https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics Results of the ongoing eNRGy trial, a single-arm, multicenter, global Phase II clinical trial evaluating zenocutuzumab in solid tumors positive for Neuregulin 1 (NRG1) gene fusions, reported manageable side effects and clinically meaningful efficacy—including a near doubling of progression-free survival compared with expectations with standard of care—in previously treated patients with advanced NRG1-positive cholangiocarcinoma. https://medicalxpress.com/news/2026-07-results-phase-ii-trial-therapy.html Wed, 01 Jul 2026 16:00:09 EDT news702120421 Researchers at the University of Kentucky Sanders-Brown Center on Aging have uncovered evidence that a single genetic variant may influence the risk of two of the diseases people fear most—dementia and cancer—but in opposite ways. https://medicalxpress.com/news/2026-07-gene-diseases-reveals-opposing-dementia.html Wed, 01 Jul 2026 12:00:08 EDT news702123901 Researchers at NYU College of Dentistry have uncovered what may be biologically driving oral health issues unique to Down syndrome. Their study, published in Cell Reports, describes a molecular mechanism—a defect in calcium signaling—behind low saliva production, along with other factors that may contribute to gum disease. https://medicalxpress.com/news/2026-06-faulty-calcium-dry-mouth-syndrome.html Wed, 01 Jul 2026 11:00:21 EDT news701970721 Scientists at the University of California San Diego have uncovered how genetic mutations cause a rare group of inherited neuromuscular disorders and identified promising new strategies to correct them, including a potential new use for an existing antidepressant. https://medicalxpress.com/news/2026-07-rare-muscle-disorder-mutations-reveal.html Wed, 01 Jul 2026 11:00:17 EDT news702120602 A toddler's activity levels are influenced by genetic differences, with some of the same genetic markers also linked to attention-deficit/hyperactivity disorder (ADHD), according to new research from the University of Surrey. In the first study of its kind, an international team of scientists, led by Professor Angelica Ronald, analyzed data from nearly 80,000 infants from multiple national and international cohort studies to discover the genetic differences that influence toddler activity levels. Genetic differences (or genetic variation) refer to the differences in DNA sequences between individuals. https://medicalxpress.com/news/2026-06-genetic-differences-affecting-toddler-adhd.html Wed, 01 Jul 2026 05:00:01 EDT news701967961 Hereditary hearing loss affects millions globally, with mutations in the SLC26A4 gene among the most common genetic triggers, particularly across Asian populations. This condition leads to severe-to-profound deafness accompanied by inner ear malformations, such as an abnormally enlarged vestibular aqueduct and endolymphatic sac. https://medicalxpress.com/news/2026-06-postnatal-gene-therapy-congenital-loss.html Tue, 30 Jun 2026 15:40:04 EDT news702052321 The dosage information for drugs used in HIV treatment, malaria, cancer care, pain management and transplantation is largely based on data from European patients and fails to include vital information about how essential drugs work in diverse African populations. A Wits-led policy brief shows that more than 10% of essential medicines may require pharmacogenomic guidance. Pharmacogenomics is the study of how a person's genetic makeup affects their body's response to medications. https://medicalxpress.com/news/2026-06-african-genetic-essential-medicines.html Tue, 30 Jun 2026 11:40:06 EDT news702036901 Scientists have discovered a rare genetic condition that causes people to age at a much faster rate, offering fresh insights into the aging process. The study shows for the first time how a "biological clock" present in every cell of the body could contribute to age-related diseases. https://medicalxpress.com/news/2026-06-rare-aging-disorder-links-biological.html Tue, 30 Jun 2026 11:20:07 EDT news702032102 Few areas of the body face more daily stress and potential damage than the stomach, which must manage everything we swallow. Along with this constant strain, the stomach also produces acid that can damage its own lining and increase the risk of ulcers. https://medicalxpress.com/news/2026-06-uncovering-gene-based-clues-disrupted.html Tue, 30 Jun 2026 11:00:06 EDT news701971442 Lung cancer remains the leading cause of cancer-related deaths worldwide and is generally thought to arise from mutations acquired over a lifetime through environmental exposures. However, clinicians are increasingly encountering patients with not just one, but multiple tumors in their lungs. https://medicalxpress.com/news/2026-06-inherited-brca2-multiple-lung-cancers.html Tue, 30 Jun 2026 10:40:04 EDT news702033008 UVA Health stroke researchers have identified a distinct and temporary pattern of gene behavior during cervical artery dissections, a leading cause of stroke in young people. These unusual gene changes may help explain the dissections and could lead to new ways to prevent potentially debilitating strokes among young people. https://medicalxpress.com/news/2026-06-gene-discovery-young-people.html Tue, 30 Jun 2026 10:00:05 EDT news702030602 New evidence supports genetic testing of prospective Black kidney donors to see if they face elevated risks for low kidney function—a factor that could compound health issues if they donate. https://medicalxpress.com/news/2026-06-genetic-black-people-donate-kidney.html Tue, 30 Jun 2026 09:20:01 EDT news702022022 Genetically predicted lower systolic blood pressure (SBP) seems to increase susceptibility to allergic rhinitis (AR), according to a study published online May 29 in Tobacco Induced Diseases. https://medicalxpress.com/news/2026-06-genetically-systolic-bp-linked-allergic.html Mon, 29 Jun 2026 19:40:06 EDT news701963124 Why does multiple sclerosis progress quickly in some people, while others remain stable for years? Researchers from the Netherlands Institute for Neuroscience have identified biological patterns in the brain that may help explain these differences. Their study shows that these patterns are linked to disease severity and are partly shaped by genetics. https://medicalxpress.com/news/2026-06-large-multiple-sclerosis-brain-cohort.html Mon, 29 Jun 2026 19:20:01 EDT news701970243 Researchers at the Icahn School of Medicine at Mount Sinai and the Lieber Institute for Brain Development have identified substantial similarities in brain gene activity among people with eating disorders and obsessive-compulsive disorder (OCD), providing new evidence that the two psychiatric disorders share an underlying biological foundation. https://medicalxpress.com/news/2026-06-disorders-obsessive-compulsive-disorder-brain.html Mon, 29 Jun 2026 14:20:06 EDT news701958361 Researchers at Niigata University have conducted the first comprehensive reappraisal in nearly 30 years of the risk of Alzheimer's disease (AD) associated with APOE-e4 homozygosity (e4*4) in the Japanese population. Their findings, published in the journal Molecular Neurodegeneration, suggest that the risk, while still substantial, is lower than estimates that have been widely cited since the 1990s. https://medicalxpress.com/news/2026-06-years-reappraisal-alzheimer-disease-japanese.html Mon, 29 Jun 2026 09:00:01 EDT news701939632 Starting one's sex life and having children at a young age can run in the family. But can pregnancy have beneficial health effects, and do the partner's genes contribute to them? "We are just beginning to understand how pregnancy affects health later in life," says Associate Professor Taru Tukiainen. https://medicalxpress.com/news/2026-06-reproduction-affects-health-biological-sex.html Sun, 28 Jun 2026 10:30:01 EDT news701440343 Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that could contribute to complex diseases, such as breast cancer, type 2 diabetes and Parkinson's disease. But those findings don't always translate to human biology. Human genetics offers a path to determining which genes among those networks are most relevant to human disease. https://medicalxpress.com/news/2026-06-tool-uncover-rare-genetic-mutations.html Fri, 26 Jun 2026 12:20:06 EDT news701684004 Research led by the University of Cambridge Loke Center for Trophoblast Research has shown that a genome-editing technique can be used to alter a single gene in human embryonic cells, enabling the study of very early human development in unparalleled detail. The study is published in the journal Nature. https://medicalxpress.com/news/2026-06-precision-human-embryo-reveals-role.html Thu, 25 Jun 2026 11:00:03 EDT news701519522 A genetic difference carried by nearly one in three people may increase the risk of severe COVID-19 and lung fibrosis by disrupting the function of a previously unknown protein, according to a new study published in Nature Communications. https://medicalxpress.com/news/2026-06-hidden-protein-linked-severe-covid.html Wed, 24 Jun 2026 17:40:07 EDT news701531983 The availability of genetic testing for amyotrophic lateral sclerosis (ALS) for people with a family member diagnosed with the disease is expected to greatly increase the number of clinic visits to specialized ALS centers over the next decade, according to a study published in Neurology Genetics. https://medicalxpress.com/news/2026-06-genetic-als-clinic-decade.html Wed, 24 Jun 2026 16:00:04 EDT news701514662 A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically reexamine stored DNA data will ensure more timely answers for hundreds of families. https://medicalxpress.com/news/2026-06-genomic-tool-highly-effective-rare.html Wed, 24 Jun 2026 15:30:01 EDT news701525979 Systemic lupus erythematosus (SLE), the most common form of lupus, is an autoimmune disorder that occurs more frequently in women. Having multiple X chromosomes has been associated with an increased risk of developing lupus; however, the reason for this link is still not fully understood and may involve how X chromosomes are regulated in female immune cells. https://medicalxpress.com/news/2026-06-silenced-chromosome-autoimmunity.html Wed, 24 Jun 2026 13:40:01 EDT news701524621 A risk model that combines a mammographic artificial intelligence (AI) risk score with polygenic and clinical risk scores more accurately identifies women at high risk of developing breast cancer than clinical risk scores used alone, finds a new Kaiser Permanente study. The study, published in the Journal of the National Cancer Institute, is one of the largest and most diverse to evaluate the ability of three approaches—mammography AI, polygenic and clinical—to predict breast cancer risk. https://medicalxpress.com/news/2026-06-ai-polygenic-scores-breast-cancer.html Tue, 23 Jun 2026 20:00:05 EDT news701443683 For many people with asthma, air-quality advisories are harbingers of worsening symptoms. But for reasons science has struggled to explain, the extent to which pollution exacerbates asthma varies widely from person to person. https://medicalxpress.com/news/2026-06-pollution-affects-asthma-patients.html Tue, 23 Jun 2026 19:30:01 EDT news701427817 Researchers from The Hospital for Sick Children (SickKids) in Toronto have found a previously unknown genetic cause of Crohn's disease and uncovered how those changes trigger inflammation through a key immune pathway. The findings, published in Gastroenterology and involving teams from eight countries, will guide more precise treatments and improve the ability to match patients to therapies based on their unique biology. https://medicalxpress.com/news/2026-06-discovery-birc3-gene-variants-crohn.html Tue, 23 Jun 2026 19:00:04 EDT news701450161 A team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S. have published a new paper on the role of TGFBR1*6A, a naturally occurring genetic mutation in the TGFBR1 gene found in approximately 14% of the general population. https://medicalxpress.com/news/2026-06-scientists-uncover-genetic-shield-lowers.html Tue, 23 Jun 2026 15:20:03 EDT news701440042 The association between parents' body mass index (BMI) and their children's childhood BMI may be primarily due to genetic inheritance rather than any direct biological effect of parental weight during pregnancy, according to a new study published in PLOS Medicine by Tom Bond of the University of Bristol in the U.K. and colleagues from the University of Queensland in Australia and elsewhere. https://medicalxpress.com/news/2026-06-link-parents-children-weight-genetic.html Tue, 23 Jun 2026 14:00:11 EDT news701343182 By analyzing genetic data from nearly 2 million people, researchers have unlocked a new scientific understanding of Ménière's disease, a chronic and often debilitating inner ear disorder. A team from the Perelman School of Medicine at the University of Pennsylvania found evidence that the condition may be linked in part to how the inner ear develops early in life—rather than being caused solely by problems that arise in adulthood, as previously thought. The findings are published in the American Journal of Human Genetics. https://medicalxpress.com/news/2026-06-mnire-disease-early-ear.html Tue, 23 Jun 2026 12:20:08 EDT news701432577 A research team from the Germans Trias i Pujol Research Institute (IGTP) has developed a new experimental model based on induced pluripotent stem cells (iPSCs) that makes it possible to reproduce in the laboratory the progression of tumors associated with neurofibromatosis type 1 (NF1), from benign forms to aggressive malignant tumors. The study, published in Nature Communications, also identifies a potential therapeutic strategy based on the combination of the drugs olaparib and selumetinib. https://medicalxpress.com/news/2026-06-lab-grown-neurofibromatosis-tumors-reveal.html Mon, 22 Jun 2026 16:00:05 EDT news701360278