https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics For patients with blood cancers like leukemia and lymphoma, the immunotherapy known as CAR-T cell therapy can be lifesaving. Doctors remove a patient's immune cells, called T cells, engineer them in the lab to better recognize and attack cancer, and infuse them back into the bloodstream. But for solid tumors—which include lung, pancreatic, ovarian, colon, breast and other cancer types—these engineered immune cells still face too much resistance to effectively treat the disease. https://medicalxpress.com/news/2026-08-vivo-crispr-screen-gene-car.html Wed, 12 Aug 2026 18:40:03 EDT news705772141 A large population-based study led by researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Mass General Brigham suggests that genetic testing added to routine newborn screening could identify some babies at increased risk of developing cancer before symptoms appear, opening a window for cancer surveillance and early detection. The paper was published in Nature Communications. https://medicalxpress.com/news/2026-08-genomic-newborn-screening-children-early.html Wed, 12 Aug 2026 17:20:05 EDT news705766449 Advances in genome sequencing are giving more families access to prenatal genetic testing and new information about an unborn baby's health, including whether genetic changes may be linked to a neurodevelopmental condition. https://medicalxpress.com/news/2026-08-machine-approach-greater-certainty-prenatal.html Wed, 12 Aug 2026 09:20:01 EDT news705743881 Researchers at Columbia University Mailman School of Public Health, in collaboration with investigators at the University of Chicago, have developed a new computational framework that helps scientists identify genes that play central roles in diseases such as asthma but are often overlooked by existing genetic analysis methods. https://medicalxpress.com/news/2026-08-framework-pathway-asthma-inflammation.html Tue, 11 Aug 2026 16:00:03 EDT news705677762 Immunosuppressive medications help prevent organ rejection following transplantation, yet some patients still experience rejection despite receiving adequate treatment. New research from Yale, published in the Journal of Clinical Investigation, identifies a potential genetic mechanism underlying the increased risk in some patients of recent African ancestry, revealing changes in immune cell signaling that may contribute to kidney transplant rejection. https://medicalxpress.com/news/2026-08-genetic-variants-kidney-transplant.html Tue, 11 Aug 2026 11:20:07 EDT news705665881 A multidisciplinary, multi-institution group of researchers focused their expertise in genetics, mechanics, chemistry and biology on a chip the size of a postage stamp to model a particular class of heart conditions. https://medicalxpress.com/news/2026-08-heart-assembloids-valve-disorders.html Tue, 11 Aug 2026 11:00:06 EDT news705586681 Stress or trauma during childhood may leave people more vulnerable to mental health struggles and stress later in life. Scientists think one reason could be that early-life stress leaves lasting molecular bookmarks on DNA, without changing the genetic sequence itself. A recent study published in the Journal of Neuroscience digs deeper into the biology of chemical marks left behind by stress. https://medicalxpress.com/news/2026-08-adulthood-chemical-quietly-brain-stress.html Tue, 11 Aug 2026 09:20:07 EDT news705658566 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 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 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 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 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 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 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 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 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 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 A gene-editing tool designed to precisely rewrite the gene that causes Huntington's disease reduced toxic protein fragments and symptoms associated with the disease in mice, researchers at the University of Illinois Urbana-Champaign report. https://medicalxpress.com/news/2026-07-gene-tool-huntington-toxic-protein.html Wed, 29 Jul 2026 15:40:08 EDT news704552413