https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care. https://medicalxpress.com/news/2026-09-reveals-immune-people-syndrome.html Sun, 20 Sep 2026 17:00:01 EDT news708702672 Researchers have uncovered a previously unknown gene that causes resistance to a leading blood cancer drug, as well as several genes that accelerate lymphoma growth, using a powerful new CRISPR activation library. https://medicalxpress.com/news/2026-09-gene-blood-cancer-drug-resistance.html Fri, 18 Sep 2026 14:00:04 EDT news708869221 An international team led by researchers from Harvard Medical School, Brigham and Women's Hospital, and the Max Delbrück Center for Molecular Medicine in Germany has created a detailed map of the molecular activity underlying hypertrophic cardiomyopathy (HCM), a common form of heart disease that causes the heart muscle to become thick and stiff and can lead to heart failure or sudden cardiac arrest. https://medicalxpress.com/news/2026-09-million-cell-hypertrophic-cardiomyopathy-pave.html Fri, 18 Sep 2026 11:40:06 EDT news708949981 A research team from South Korea has revealed the specific mechanisms behind the onset of psoriasis by combining large-scale genomic data from more than 1.1 million people with advanced single-cell analysis technology. The team also identified a number of genes that are potential targets for new treatments. https://medicalxpress.com/news/2026-09-big-analysis-psoriasis-genetic-code.html Thu, 17 Sep 2026 22:40:03 EDT news708868088 Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these diverse genetic changes affect the brain in entirely different ways, or do they converge on shared biological mechanisms? https://medicalxpress.com/news/2026-09-autism-mutations-reveal-opposing-patterns.html Thu, 17 Sep 2026 16:20:07 EDT news708879661 A rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene is associated with a 25-fold increased risk of lung cancer, according to a study by investigators at Dana-Farber Cancer Institute and 23andMe Research Institute. The findings included de-identified, aggregated genetic data from more than 3.3 million 23andMe research-consented participants. https://medicalxpress.com/news/2026-09-rare-inherited-egfr-mutation-linked.html Thu, 17 Sep 2026 14:00:29 EDT news708863161 Researchers have completed the largest study to date of TCF7L2-related neurodevelopmental disorder (TRND), a rare genetic condition caused by changes in the TCF7L2 gene, which plays an important role in brain development. By analyzing 76 patients from around the world in collaboration with sites across 14 countries and several U.S. cities, including Philadelphia and Boston, the team found that the most common identifying features were speech delay, autism, developmental delays, vision problems such as nearsightedness, and orthopedic issues affecting the muscles and skeleton. https://medicalxpress.com/news/2026-09-rare-newly-tcf7l2-neurodevelopmental-disorder.html Thu, 17 Sep 2026 13:20:12 EDT news708866402 Researchers at the Icahn School of Medicine at Mount Sinai and collaborators have identified candidate treatment targets and potential prognostic markers for high-grade glioma, an aggressive brain cancer, in children, adolescents and young adults. https://medicalxpress.com/news/2026-09-tumor-profiling-reveals-enzyme-candidate.html Thu, 17 Sep 2026 11:00:15 EDT news708794762 A study reveals that your genes may make you more vulnerable to post-traumatic stress disorder (PTSD) from certain types of trauma—particularly childhood neglect—than from others. https://medicalxpress.com/news/2026-09-genetic-ptsd-vary-trauma-experienced.html Wed, 16 Sep 2026 19:00:05 EDT news708696781 A new discovery by neuroscientists at Brown University's Carney Institute for Brain Science challenges long-held beliefs in neurobiology about how neurons extend axons to reach their targets. https://medicalxpress.com/news/2026-09-neuron-cell-bodies-gene-axons.html Tue, 15 Sep 2026 16:40:04 EDT news708702707 Research from Adelaide continues to play a major role in changing the world's understanding of cerebral palsy, tracing its causes back to genetics and reducing costly litigation against obstetricians. Leading Adelaide University cerebral palsy researcher Emeritus Professor Alastair MacLennan AO has spent decades investigating genetic causes of the condition. He said the long-standing belief that oxygen deprivation or trauma at birth is responsible for cerebral palsy has cost specialists and their patients. https://medicalxpress.com/news/2026-09-myth-science-cerebral-palsy.html Tue, 15 Sep 2026 08:00:05 EDT news708672361 Scientists have long believed that large stretches of our genetic material, known as long noncoding RNAs (lncRNAs), help regulate genes but do not produce proteins. A new study by Stav Zok and Professor Michal Linial from the Hebrew University of Jerusalem suggests that this picture is incomplete. https://medicalxpress.com/news/2026-09-hidden-proteins-coding-rna-clues.html Mon, 14 Sep 2026 17:20:04 EDT news708621653 A new study has identified FMN1 as a gene required for hearing in both humans and mice, revealing a previously unknown role for formin-1 in maintaining the microscopic cellular architecture of the inner ear. The findings also point to a connection between FMN1 and pigmentation through a molecular complex involved in melanosome transport, providing new insight into how disruption of a single gene can lead to both hearing loss and alterations in hair and skin pigment. https://medicalxpress.com/news/2026-09-fmn1-gene-essential-reveals.html Mon, 14 Sep 2026 17:00:08 EDT news708618481 A new study has revealed why some people with Huntington's disease develop symptoms 10–12 years earlier and experience a more aggressive form of the disease. https://medicalxpress.com/news/2026-09-scientists-uncover-huntington-disease-patients.html Mon, 14 Sep 2026 14:20:04 EDT news708607502 Lysosomal disorders can have devastating effects on patients but findings from a University of Sheffield-led collaborative study could support more precise diagnosis and help researchers identify shared targets for future treatments. The scientists have brought together the most comprehensive picture yet of rare metabolic disorders, identifying 108 conditions—almost double those originally understood to exist—bringing new hope for early diagnosis and new treatments. https://medicalxpress.com/news/2026-09-framework-lysosomal-disorders-conditions.html Mon, 14 Sep 2026 13:20:08 EDT news708601052 Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes. https://medicalxpress.com/news/2026-09-pharmacogenomics-genes-doctors-medicine-dose.html Mon, 14 Sep 2026 09:20:01 EDT news708593942 Treating inherited diseases is one of the greatest challenges in modern medicine. In the future, targeted gene corrections at the earliest stages of embryonic development could help prevent certain inherited diseases from developing and being passed on to future generations. However, the safety of such approaches depends on how human embryos repair the DNA damage caused during gene editing and on the limitations of available technologies. These questions are addressed in a study published in the journal Nature, led by first author Štěpán Jeřábek, who is affiliated with both Columbia University and IOCB Prague. The research also involved two other IOCB Prague scientists, Iva Pichová and Michal Doležal. https://medicalxpress.com/news/2026-09-dna-early-human-embryos-implications.html Sat, 12 Sep 2026 17:00:05 EDT news708232065 Schizophrenia, height, cholesterol. Each has its own genetic signature. That signature is made up of genetic variants: small differences in the DNA sequence that make one person's genome differ from another's. Some traits, such as the amount of cholesterol in the blood, are shaped by relatively few genetic variants. Other traits, such as schizophrenia, are shaped by many thousands of them, each contributing almost nothing on its own. Geneticists call this polygenicity. https://medicalxpress.com/news/2026-09-genetic-reveals-complex-traits-heritability.html Fri, 11 Sep 2026 17:40:01 EDT news708346778 Columbia University researchers have identified a way to help predict when people at high risk of developing Alzheimer's are likely to develop their first symptoms, a finding that could help physicians decide when to prescribe preventive treatments currently in development. https://medicalxpress.com/news/2026-09-blood-gene-alzheimer-symptoms-years.html Fri, 11 Sep 2026 15:40:01 EDT news708353140 Hair-like appendages called motile cilia beat in synchrony on cells in many parts of the body to keep fluids and particles moving, such as clearing mucus in the lungs so it can be coughed out. https://medicalxpress.com/news/2026-09-newly-implicated-genes-reveal-patients.html Fri, 11 Sep 2026 13:20:08 EDT news708345002 Researchers have taken an important step toward solving one of the biggest challenges in gene therapy for children with metabolic liver disorders: growth itself. As a child's liver grows, some gene therapies that once worked can gradually lose their effect because the treated cells are eventually outnumbered by new, untreated ones. https://medicalxpress.com/news/2026-09-gene-advance-treatment-rare-liver.html Fri, 11 Sep 2026 12:20:09 EDT news708340202 Why do genetic variants that increase the risk of autoimmune disease remain so common in the population? https://medicalxpress.com/news/2026-09-antiviral-defense-gained-autoimmunity.html Fri, 11 Sep 2026 12:20:01 EDT news708343982 A brain contains hundreds or thousands of different kinds of neurons, each with its own shape, connections and function. Yet all of them arise from a comparatively small pool of dividing neural stem cells. How does a newly-born cell know what kind of neuron to become? https://medicalxpress.com/news/2026-09-brain-atlas-neurons-dont-inherit.html Fri, 11 Sep 2026 12:00:07 EDT news708339781 Alzheimer's disease is one of the most feared diagnoses among older adults, particularly for those who know they carry a high-risk gene that magnifies their odds. But even many people with this gene—APOE ε4—dodge the disease and stay mentally sharp into their 80s. https://medicalxpress.com/news/2026-09-brain-blood-vessels-key-alzheimer.html Fri, 11 Sep 2026 10:20:14 EDT news708338701 An international team of researchers led by the University Hospital and University of Bonn, as well as the universities of Edinburgh, Basel and Pennsylvania, has identified a previously unrecognized form of inherited retinal degeneration caused by a specific variant in the EFEMP1 gene. The disease primarily affects the peripheral retina and the rod photoreceptors responsible for vision in dim light and darkness. Importantly, rod function may already be severely impaired while the retina still appears largely normal on clinical examination. The study results have now been published in the journal JAMA Ophthalmology. https://medicalxpress.com/news/2026-09-rare-variant-reveals-hereditary-retinal.html Thu, 10 Sep 2026 16:40:01 EDT news708274682 Cells have all kinds of intricate machinery to control genes, switching them on and off at the right times and under the right conditions. Components of this machinery include chromatin-modifying complexes, groups of proteins that manage how tightly DNA is packaged in the nucleus and control how accessible it is for transcription. https://medicalxpress.com/news/2026-09-rna-destruct-cellular-machinery-linked.html Thu, 10 Sep 2026 12:20:04 EDT news708258601 A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in the MC1R gene as markers of faster motor decline in people with Parkinson's disease (PD). The findings, published in JAMA Neurology, suggest that MC1R could help identify a large subgroup of patients at risk for more rapid disease progression and open a new avenue for drug development. https://medicalxpress.com/news/2026-09-common-genetic-marker-faster-parkinson.html Wed, 09 Sep 2026 19:40:01 EDT news708193561 A new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person's risk of coronary artery disease (CAD), suggesting targets for prevention and treatment. The findings are published in Science Translational Medicine. https://medicalxpress.com/news/2026-09-spleen-scans-reveal-genetic-clues.html Wed, 09 Sep 2026 14:00:10 EDT news708168721 Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping to identify diagnoses and potential new disease-causing genes that genome sequencing alone has been unable to resolve. https://medicalxpress.com/news/2026-09-blood-protein-analysis-rare-diseases.html Wed, 09 Sep 2026 14:00:06 EDT news708178647 Prostate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while it progresses aggressively in others. https://medicalxpress.com/news/2026-09-dna-signatures-reveal-prostate-cancers.html Wed, 09 Sep 2026 11:00:20 EDT news708169081