https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics A research team at the Brain Research Institute, Niigata University has found that APOE ε4, a genetic factor best known for increasing the risk of Alzheimer's disease, may also influence how pathological changes spread in amyotrophic lateral sclerosis (ALS). The findings were published in Acta Neuropathologica. https://medicalxpress.com/news/2026-05-als-pathology-differently-patients.html Wed, 20 May 2026 17:40:01 EDT news698506322 Researchers at King's College London have identified the biological nature and timing of changes in human cortical neurons caused by altering activity of a schizophrenia-associated gene in developing human neurons. This discovery links a genetic risk factor to cellular changes in neurons; an essential step for understanding the neurobiology of this mental illness and developing future treatments. https://medicalxpress.com/news/2026-05-schizophrenia-gene-reshape-neurons.html Wed, 20 May 2026 14:00:02 EDT news698501641 Autism spectrum disorder affects males far more frequently than females, with diagnoses occurring roughly four times more often in boys. Scientists have long suspected that females may possess biological protective mechanisms that reduce vulnerability to autism, but direct experimental evidence has remained limited. https://medicalxpress.com/news/2026-05-strong-genetic-mutation-overrides-female.html Wed, 20 May 2026 10:20:09 EDT news698490242 DZNE researchers have generated new insights into how the human genome shapes the chemical composition and concentration of blood lipids. Across the genome, they identified more than 50 regions whose relevance to lipid metabolism has not been known before. The findings are based on blood samples from more than 8,000 individuals and may provide a better understanding of aging processes and pathological conditions like Alzheimer's disease, diabetes, and cardiovascular dysfunctions. https://medicalxpress.com/news/2026-05-genetics-blood-lipids-unprecedented-precision.html Tue, 19 May 2026 18:20:04 EDT news698428621 Researchers at McGill University have discovered a centuries-old genetic mutation that helps to explain why some French‑Canadians in Quebec are at an elevated risk of pancreatic cancer. Until quite recently, standard genetic tests have not been able to identify this "jumping gene" cause. https://medicalxpress.com/news/2026-05-gene-elevated-pancreatic-cancer-french.html Tue, 19 May 2026 13:20:05 EDT news698408341 The causes of male infertility can be hard to diagnose, with many tests failing to detect genetic defects. Sometimes, infertility doesn't even involve the genes themselves. It can arise from improper folding of the father's DNA in the sperm. If a couple conceives, this mispackaged DNA can damage the lifelong health of the child. https://medicalxpress.com/news/2026-05-dna-protein-insight-infertility-ivf.html Tue, 19 May 2026 12:00:03 EDT news698409961 A study led by Dr. Jason Pitt, Principal Investigator at the Cancer Science Institute of Singapore (CSI Singapore), has identified eight new "signatures" of DNA patterns (gains and/or losses) in breast cancer. By analyzing nearly 2,800 genomes, the team systematically profiled changes in the number of DNA copies in breast cancer, with the goal of better understanding the underlying mechanisms of tumor development and evaluating how these structural genomic changes relate to clinical outcomes. https://medicalxpress.com/news/2026-05-access-tool-decodes-dna-patterns.html Mon, 18 May 2026 13:20:01 EDT news698328661 UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly one in 2,000 boys. https://medicalxpress.com/news/2026-05-drug-fragile-syndrome.html Mon, 18 May 2026 11:00:03 EDT news698069641 Researchers at WashU Medicine and collaborating institutions have developed a novel computational tool that can accurately identify a genetic problem in a gene called RFC1 that is linked to certain forms of peripheral neuropathy. Peripheral neuropathy is one of the most common neurological disorders and can cause pain, sensory loss, imbalance and weakness. It affects 12%–20% of all people in the U.S. and can affect up to 30% of adults over age 65. The new research is published in the Annals of Neurology. https://medicalxpress.com/news/2026-05-machine-reveals-common-genetic-unexplained.html Mon, 18 May 2026 08:20:03 EDT news698309969 For families of children born with alternating hemiplegia of childhood, the questions begin almost immediately: Will it get worse? How long do we have? What should we prepare for? The clearest answers yet are emerging and changing how doctors and families understand the course of a rare neurological disorder. https://medicalxpress.com/news/2026-05-alternating-hemiplegia-childhood-rare-disorder.html Sun, 17 May 2026 17:00:05 EDT news697732607 People who carry the APOE2 version of the apolipoprotein E gene are more likely to live to advanced age and are partly protected against Alzheimer's disease, but scientists have struggled to explain why. A new study from the Buck Institute for Research on Aging, now published in Aging Cell, offers a mechanistic answer: APOE2 helps human neurons keep their DNA intact and resist becoming senescent, a damaged, dysfunctional state that accumulates with age and contributes to neurodegeneration. https://medicalxpress.com/news/2026-05-longevity-linked-apoe2-gene-variant.html Sun, 17 May 2026 15:00:01 EDT news697733919 Researchers at UCLA Health have identified a key gene that may help explain why women are more likely than men to develop a certain type of artery plaque linked to heart disease. https://medicalxpress.com/news/2026-05-myh9-gene-heart-artery-plaques.html Fri, 15 May 2026 12:20:01 EDT news698062441 Backed by new research findings, researchers at the UNC School of Medicine have developed a new reporting system that will allow researchers across the United States to confirm the genetic accuracy of their mouse models. https://medicalxpress.com/news/2026-05-aims-accuracy-rigor-mouse-widespread.html Fri, 15 May 2026 12:00:01 EDT news698062081 Researchers have introduced a novel diagnostics method that can more sensitively detect gene fusions in B-cell acute lymphoblastic leukemia (B-ALL), the most common type of pediatric cancer, compared to other publicly available fusion detection algorithms. The tool, detailed in an article published in The Journal of Molecular Diagnostics, enables a higher diagnostic yield from low-coverage, low-cost sequencing. https://medicalxpress.com/news/2026-05-tool-enables-high-precision-pediatric.html Thu, 14 May 2026 17:00:01 EDT news697972128 How complex neural circuits are genetically designed and wired is a fundamental question in neuroscience. Scientists have shown for the first time that genes encode a "wiring map" that guides neurons to connect with the correct brain regions. The findings, based on machine learning analysis of mouse brain data, were published in the Proceedings of the National Academy of Sciences, and offer new avenues for research into brain development and disease. https://medicalxpress.com/news/2026-05-genes-neurons-gps-brain-neural.html Thu, 14 May 2026 16:31:26 EDT news697995061 When Mayo Clinic researchers sequenced the genomes of 484 seemingly healthy adults, they found that about 13% carried a serious, previously unrecognized genetic risk—conditions those patients did not know about and that standard care would likely miss. https://medicalxpress.com/news/2026-05-adults-hidden-genetic-reveals.html Thu, 14 May 2026 12:41:51 EDT news697981262 A new study has uncovered a genetic cause that may explain why some people develop Kaposi sarcoma despite having no apparent immune deficiency. The rare cancer, which forms in the cells lining blood vessels, is caused by human herpesvirus 8 (HHV-8), also known as Kaposi sarcoma–associated herpesvirus. https://medicalxpress.com/news/2026-05-hidden-genetic-defect-linked-kaposi.html Thu, 14 May 2026 12:00:01 EDT news697977420 Increasing bone density in patients with a rare genetic condition that causes bones to break easily does not prevent fractures, a large clinical trial has found. Patients with brittle bone disease who were given treatments to boost their bone density experienced a similar number of fractures as those who received standard care. https://medicalxpress.com/news/2026-05-drug-trial-treatment-shift-brittle.html Thu, 14 May 2026 11:00:05 EDT news697909321 Researchers at the Stanford School of Medicine have found that ethnicity and geography may influence human molecular makeup—from metabolism and immunity to gut microbiota and biological aging. The findings, published in Cell, illuminate the complex interplay between genetics and the environment, providing insights for researchers and clinicians seeking to better understand health care for diverse populations. https://medicalxpress.com/news/2026-05-ancestry-gut-aging-ways-medicine.html Thu, 14 May 2026 11:00:01 EDT news697887362 Physicians may one day be able to identify which patients with peripheral artery disease are most likely to develop complications and intervene earlier, thanks to a Northeastern University discovery. Peripheral artery disease is a common condition in which arteries found in the legs, arms and pelvis are partially or completely obstructed as a result of plaque buildup. https://medicalxpress.com/news/2026-05-genetic-patients-amputations.html Thu, 14 May 2026 08:52:01 EDT news697967461 In a world first, a research team at the University of Zurich has successfully treated mice carrying an inherited form of epilepsy. The scientists used gene editing to fix faulty DNA directly in the brain cells of mice, which reduced fever-induced seizures and markedly improved survival rates in an animal model. This approach paves the way for future treatment of inherited epilepsy rather than just managing its symptoms. The work is published in the journal Science Translational Medicine. https://medicalxpress.com/news/2026-05-successfully-hereditary-epilepsy-mouse.html Wed, 13 May 2026 16:20:04 EDT news697904281 Research has found that children with higher genetic susceptibility to schizophrenia show decreases in frontal cortical surface area during early adolescence, in contrast to the regional expansion observed in children with low genetic susceptibility. This suggests that individuals with high genetic liability for schizophrenia may already show deviations in their neurodevelopmental trajectories before symptoms typically appear in young adulthood. The findings from the new study in Biological Psychiatry, published by Elsevier, provide critical insights for refining developmental models of schizophrenia and for informing the timing of preventive interventions. https://medicalxpress.com/news/2026-05-genetic-schizophrenia-manifests-early-adolescence.html Wed, 13 May 2026 15:40:10 EDT news697903876 New research from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London has highlighted the distinct and shared molecular pathways linking cannabis use disorder (CUD) and psychosis, offering the potential for identifying those at risk, as well as targeted interventions for cannabis-related psychosis. https://medicalxpress.com/news/2026-05-genetic-link-cannabis-psychosis.html Wed, 13 May 2026 15:06:14 EDT news697903502 Researchers at The University of Texas MD Anderson Cancer Center have characterized cancer cell-specific features in the tumor microenvironment (TME) of early-stage triple-negative breast cancer (TNBC) tissues, identifying specific macrophage subtypes associated with chemotherapy response. https://medicalxpress.com/news/2026-05-gene-panel-response-chemotherapy-triple.html Wed, 13 May 2026 11:00:32 EDT news697887061 A long-overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviors that define autism spectrum disorder (ASD), without affecting learning or other cognitive abilities, according to a study published in Nature. https://medicalxpress.com/news/2026-05-coding-gene-linked-core-social.html Wed, 13 May 2026 11:00:26 EDT news697823101 Researchers from the Center of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI-PGx) have published a new prescribing guideline aimed at reducing the incidence of serious allergic reactions to common anti-seizure medications. The new guideline, published in the British Journal of Clinical Pharmacology, provides advice on HLA genotype testing for carbamazepine, oxcarbazepine and eslicarbazepine. https://medicalxpress.com/news/2026-05-guideline-aims-severe-allergic-reactions.html Wed, 13 May 2026 09:16:48 EDT news697882562 Why do two people with the same cancer diagnosis—the same stage, the same cell type, and the same clinical profile—often have completely different outcomes? For decades, scientists have studied acquired mutations in cancer to find answers, but mutations alone explain only part of the story. Now, a study published in Genome Medicine helps answer that question, uncovering that every cancer is shaped by a unique combination of inherited and acquired disruptions across biological pathways. https://medicalxpress.com/news/2026-05-cancer-genetic-fingerprints-tumors.html Wed, 13 May 2026 07:41:41 EDT news697876862 A study, led by experts at the University of Nottingham, has found that persistent and distressing upper gut symptoms experienced by people with hypermobile Ehlers-Danlos syndrome (hEDS), are not due to structural problems with the gullet (esophagus), as previously assumed. https://medicalxpress.com/news/2026-05-gut-problems-people-genetic-disorder.html Wed, 13 May 2026 07:00:01 EDT news697868821 Chromosomes carry genetic information for biological sex, which generally assigns women two X chromosomes and men XY chromosomes. This is a basic principle of human genetics most are taught in grade school biology, but it is little known that with aging, men can lose the Y chromosome, and women can lose one of their X chromosomes. https://medicalxpress.com/news/2026-05-loss-chromosome-chance-natural-pregnancy.html Tue, 12 May 2026 23:40:02 EDT news697797840 While much is mysterious about the aging process, change over time remains its cornerstone. The biological shifts that accompany aging seemingly occur in many cells in the body. The problem is, we have tens of billions of cells, and what the changes may be in most of those cells remains unknown, in part due to traditional technical limitations. https://medicalxpress.com/news/2026-05-genomic-approaches-uncover-cellular-dynamics.html Tue, 12 May 2026 15:40:02 EDT news697815181