https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations in the sodium voltage-gated channel alpha subunit (SCN2A) gene, which controls the flow of sodium ions into neurons. These mutations promote abnormal brain excitability, resulting in uncontrolled seizures along with developmental delays, autism, movement problems and gastrointestinal issues. Most of these mutations are de novo (not inherited from a parent) and arise spontaneously. https://medicalxpress.com/news/2026-07-personalized-gene-therapy-teen-rare.html Tue, 21 Jul 2026 13:20:03 EDT news703855802 Scientists have found that the "sudden" cardiac death condition related to high-profile deaths or major medical episodes of sports stars including Fabrice Muamba, Christian Erikson and Mark-Vivian Foe, has numerous linked gene variations that highlight a potentially treatable vulnerability. https://medicalxpress.com/news/2026-07-sudden-cardiac-death-condition-shown.html Tue, 21 Jul 2026 05:00:04 EDT news703748636 An international team led by the Central Institute of Mental Health in Mannheim has presented the largest genome-wide association study on borderline personality disorder to date. Data from about 13,000 affected people and more than 1.1 million controls from 14 countries were analyzed. The study identified 11 independent risk regions and nine genes that could contribute to the development of the disorder. The findings, published in Nature Genetics, show clear genetic overlaps with other mental and physical illnesses and open new perspectives for research and care. https://medicalxpress.com/news/2026-07-largest-genetic-analysis-borderline-personality.html Mon, 20 Jul 2026 14:20:07 EDT news703774454 The single-cell "atlases" that are increasingly used to map the human body and as training data for artificial intelligence models may not represent the world's populations fairly, according to a study led by researchers at the Icahn School of Medicine at Mount Sinai. The analysis found that people of European ancestry were consistently overrepresented, while Asian and Latino individuals were underrepresented, and a large share of samples lacked any record of ancestry. The findings were published July 20 in Cell Genomics. https://medicalxpress.com/news/2026-07-cell-atlases-human-body-global.html Mon, 20 Jul 2026 11:00:09 EDT news703758121 People with Lynch syndrome, the most common hereditary predisposition to colorectal cancer, face a markedly increased cancer risk and therefore undergo regular colonoscopies. Researchers from the University Hospital Bonn (UKB), the University of Bonn, the University of Leipzig, and Amsterdam UMC investigated whether artificial intelligence improves the detection of precancerous lesions. Their findings show that, in specialized centers, AI provided no significant additional benefit. The study was published in The Lancet Gastroenterology & Hepatology. https://medicalxpress.com/news/2026-07-ai-automatically-colorectal-cancer-screening.html Sun, 19 Jul 2026 13:00:01 EDT news703497222 Loss of one copy of the DNA ligase I (LIG1) gene in triple-negative breast cancers (TNBC) with TP53 mutations confers resistance to chemotherapy, but researchers at Baylor College of Medicine and collaborating institutions have identified a vulnerability in these cells and used it to their advantage. The team identified underlying molecular mechanisms of platinum resistance that they neutralized with combinations of available drugs to reduce tumor growth in animal models. This work also highlights LIG1 status as a patient stratification factor for ongoing and future clinical trials. The study appeared in Molecular Cancer Therapeutics. https://medicalxpress.com/news/2026-07-lig1-loss-exposes-therapeutic-vulnerability.html Fri, 17 Jul 2026 20:40:01 EDT news703497982 An international research team led by Dr. Frank Bosmans (Vrije Universiteit Brussel) has discovered a major genetic cause of hyperhidrosis (chronic and excessive sweating). The study, published in Science Advances, provides strong evidence that a genetically determined form of hyperhidrosis arises from overstimulation of the nerves that control the sweat glands. The discovery removes the stigma surrounding the condition and paves the way for targeted treatments using existing medicines. https://medicalxpress.com/news/2026-07-genetic-redefines-excessive-treatable-neurological.html Fri, 17 Jul 2026 14:00:05 EDT news703402977 A study by the University of Barcelona has identified nearly 20 genes that could contribute to some people being more susceptible to depression, anxiety and traits such as irritability and neuroticism. These genes are regulated by the RBFOX1 gene, which acts as the central hub of a genetic network linked to several key processes in brain function. According to the researchers, this genetic overlap between different disorders and traits could help explain why they often appear together in the same person. https://medicalxpress.com/news/2026-07-genes-people-susceptible-depression-psychiatric.html Fri, 17 Jul 2026 10:40:06 EDT news703497095 Sarah Urbut, MD, Ph.D., of the Mass General Brigham Heart and Vascular Institute, is the lead author of a paper published in Nature, "A Bayesian framework for longitudinal EHR and genetic discovery." Pradeep Natarajan, MD, MMSc, also of the Heart and Vascular Institute, is one of the co-senior authors, along with collaborators at Harvard Medical School, Harvard T.H. Chan School of Public Health, the Broad Institute of MIT and Harvard, and Dana-Farber Cancer Institute. https://medicalxpress.com/news/2026-07-qa-reveals-hidden-disease-signatures.html Fri, 17 Jul 2026 10:20:03 EDT news703499140 Scientists at Children's Medical Center Research Institute at UT Southwestern (CRI) have discovered why babies born with a rare inborn error of metabolism called GPT2 deficiency suffer from severe neurological impairment. Using their newly developed biosensor to track the essential metabolite alpha-ketoglutarate (αKG), researchers found that the mitochondrial enzyme GPT2 and transporter protein SLC25A11 work together to control the production and transport of αKG from the mitochondria to the nucleus. https://medicalxpress.com/news/2026-07-metabolite-rare-childhood-brain-disorder.html Fri, 17 Jul 2026 10:00:01 EDT news703496892 Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50% of individuals with the condition. https://medicalxpress.com/news/2026-07-uncover-pathway-epilepsy.html Fri, 17 Jul 2026 09:20:08 EDT news703496739 Parkinson's disease is the second most common neurodegenerative disease worldwide after Alzheimer's disease and, according to the World Health Organization, one of the fastest-growing neurological disorders. Yet genetic research into the disease has so far relied almost exclusively on people of European ancestry. This is a problem because the genetic causes of the disease depend strongly on a person's ancestry. https://medicalxpress.com/news/2026-07-global-parkinson-gene-uncovers-regional.html Thu, 16 Jul 2026 12:20:05 EDT news703420024 "I think you always believe it's never going to happen to me." That is how one parent described learning that their newborn baby had been identified as being at possible risk of a rare genetic condition through routine newborn screening. https://medicalxpress.com/news/2026-07-newborn-screening-communication.html Wed, 15 Jul 2026 19:40:03 EDT news703345943 A gene therapy designed to replace the missing protein that causes fragile X syndrome restored several disease-relevant traits in a mouse model, according to a new study published in Gene Therapy. https://medicalxpress.com/news/2026-07-gene-therapy-key-fragile-traits.html Wed, 15 Jul 2026 13:20:09 EDT news703329147 Men and women are not born with the same risk of heart disease, and for decades scientists have struggled to explain why. A new study from the University of North Carolina at Chapel Hill, published in Genes & Development, offers an answer: The female heart depends on a molecular safeguard that the male heart can largely do without—and when that safeguard is removed, female hearts fail while male hearts keep beating. https://medicalxpress.com/news/2026-07-genetic-safeguard-female-heart-lost.html Tue, 14 Jul 2026 19:00:09 EDT news703254841 A new study led by experts at the University of Nottingham suggests a pet gecko with an unusually high risk of tumors may be a promising model for understanding how cancer develops and spreads. The findings of the study, which are published in BMC Biology, could help explain why some animals frequently get cancer and others rarely do. https://medicalxpress.com/news/2026-07-scientists-uncover-genetic-clues-tumor.html Tue, 14 Jul 2026 19:00:04 EDT news703229455 Some people inherit genetic changes that put them at higher risk of developing certain cancers or heart disease. A simple genetic test can identify those risks early, creating opportunities to prevent disease or detect it sooner—but only if it reaches the people who could benefit. https://medicalxpress.com/news/2026-07-populationwide-dna-screening-genetic-major.html Mon, 13 Jul 2026 11:00:06 EDT news702890222 Does informing people about their genetic risk of obesity help them change their habits and lose excess weight? A study published in the journal Obesity Reviews by scientists, including researchers from SWPS University, shows that knowledge about one's genes alone is not enough. Effective behavioral change requires long-term, personalized support. https://medicalxpress.com/news/2026-07-knowledge-genes-isnt-people-genetic.html Mon, 13 Jul 2026 09:20:06 EDT news703148871 Most women are aware that fertility declines dramatically with age. This is mainly due to the gradual loss of eggs and follicles from the ovaries, leading to infertility, irregular cycles and ultimately menopause. https://medicalxpress.com/news/2026-07-gene-discovery-infertility-early-menopause.html Sun, 12 Jul 2026 20:30:01 EDT news702809186 The epigenetic modifier MLL4 has an unassuming name—the 4, for instance, indicates it's just one in a family of such modifiers. But MLL4 is quite special: In a specific type of leukemia, it drives disease progression, while in solid tumors, it acts as a suppressor. https://medicalxpress.com/news/2026-07-unusual-epigenetic-cancers-suppresses.html Fri, 10 Jul 2026 13:40:04 EDT news702907984 Rare DNA changes are most strongly linked to cognition in early childhood, but the link fades as children age, while common DNA changes show stronger links later in childhood, a new study finds. The research was reported July 10 in Nature Human Behaviour by researchers at the Wellcome Sanger Institute, who analyzed data from U.K. birth cohorts to investigate how genetic makeup affects cognitive ability across early life. https://medicalxpress.com/news/2026-07-links-genetics-cognition-childhood.html Fri, 10 Jul 2026 10:50:01 EDT news702896207 In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel cells play in bone health. https://medicalxpress.com/news/2026-07-genetic-bone-diseases.html Fri, 10 Jul 2026 09:00:01 EDT news702889621 New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it far more common than previous estimates suggested. https://medicalxpress.com/news/2026-07-autism-phelan-mcdermid-syndrome-affect.html Fri, 10 Jul 2026 07:40:01 EDT news702882302 Rat disease models have played an integral role in scientific discovery and cancer research, including Nobel Prize–winning work from Charles Huggins on hormone therapy for prostate cancer in 1966. However, technical challenges in genetic engineering of rat models have limited their use in research, and over the decades, mouse models have become much more widely used. https://medicalxpress.com/news/2026-07-genome-rats-enables-accurate-estrogen.html Thu, 09 Jul 2026 16:20:09 EDT news702831123 Researchers at the University of British Columbia have identified a new form of hereditary prostate cancer that, while rare, can cause aggressive disease at a young age. The discovery paves the way for genetic testing programs that could help identify at-risk families and support early cancer detection. https://medicalxpress.com/news/2026-07-hereditary-prostate-cancer.html Thu, 09 Jul 2026 15:20:05 EDT news702816841 Irritable bowel syndrome (IBS) is a common condition that affects more than 10% of the general population, causing recurrent abdominal pain, bloating, constipation and diarrhea. IBS is considered a disorder of gut-brain interaction, and previous research, including genetic research, has established links to nerve signaling, the nervous system and other conditions including anxiety and mood disorders. The exact biological mechanisms, however, have remained frustratingly difficult to pin down, leaving many patients without effective, targeted treatments. https://medicalxpress.com/news/2026-07-genetic-links-ibs-lipid-metabolism.html Thu, 09 Jul 2026 09:00:01 EDT news702712300 Hereditary primary hemochromatosis is caused by a single faulty building block in a gene. This leads to iron overload, which can have serious consequences for organs and joints. In preclinical studies, researchers have already successfully treated this genetic defect using a targeted correction technique known as base editing. They have now further refined their method in the laboratory. https://medicalxpress.com/news/2026-07-approach-gene-iron-storage-disease.html Wed, 08 Jul 2026 22:40:01 EDT news702724572 Genespire, in collaboration with researchers at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), announced the publication of preclinical data supporting the potential of its liver-directed immune-shielded lentiviral gene therapy approach to treat methylmalonic acidemia (MMA), a severe inherited metabolic disorder. https://medicalxpress.com/news/2026-07-liver-gene-therapy-preclinical-efficacy.html Wed, 08 Jul 2026 21:40:01 EDT news702724348 Early detection and treatment of congenital cerebral ventriculomegaly (CCV)—when a fetus's fluid-filled brain ventricles swell due to a condition called hydrocephalus—can help clinicians prevent developmental or neurological disabilities in affected infants. New research led by investigators at Mass General Brigham Neuroscience Institute has identified some of the gene mutations involved in this condition, which is often seen alongside autism and other developmental disorders. https://medicalxpress.com/news/2026-07-genetic-insights-fluid-brain-condition.html Wed, 08 Jul 2026 14:00:07 EDT news702704472 Researchers have solved a long-standing mystery of how abnormal chromosomes drive cancer, identifying 81 new genes involved in aggressive breast cancer. The discovery expands understanding of the cellular processes behind the disease and opens new avenues for treatment. https://medicalxpress.com/news/2026-07-longstanding-mystery-deadliest-breast-cancer.html Wed, 08 Jul 2026 11:00:03 EDT news702625905