look at brain cells in mice modeling Rett syndrome before symptoms appeared. They identified a set of dysfunctional genes and specific cell types that are vulnerable early to genetic changes. The study appears in Science Advances. https://medicalxpress.com/news/2026-06-early-rett-syndrome-clues-emerge.html Wed, 10 Jun 2026 14:00:04 EDT news700303441 In 2020, Jennifer Doudna won the Nobel Prize in chemistry for her work on the CRISPR-Cas9 gene-editing technology that allows scientists to precisely modify DNA by cutting it at specific locations. Six years later, a new study in Nature by a team led by Doudna has uncovered a powerful new approach to selectively kill cancer cells using a CRISPR enzyme called Cas12a2. https://medicalxpress.com/news/2026-06-crispr-enzyme-precisely-shreds-dna.html Wed, 10 Jun 2026 13:20:01 EDT news700314843 Our parents' genes, even the ones we didn't inherit, leave a measurable lasting imprint on our lives. An international team led by researchers at the Institute of Science and Technology Austria (ISTA) and the Norwegian Institute of Public Health developed a new approach to analyze genetic data from tens of thousands of families. The study, published this Tuesday in Cell Genomics, found that for height, body weight, and school test performance, the environment shaped by our parents' genes can be nearly as important as the genes we actually inherited from them. https://medicalxpress.com/news/2026-06-human-traits-inherited-genes-imprint.html Tue, 09 Jun 2026 19:20:01 EDT news700243681 An international research team has identified dozens of new genetic risk factors linked to lumbar spinal stenosis, a common degenerative condition of the lower spine. The study, led by researchers at the University of Oulu, provides new insight into the biological mechanisms behind one of the most frequent causes of mobility problems in older adults. The work was published in the journal Nature Communications. https://medicalxpress.com/news/2026-06-nerve-pain-genetic-clues-reshape.html Tue, 09 Jun 2026 19:00:01 EDT news700243022 A study led by researchers at King's College London and QIMR Berghofer Medical Research Institute has analyzed genetic data on anxiety symptoms in 693,869 people of European ancestry, revealing new insights into the genetic pathways involved in the condition. Published in Nature Human Behaviour, the research has found the largest number of genetic associations with anxiety to date. By linking genetic data to the severity of symptoms rather than the yes-or-no category of a clinical diagnosis, the work brings new understanding to the biological continuum behind anxiety that can range from healthy stress responses to debilitating disorder. https://medicalxpress.com/news/2026-06-genetic-links-anxiety-symptoms-uncovered.html Tue, 09 Jun 2026 05:00:01 EDT news700152962 New research tracks how cells prepare gene regulatory decisions that will define their fate during the earliest stages of human development. The study reconstructs a timeline of chromosome folding that brings remote DNA regulatory regions into physical contact with genes they control. This work, from a team at the MRC Laboratory of Medical Sciences (LMS) and Imperial College London, with collaborators from the Babraham Institute in Cambridge, shows that some of these contacts form long before genes are activated, persist through later development and may help preselect the future gene targets of these regions. These findings highlight how the genome's 3D structure helps shape cell identity and could offer clues to how developmental disorders arise. https://medicalxpress.com/news/2026-06-3d-genome-architecture-pre-wires.html Mon, 08 Jun 2026 17:40:01 EDT news700146517 An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene replacement therapy designed to restore the function of the WWOX gene directly in the brain. The treatment, administered at Schneider Children's Medical Center of Israel, represents a significant milestone in the development of precision genetic therapies for rare neurological disorders. https://medicalxpress.com/news/2026-06-world-gene-therapy-infant-brain.html Mon, 08 Jun 2026 13:20:01 EDT news700135092 Cocaine produces strong euphoric effects, but many users experience unpleasant effects after the rewarding aspects of the drug wear off, which serve as a "brake" for continued use. Research suggests that those who go on to misuse cocaine may not have as sensitive a natural brake on their use of the drug. Is there a genetic cause for this variability? https://medicalxpress.com/news/2026-06-heritable-cocaine-rats.html Mon, 08 Jun 2026 13:00:02 EDT news699866921 A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Baylor College of Medicine, Texas Children's Hospital and collaborating institutions in Asia and Europe explain how this disorder presented in five individuals from four unrelated families. https://medicalxpress.com/news/2026-06-disorder-severe-respiratory-dysfunction-linked.html Mon, 08 Jun 2026 12:20:10 EDT news700139042 Damage to DNA in cancer cells can lead to pieces breaking off chromosomes and floating away, like icebergs cracking off a glacier. Just as icebergs are a threat to ships and their crew, these scattered bits of DNA loom large for physicians and cancer patients by having titanic effects on tumor progression and treatment resistance. https://medicalxpress.com/news/2026-06-patient-derived-deadly-dna-loops.html Mon, 08 Jun 2026 07:20:01 EDT news700115941 Rare genetic variants known to cause cardiomyopathy, an inherited cause of a weak heart, can increase the risk of patients developing heart failure. However, new research from Mass General Brigham Heart and Vascular Institute and the Broad Institute of MIT and Harvard reveals that dapagliflozin, a medication used to treat type 2 diabetes, is particularly effective at reducing the risk in individuals who are genetically predisposed to developing heart failure. https://medicalxpress.com/news/2026-06-diabetes-drug-sharply-heart-failure.html Mon, 08 Jun 2026 05:00:01 EDT news699883926 Black women experience disproportionately elevated risks of developing and dying from early-onset breast cancer. New research published in the journal Cancer reveals the genes that are most likely to be mutated to contribute to these increased risks. https://medicalxpress.com/news/2026-06-early-onset-breast-cancer-black.html Mon, 08 Jun 2026 03:10:02 EDT news699810241 Many repetitive regions of the genome have been considered "junk DNA" because the available technologies did not allow them to be studied at sufficient resolution. This is the case for the SST1/NBL2 macrosatellites, considered irrelevant and, until now, virtually invisible, which may have a more complex and decisive biological role than previously thought in nuclear organization, genome regulation, chromosomal instability and even cancer. https://medicalxpress.com/news/2026-06-hidden-junk-dna-regions-cancer.html Fri, 05 Jun 2026 13:20:04 EDT news699873009 With dementia cases expected to nearly triple worldwide by 2050, researchers are increasingly focused on identifying ways to prevent or delay the disease. While lifestyle and health-related factors, such as blood pressure control and physical activity, influence dementia risk, genetics also play a major role. Currently, it is unclear whether maintaining a favorable lifestyle reduces dementia risk equally across different genetic backgrounds. https://medicalxpress.com/news/2026-06-favorable-lifestyle-health-linked-dementia.html Fri, 05 Jun 2026 13:00:05 EDT news699881524 The human heart must constantly adapt to changing demands—a task that requires tightly coordinated molecular shuffling in heart cells. One of the key regulators of this process is RBM20, a protein that controls an editing step called "alternative splicing," which results in cells producing different forms of messenger RNA from the same gene. https://medicalxpress.com/news/2026-06-heart-elasticity-hinge-hidden-genetic.html Thu, 04 Jun 2026 17:00:01 EDT news699806281 A new statistical framework developed by researchers at the Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University School of Medicine, and Kaiser Permanente Northern California offers improved understanding of how genetics and environment contribute to autism risk. https://medicalxpress.com/news/2026-06-autism-framework-tracks-genes-maternal.html Thu, 04 Jun 2026 15:00:04 EDT news699802321 An international collaboration of genetic researchers has identified more than 90 genetic regions associated with the risk of Alzheimer's disease and related dementias. The large-scale meta-analysis reveals new biological insights into the disease, highlighting the important roles of immune processes, beta-amyloid and tau biology, and lipid metabolism. https://medicalxpress.com/news/2026-06-alzheimer-gene-loci-revealing-previously.html Thu, 04 Jun 2026 11:20:05 EDT news699787942 While E. Josie Clowney would never suggest that neuroscience is simple, a new study by her team at the University of Michigan could drastically reduce complexity in future studies. Their work focused on instinctual behaviors in fruit flies, but it has the potential to accelerate work to better understand the neurobiology that underlies behavior and decision-making in mammals, including humans. https://medicalxpress.com/news/2026-06-neuron-ground-brain-behavior.html Wed, 03 Jun 2026 19:20:02 EDT news699723961 When looking at genetic variants in a person's DNA that predispose them to disease, a new study has found having a higher number of genetic variants for increased pulse pressure is associated with a small, increased risk of dementia as a contributing cause of death. The study was published in Neurology. https://medicalxpress.com/news/2026-06-genetics-high-pulse-pressure-higher.html Wed, 03 Jun 2026 16:00:06 EDT news699703801 An international research team led by the A*STAR Genome Institute of Singapore (A*STAR GIS) has developed HERRO, an artificial intelligence (AI) tool that could make it easier and more cost-effective to produce complete, high-quality genome assemblies. https://medicalxpress.com/news/2026-06-ai-tool-scales-genome-advances.html Wed, 03 Jun 2026 15:40:03 EDT news699716941 Published in Nature, researchers at the University of Pittsburgh School of Medicine and UPMC Hillman Cancer Center report a previously unrecognized change in how the cell's genetic material is packaged into structures called chromosomes that helps explain how some aggressive cancers sustain unlimited growth. https://medicalxpress.com/news/2026-06-unexpected-chromosome-interaction-fuels-aggressive.html Wed, 03 Jun 2026 11:00:14 EDT news699608341 Scientists have created the most detailed cell map to date showing how genetic variation influences inflammatory bowel disease (IBD), revealing the specific cells and genes that drive the disease. Published in Nature, the research carried out at the Wellcome Sanger Institute, Open Targets, and Cambridge University Hospitals NHS Foundation Trust (CUH), identifies the key genetic and cellular drivers of IBD risk and demonstrates the power of single-cell approaches to understand the complex nature of human disease. https://medicalxpress.com/news/2026-06-million-cell-atlas-reveals-genes.html Wed, 03 Jun 2026 11:00:06 EDT news699637441 Millions of older adults have tiny brain hemorrhages called cerebral microbleeds, which are strongly associated with dementia, cognitive decline, and stroke. However, their precise molecular mechanisms have remained unclear, largely because of the lack of suitable animal models that isolate this condition from other confounding pathologies. A study published in the journal Brain helps fill this critical gap. https://medicalxpress.com/news/2026-06-crispr-links-faulty-collagen-brain.html Tue, 02 Jun 2026 15:00:06 EDT news699621841