https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics Researchers at Weill Cornell Medicine have uncovered how a key Parkinson's protein called LRRK2 shifts between inactive and active forms, revealing the structural changes that enable certain mutations to push the protein into an overactive state. Mutations that cause LRRK2 to become abnormally active are among the most common genetic causes of Parkinson's disease. Even without these mutations, some people with Parkinson's disease have elevated LRRK2 activity. https://medicalxpress.com/news/2026-08-molecular-roadmap-parkinson-disease-therapeutics.html Mon, 10 Aug 2026 12:40:03 EDT news705582721 Three research teams working independently around the world have landed on the same discovery: A single molecular "handshake" inside our cells controls a family of inflammatory diseases, including one of the most common inherited fevers on Earth. The finding solved a decades-old puzzle for one family and led to a treatment that worked almost immediately. https://medicalxpress.com/news/2026-08-mysterious-inflammatory-fever-bigger-story.html Mon, 10 Aug 2026 10:20:08 EDT news705575762 The secret ingredient for treating a rare nervous system disease could be hiding in the fridge, Swinburne researchers have discovered. https://medicalxpress.com/news/2026-08-broccoli-untreatable-rare-nerve-disease.html Mon, 10 Aug 2026 08:00:01 EDT news705562862 Researchers have created the most complete genetic profile of the brown rat to date, according to a UTHealth Houston-led team, paving the way for scientists to more accurately investigate genetic links to conditions like heart disease, kidney disease, high blood pressure and stroke. https://medicalxpress.com/news/2026-08-telomere-brown-rat-genome-sharpen.html Sat, 08 Aug 2026 16:40:02 EDT news705314844 Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease in which the body's own immune system overreacts to minimal or inappropriate stimuli, producing recurrent attacks of fever and painful inflammation. The disease is caused by mutations in MEFV, the gene that encodes a protein called pyrin. https://medicalxpress.com/news/2026-08-body-inflammatory-alarm-misfires-familial.html Fri, 07 Aug 2026 14:00:03 EDT news705236821 Understanding how heart muscle cells stop dividing and acquire the characteristics needed to sustain lifelong cardiac function remains one of the greatest challenges in cardiovascular biology. Leveraging human induced pluripotent stem (iPS) cell technology, a team led by Associate Professor Yoshinori Yoshida (Department of Clinical Application, CiRA, Kyoto University) and Associate Professor Antonio Lucena-Cacace (WPI-PRIMe, The University of Osaka) has identified PRDM16 as an important regulator governing the balance between proliferation and maturation in human iPSC-derived cardiomyocytes. https://medicalxpress.com/news/2026-08-growth-function-gene-human-heart.html Fri, 07 Aug 2026 12:40:01 EDT news705325083 Inherited bone marrow failure syndrome, or IBMFS, describes a group of disorders in which inherited genetic abnormalities impair the bone marrow's ability to produce sufficient healthy blood cells. Patients with these disorders are also at increased risk of developing myelodysplastic syndromes—MDS—a group of blood cancers in which the bone marrow produces excess abnormal blood cells and insufficient healthy ones. https://medicalxpress.com/news/2026-08-gene-mutations-bone-marrow-conditions.html Thu, 06 Aug 2026 20:00:01 EDT news705160081 A new study from the laboratory of Gemma Carvill, Ph.D., associate professor in the Ken and Ruth Davee Department of Neurology's Division of Epilepsy and Clinical Neurophysiology, has uncovered variants in noncoding regulatory regions of the genome that contribute to the development of neurodevelopmental disorders. https://medicalxpress.com/news/2026-08-hidden-dna-neurodevelopmental-disorders-foxg1.html Thu, 06 Aug 2026 17:00:01 EDT news705251966 Osteoarthritis (OA) is a chronic, painful joint disease and a leading cause of disability. Despite its prevalence, therapies for osteoarthritis are limited and focus on symptom management. Now, researchers are combining genetic studies of Utah families with AI-based molecular biology tools to find new medications that may ultimately help treat OA at its source. https://medicalxpress.com/news/2026-08-osteoarthritis-medicines-ai-genetics.html Thu, 06 Aug 2026 15:00:05 EDT news705159841 Dr. Stacy Norton was only 7 years old when her mother died of colon cancer, one of several family members struck by aggressive tumors at unusually young ages. Decades later, Norton rolled up her sleeve to help test if a new kind of vaccine might protect her and her own children from cancer. https://medicalxpress.com/news/2026-08-underway-vaccines-intercept-brewing-colon.html Thu, 06 Aug 2026 12:00:05 EDT news705234804 Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized genomics routine in medical care. https://medicalxpress.com/news/2026-08-human-genome-milestone-door-personalized.html Thu, 06 Aug 2026 11:00:10 EDT news705166442 To study complex diseases like Alzheimer's, scientists and clinicians analyze how genes change and malfunction in other species. Marmosets, a species of tiny monkey from South America, have become an important animal model for understanding disease, but researchers have never had a complete baseline for understanding the primate's DNA. https://medicalxpress.com/news/2026-08-marmoset-genome-enable-alzheimer-neurodegenerative.html Thu, 06 Aug 2026 11:00:01 EDT news705075002 About 2 meters (6.6 feet) of genetic material must fit into the nucleus of each of most of our trillions of cells, coiling and winding to form what looks like a tangled mess. But when genes are used, how they are used and how often they are used are completely intertwined with that mess. https://medicalxpress.com/news/2026-08-tonsil-genetic-spaghetti-yields-insights.html Thu, 06 Aug 2026 09:20:01 EDT news705226382 Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance from early childhood, typically every three months. In a new study, researchers examined how well such surveillance programs function in practice and what consequences they have for children and their families. https://medicalxpress.com/news/2026-08-regular-sustain-high-children-inherited.html Wed, 05 Aug 2026 11:00:15 EDT news705139741 A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients. https://medicalxpress.com/news/2026-08-biobank-tumor-reveals-cancers-weak.html Wed, 05 Aug 2026 11:00:03 EDT news705073562 Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research in FEBS Open Bio reveals that PSPH in ancient human genomes differed functionally from modern and disease-associated versions of the gene. https://medicalxpress.com/news/2026-08-insights-evolution-gene-linked-neurodevelopmental.html Wed, 05 Aug 2026 03:10:01 EDT news705047087 A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells can help explain genetic risk for Crohn's disease and other autoimmune conditions. https://medicalxpress.com/news/2026-08-3d-genome-rare-immune-cells.html Tue, 04 Aug 2026 16:20:07 EDT news705073317 In a longitudinal study conducted at Vanderbilt Health, including investigators from the Vanderbilt Memory and Alzheimer's Center (VMAC), researchers found that lower cardiac output is associated with accelerated cerebral atrophy among older adults who carry the APOE-e4 allele, a genetic risk factor for Alzheimer's disease. https://medicalxpress.com/news/2026-08-cardiac-output-faster-brain-loss.html Tue, 04 Aug 2026 14:10:01 EDT news705068522 Congenital heart disease affects approximately two in every 100 newborns globally. But why does it occur? An important part of the answer may lie in a previously unknown mechanism on the surface of our cells. Researchers from the University of Copenhagen identified this mechanism in a new study. https://medicalxpress.com/news/2026-08-uncover-hidden-mechanism-congenital-heart.html Tue, 04 Aug 2026 14:00:05 EDT news704993941 Every time a virus invades a person, it collides with thousands of years of human history. A study led by researchers at the USC Dornsife College of Letters, Arts and Sciences and Howard University suggests that some of the genes involved in the body's immune response today bear the marks of ancient battles with infectious diseases. https://medicalxpress.com/news/2026-08-evolutionary-history-people-severe-covid.html Tue, 04 Aug 2026 09:40:04 EDT news705054001 One in four children diagnosed with fetal alcohol spectrum disorder was found to have rare chromosomal differences at considerably higher rates than the general population, according to a study published in Alcohol: Clinical and Experimental Research. Half of those differences were associated with harmful or potentially harmful genetic variations. The study's authors recommend high-resolution genetic testing whenever fetal alcohol spectrum disorder is diagnosed to provide a more complete clinical diagnosis and identify opportunities for improved medical management. https://medicalxpress.com/news/2026-08-rare-chromosomal-differences-children-fetal.html Mon, 03 Aug 2026 15:20:08 EDT news704978102 Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic inflammatory disease characterized by eosinophilia, an abnormal increase in eosinophils—a type of white blood cell—and inflammation of small blood vessels across multiple organs, which can lead to organ damage. The disease is often preceded by asthma or chronic rhinosinusitis and has been designated an intractable disease in Japan. https://medicalxpress.com/news/2026-08-insights-genetic-architecture-rare-inflammatory.html Mon, 03 Aug 2026 14:40:05 EDT news704977716 Northwestern Medicine scientists have uncovered how a major Parkinson's disease gene disrupts the brain's most vulnerable dopamine-producing neurons before detectable neuronal loss. The study offers new clues for developing treatments that target the disease in its earliest stages, said the study's senior author, Loukia Parisiadou, Ph.D., assistant professor of pharmacology. The findings are published in Nature Communications. https://medicalxpress.com/news/2026-08-parkinson-gene-linked-early-dysfunction.html Mon, 03 Aug 2026 14:40:02 EDT news704980441 Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder that causes remarkable premature aging. Most patients die during their teenage years from cardiovascular disease, but the precise mechanisms underlying vascular damage remain unclear. https://medicalxpress.com/news/2026-07-somatic-mutations-linked-vascular-progeria.html Sun, 02 Aug 2026 09:20:01 EDT news704719804 In a study published in the journal Science, researchers in Queensland and the United States discovered that the human X chromosome attracts an unusual kind of DNA mutation, potentially doubling the risk of certain genetic disorders, including hemophilia and muscular dystrophy. https://medicalxpress.com/news/2026-07-chromosome-inactivation-mutations-hemophilia-muscular.html Fri, 31 Jul 2026 10:20:01 EDT news704710741 An estimated 10 million Americans have atrial fibrillation (AFib), according to the National Institutes of Health's National Heart, Lung, and Blood Institute. AFib is a condition in which the upper chambers of the heart beat out of rhythm with the lower chambers, leading to less efficient blood flow. It is usually the result of age and the lifelong cardiovascular strains on an older heart, but some families carry a rare mutation that puts them at high risk for AF much earlier in life, raising the risk of complications such as stroke or even sudden death. https://medicalxpress.com/news/2026-07-irregular-heartbeat-years-early-people.html Fri, 31 Jul 2026 08:40:06 EDT news704705641 A previously unknown microprotein hidden within the human mitochondrial genome may help explain certain forms of type 2 diabetes and could point toward a new precision medicine approach to treating it, according to a new USC study. https://medicalxpress.com/news/2026-07-newly-microprotein-linked-diabetes-precision.html Thu, 30 Jul 2026 15:20:06 EDT news704642701 Transgender and gender-diverse (TGD) individuals experience significant health care disparities across the oncology spectrum of care. Systemic barriers, past harmful health care experiences, the sociopolitical climate and other impediments to accessing health care combine to influence these disparities. TGD individuals undergoing gender-affirming mastectomy ("top surgery") face unique challenges related to breast cancer risk assessment and screening. Currently, a patient can undergo top surgery without understanding how that procedure will affect their lifelong breast and chest cancer risk—and, critically, without knowing whether they carry predispositions that could fundamentally reshape their surgical decisions. https://medicalxpress.com/news/2026-07-barriers-transgender-individuals-breast-cancer.html Thu, 30 Jul 2026 12:20:03 EDT news704631722 Women who test negative for BRCA gene mutations may still be at greater risk of developing breast cancer than the general population, according to a study led by Cedars-Sinai Health Sciences University investigators. https://medicalxpress.com/news/2026-07-family-history-breast-cancer-brca.html Thu, 30 Jul 2026 11:00:03 EDT news704535541 For some families, the reason their child is not developing as expected remains unclear for a long time. Researchers at the Leibniz Institute for Neurobiology (LIN) in Magdeburg have now identified a genetic cause of a previously unexplained developmental disorder. They showed that changes in the NPTN gene can impair the function of nerve cells. Affected children experience developmental delays, often autism and, in some cases, epilepsy. https://medicalxpress.com/news/2026-07-nptn-gene-linked-rare-developmental.html Thu, 30 Jul 2026 10:00:02 EDT news704621705