https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern Medicine study published in the Proceedings of the National Academy of Sciences. https://medicalxpress.com/news/2026-08-protein-synthesis-regions-seizures-genetic.html Mon, 31 Aug 2026 09:20:01 EDT news707386537 The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he couldn't find any good published information on bat genomes to provide clues. Once he became a UC Berkeley postdoctoral fellow in 2020, however, he unleashed his passion and began scouring the Western U.S. for bat species that could provide tissue samples and DNA to sequence. https://medicalxpress.com/news/2026-08-clues-longevity-reside-genomes.html Sun, 30 Aug 2026 12:00:01 EDT news707022111 When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant brain tumors in children could be treated in the future. Their research is published in the journal Cancer Gene Therapy. https://medicalxpress.com/news/2026-08-unexpected-discovery-reveals-mechanism-brain.html Thu, 27 Aug 2026 15:00:03 EDT news707059621 Brain diseases, including dementia, have long been studied using experimental animals such as mice. However, differences between the human and animal genomes have raised concerns that some disease mechanisms may not be fully explained by conventional animal models. https://medicalxpress.com/news/2026-08-primate-specific-dna-reveals-link.html Thu, 27 Aug 2026 14:20:01 EDT news707055242 Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach with the potential to treat a wide range of genetic diseases that share certain disease-causing mutations. The work advances an emerging platform in genetic medicine centered on transfer RNA, or tRNA. The team engineered tRNA to help cells read through premature stop signals and complete production of full-length proteins that would otherwise be truncated or absent. https://medicalxpress.com/news/2026-08-generation-rna-approach-genetic-diseases.html Thu, 27 Aug 2026 14:00:06 EDT news707045041 For more than two decades, researchers have identified hundreds of genes that increase the risk of autism spectrum disorder (ASD). Yet multiple fundamental questions have remained unanswered: Among them, how do mutations in these genes lead directly to changes in brain development, and how can that knowledge be translated into more effective therapies? https://medicalxpress.com/news/2026-08-largest-molecular-autism-paths-precision.html Thu, 27 Aug 2026 14:00:01 EDT news707050754 Late-onset Alzheimer's disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, often beginning with subtle cognitive changes before progressing to overt dementia. Although the rate of decline varies among individuals, growing evidence suggests that genetic factors play a central role in shaping both the onset and trajectory of cognitive deterioration. https://medicalxpress.com/news/2026-08-accurate-alzheimer-disease-nonwhite-patients.html Thu, 27 Aug 2026 05:00:01 EDT news706881062 Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly according to a patient's treatment history, even though their clinical course can vary considerably from one person to another. https://medicalxpress.com/news/2026-08-inherited-genetic-variants-patients-higher.html Wed, 26 Aug 2026 16:20:01 EDT news706966999 Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published today in JAMA Network Open. https://medicalxpress.com/news/2026-08-children-centenarians-longer-cardiovascular-analysis.html Wed, 26 Aug 2026 15:40:01 EDT news706974721 A new study by researchers at the Perelman School of Medicine at the University of Pennsylvania reveals that the three-dimensional folding of DNA at a key genetic locus helps determine when two related immune genes, Ets1 and Fli1, are switched on in T cells. https://medicalxpress.com/news/2026-08-dna-immune-gene-cells.html Wed, 26 Aug 2026 07:20:03 EDT news706939202 A study of more than 2,000 people in the United States and China finds that the line between medical and nonmedical traits, which underpins rules on embryo testing in most countries, does not match public preferences. https://medicalxpress.com/news/2026-08-people-embryos-traits-iq.html Wed, 26 Aug 2026 05:00:07 EDT news706872121 Experts at the University of Sydney have found that a gene involved in regulating the body's response to stress switches on more easily in the brains of people who live with schizophrenia. https://medicalxpress.com/news/2026-08-stress-gene-stuck-brains-people.html Wed, 26 Aug 2026 00:00:02 EDT news706859782 Premature ovarian insufficiency affects up to 3.5% of women and is an important cause of female infertility. However, in most cases, the underlying cause remains unknown. A recent study by researchers at the University of Tartu showed that a single comprehensive genetic analysis can identify genetic causes in some women whose condition had previously remained unexplained. The research is published in the journal Human Reproduction Open. https://medicalxpress.com/news/2026-08-genetic-uncover-previously-unexplained-premature.html Tue, 25 Aug 2026 16:40:08 EDT news706893721 Patients with sickle cell disease are often hesitant to undergo transformative gene therapy—the current lengthy process requires multiple hospital visits to collect enough stem cells. Researchers from Boston Children's Hospital have helped smooth the road to gene therapy with a new approach that collects enough of the patient's stem cells in a single hospital admission for most patients, improving the turnaround time for genetically altering and infusing the cells back into the patient. The long-term follow-up results of the first-in-human phase I pilot clinical trial were recently published in Blood. https://medicalxpress.com/news/2026-08-human-trial-stem-cell-delivery.html Tue, 25 Aug 2026 16:00:06 EDT news706891861 Autism spectrum disorder is a developmental disorder characterized by difficulties with social interaction, restricted interests and repetitive behaviors. It has attracted significant attention because of its high prevalence, affecting approximately 1 in every 36 people, and symptoms that interfere with daily life. In recent years, genetic mutation analysis of individuals with autism has revealed that Chd8, a chromatin remodeler, is one of the genes most frequently mutated in association with autism. https://medicalxpress.com/news/2026-08-abnormal-differentiation-fetal-neural-progenitor.html Tue, 25 Aug 2026 15:20:05 EDT news706883822 Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure. Despite decades of research, treatment options for the disease remain limited, and many patients ultimately require dialysis or kidney transplantation. https://medicalxpress.com/news/2026-08-protein-production-genetic-approach-polycystic.html Tue, 25 Aug 2026 14:00:02 EDT news706881242 Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part of a group called body-focused repetitive behaviors, or BFRBs. https://medicalxpress.com/news/2026-08-clues-genetic-roots-hair-skin.html Tue, 25 Aug 2026 07:40:04 EDT news706861741 Ovarian clear cell carcinoma (OCCC) has a higher prevalence among East Asian women and is characterized by poor clinical outcomes. An interdisciplinary team led by Professor Ruby Yun-Ju Huang at National Taiwan University College of Medicine has established a comprehensive spatial atlas of OCCC, revealing how distinct tumor cell populations are organized within the same tumor and identifying a key molecular regulator of tumor plasticity. https://medicalxpress.com/news/2026-08-spatial-atlas-reveals-ovarian-cell.html Mon, 24 Aug 2026 12:40:08 EDT news706790581 Researchers from the University of California San Diego and collaborators have identified a previously overlooked pattern of DNA mutations in colorectal cancer. Scientists use these patterns, known as mutational signatures, to investigate the biological and environmental processes that have damaged DNA during cancer development. https://medicalxpress.com/news/2026-08-previously-dna-mutation-pattern-colorectal.html Sat, 22 Aug 2026 14:00:02 EDT news706360046 Younger adults with non-small cell lung cancer are significantly more likely than older patients to have genetic alterations that can be matched with targeted therapies, according to a large international study led in part by researchers at Sylvester Comprehensive Cancer Center, part of the University of Miami Miller School of Medicine. https://medicalxpress.com/news/2026-08-younger-adults-lung-cancer-genetic.html Fri, 21 Aug 2026 19:40:01 EDT news706528950 In a rare pair of papers published back-to-back in the journal Genes & Development, research teams led by senior author Anindya Bagchi, Ph.D., associate professor in the Cancer Genome and Epigenetics Program at Sanford Burnham Prebys Medical Discovery Institute, establish a unified framework that governs one of cancer's most powerful master regulators. https://medicalxpress.com/news/2026-08-framework-cancer-major-drivers.html Thu, 20 Aug 2026 18:40:04 EDT news706459022 An Australian research collaboration has identified several existing TGA-approved medicines that could help slow brain damage in children with a rare form of dementia—offering hope for faster treatment options. https://medicalxpress.com/news/2026-08-ai-screening-drugs-childhood-dementia.html Thu, 20 Aug 2026 12:20:09 EDT news706443002 Two patients with chronic lymphocytic leukemia (CLL) can face very different futures. One may live for decades without needing treatment, while another may develop rapidly progressing disease. In a new study from Karolinska Institutet, published in the journal Blood Neoplasia, researchers map what distinguishes the two patient groups. https://medicalxpress.com/news/2026-08-diversity-chronic-lymphocytic-leukemia-cell.html Wed, 19 Aug 2026 21:20:03 EDT news706356034 New research led by the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London, in collaboration with an international partnership of researchers, has, for the first time, compared the genetics of people with binge eating with those without any eating disorder. The paper also includes the largest-ever genetic study of anorexia nervosa. https://medicalxpress.com/news/2026-08-international-genetic-disorders.html Wed, 19 Aug 2026 12:40:09 EDT news706357261 New insights into why some children with rhabdomyosarcoma (RMS) develop aggressive disease despite being classified as non-high-risk have been uncovered. The discovery could help clinicians identify children with potentially lethal disease at diagnosis and tailor their treatment accordingly. https://medicalxpress.com/news/2026-08-hidden-aggressive-cells-reveal-childhood.html Wed, 19 Aug 2026 10:00:06 EDT news706193654 Melbourne researchers have made a gene therapy breakthrough that could restore heart function in children with genetic heart disease, sparing them the need for transplants. https://medicalxpress.com/news/2026-08-gene-reverses-inherited-heart-disease.html Wed, 19 Aug 2026 10:00:02 EDT news706201201 A new study shows that incorporating a genetic risk score into standard testing for a genetic form of diabetes that affects young people could identify hidden type 1 diabetes in about 1 in 5 patients with a negative genetic test. https://medicalxpress.com/news/2026-08-genetic-score-mody-referrals-hidden.html Wed, 19 Aug 2026 08:20:03 EDT news706345202 A new analysis from the Gabriella Miller Kids First Data Resource Center (Kids First DRC) shows how a collaborative, data-driven research model is creating broader opportunities to understand pediatric disease. https://medicalxpress.com/news/2026-08-standard-pediatric.html Tue, 18 Aug 2026 21:40:03 EDT news706258102 Autism spectrum disorder (ASD) affects every individual differently. Scientists have identified more than a thousand genes associated with ASD, yet no single gene accounts for most cases. This has left researchers with a longstanding question: How can such diverse genetic changes give rise to the same condition yet affect each person so differently? https://medicalxpress.com/news/2026-08-patchy-brain-autism-varied-traits.html Tue, 18 Aug 2026 13:40:09 EDT news706278541 Alzheimer's disease is the most common form of dementia worldwide, and its development is influenced by a combination of genetic and environmental factors. In recent years, the PLCG2 gene and its encoded enzyme, PLCγ2, have emerged as some of the most important modifiers of Alzheimer's disease risk, as certain genetic variants in the gene appear to protect against the disease. For example, the protective P522R variant in PLCG2 increases PLCγ2 enzyme activity, suggesting that enhanced enzyme function may help prevent disease development. https://medicalxpress.com/news/2026-08-rare-gene-variants-alzheimer-disease.html Mon, 17 Aug 2026 12:00:03 EDT news706184101