https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics Patients with a specific type of bowel cancer who were treated with a short course of immunotherapy before surgery instead of post-op chemotherapy have remained cancer-free after almost three years of follow-up, according to new results from the NEOPRISM-CRC clinical trial led by a team from UCL and UCLH. https://medicalxpress.com/news/2026-04-bowel-cancer-immunotherapy-clinical-trial.html Mon, 20 Apr 2026 17:30:01 EDT news695893862 Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known as AARS2-related cardiomyopathy, is caused by inherited mutations in the alanyl-transfer RNA (tRNA) synthetase 2 (AARS2) gene and is often fatal within the first year of life. Currently, no treatment or cure exists. https://medicalxpress.com/news/2026-04-newly-uncovered-gene-rewires-infant.html Mon, 20 Apr 2026 12:20:08 EDT news695905201 The physical differences between men and women are all too obvious, but the biological divide goes right down to the cellular level in the brain, according to a new study published in the journal Science. https://medicalxpress.com/news/2026-04-sex-differences-brain-gene-disorders.html Sat, 18 Apr 2026 10:00:01 EDT news695651908 In a new study published in Genes & Development, research led by Dr. Lila Allou at the MRC Laboratory of Medical Sciences (LMS) in London and Professor Stefan Mundlos at the Max Planck Institute for Molecular Genetics and Charité in Berlin demonstrates how different regulatory genetic elements coordinate the temporal activity of a key developmental gene. Their findings likely explain subtle differences seen in patients with congenital limb malformations, for which the underlying disease mechanisms often remain unknown. https://medicalxpress.com/news/2026-04-gene-reveal-key-limb.html Fri, 17 Apr 2026 13:20:06 EDT news695647681 Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the brain as a new cause of a debilitating form of migraine, according to a study published in Brain. Familial hemiplegic migraine (FHM), a rare and severe form of migraine, is marked by temporary paralysis or weakness on one side of the body during attacks. Although the disorder runs in families, known migraine-linked genes explain fewer than one in five genetically diagnosed cases, said Alfred L. George, Jr., MD, chair and the Alfred Newton Richards Professor of Pharmacology, who was co-corresponding author of the study. https://medicalxpress.com/news/2026-04-epilepsy-gene-implicated-severe-migraine.html Thu, 16 Apr 2026 14:40:04 EDT news695563691 An innovative gene-editing strategy could establish a new way for the body to manufacture therapeutic proteins—including certain kinds of highly potent antibodies that are naturally difficult to produce—by reprogramming the immune system itself. https://medicalxpress.com/news/2026-04-immune-therapeutic-proteins.html Thu, 16 Apr 2026 14:00:08 EDT news695550288 Why does the same genetic mutation cause a severe brain malformation in some patients but not in others? Researchers from the MOSAIC team at the Paris Brain Institute have developed mosaic human cortical organoids carrying mutations in the DEPDC5 gene in order to model focal cortical dysplasia—a brain malformation responsible for drug-resistant epilepsy in children. https://medicalxpress.com/news/2026-04-lab-grown-mini-brains-childhood.html Thu, 16 Apr 2026 12:40:07 EDT news695556061 Researchers at the MRC Laboratory of Medical Sciences (LMS) and Imperial College London have identified an overworked cog in the cellular machinery of tumor cells that could be targeted by new treatment options for an aggressive class of cancers. The team found that blocking this system with known drugs selectively killed these cancers—those linked to mutations in a set of genes known as RAS—and caused mouse tumors to shrink, suggesting a new strategy for tackling cancers that often resist treatment. https://medicalxpress.com/news/2026-04-overloaded-rna-room-reveals-weakness.html Wed, 15 Apr 2026 19:20:06 EDT news695491442 Northwestern Medicine scientists have uncovered an unexpected role for a well-known cancer-related protein, revealing a new layer of genetic regulation that could reshape how certain cancers are treated. In a new study published in Nature Communications, investigators found that EZH2—a protein long recognized for its role in modifying DNA-packaging histones—also plays a direct and previously unknown role in RNA editing in prostate cancer. https://medicalxpress.com/news/2026-04-major-cancer-protein-hijacks-rna.html Wed, 15 Apr 2026 17:20:05 EDT news695487721 The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When fragments of the body's own damaged DNA are mistaken for viral invaders, the result is a powerful, misplaced inflammatory response that harms the body it is meant to protect. Now, an international team has identified this misdirected immune response as a central driver of tissue degeneration in severe, rapid-aging disorders. By reducing this false alarm, the researchers were able to restore function across multiple biological systems. https://medicalxpress.com/news/2026-04-misdirected-dna-alarm-reshape-treatment.html Wed, 15 Apr 2026 16:20:03 EDT news695486377 If scientists could shrink themselves to microscopic size and take a journey through the human body—like the submarine crew in the 1966 science fiction classic "Fantastic Voyage"—one of their first stops would no doubt be the liver. The unique structure of our largest internal organ comprises small, hexagonal functional units called lobules, each carrying out more than 500 functions simultaneously. Studies from the 1970s and 1980s revealed that liver cells divide these many tasks among themselves according to their location within each subunit; however, the technology available at the time provided only a blurred picture of this division of labor. https://medicalxpress.com/news/2026-04-genetic-atlas-reveals-human-liver.html Wed, 15 Apr 2026 15:00:06 EDT news695481601 Dozens of unexpected genes are strongly linked to type 2 diabetes, new research from The Jackson Laboratory (JAX) shows. The findings, based on a new genomic atlas of pancreatic cells from non-diabetic, prediabetic, and diabetic people, suggest the disease depends on expression of genes key to cell death and vitamin A metabolism. https://medicalxpress.com/news/2026-04-diabetes-reveals-previously-overlooked-genes.html Wed, 15 Apr 2026 14:20:13 EDT news695481361 Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases. https://medicalxpress.com/news/2026-04-rna-sequencing-platform-rare-disease.html Wed, 15 Apr 2026 14:00:03 EDT news695394721 An international group led by researchers from the RIKEN Center for Integrative Medical Sciences (IMS) in Japan has discovered associations between pathogenic variants of the BRCA 1 and 2 genes and four types of cancer. Published in ESMO Open, the findings expand the potential for personalized medicine to several cancer types that currently have limited treatment options and poor prognoses. https://medicalxpress.com/news/2026-04-brca-cancer-grew-gene-mutations.html Wed, 15 Apr 2026 12:00:01 EDT news695472421 Diseases like cancer or neurodegeneration are known to arise from genetic misfires. But treating such complex conditions hasn't been simply a matter of identifying the malfunctioning genes involved. With hundreds of genetic mutations spanning diverse pathways at play, connecting the dots between a constellation of mutations and a specific outcome has proved to be enormously difficult. https://medicalxpress.com/news/2026-04-powerful-cancer-tracks-hundreds-mutations.html Wed, 15 Apr 2026 11:00:16 EDT news695395322 A study from Columbia University Mailman School of Public Health reports a major advance in understanding how interactions between human and viral genomes shape disease risk. The research found that variations in the Epstein–Barr virus, together with a specific immune-related gene (HLA-A*11:01), strongly influence the risk of nasopharyngeal cancer. The findings are published in Nature. https://medicalxpress.com/news/2026-04-genome-wide-analysis-reveals-hostvirus.html Wed, 15 Apr 2026 11:00:05 EDT news695394841 A new blood test can identify which individuals of African ancestry carrying high-risk APOL1 gene variants are most likely to develop kidney failure, years before clinical disease becomes apparent. Findings on the new test, developed by a team from the Perelman School of Medicine at the University of Pennsylvania, are published in Nature Medicine. https://medicalxpress.com/news/2026-04-blood-kidney-failure-black-americans.html Wed, 15 Apr 2026 05:00:10 EDT news695379661 Ribosomal RNA (rRNA), made from many copies of ribosomal DNA (rDNA), is the core component that powers ribosomes—protein-building machines in our body. It helps build proteins by linking amino acids together, and can also fine-tune this process by interacting with other proteins and messenger RNA (mRNA). For a long time, scientists assumed ribosomes were more or less identical within a species. A new study in Cell Genomics is challenging that idea. https://medicalxpress.com/news/2026-04-overlooked-ribosomal-dna-human-size.html Tue, 14 Apr 2026 19:40:03 EDT news695401950 Though many studies approach the developmental disorder Rett syndrome as a single condition arising from general loss of function in the gene MECP2, a new study by neuroscientists at The Picower Institute for Learning and Memory at MIT shows that two different mutations of the gene caused many distinct abnormalities in lab cultures. Moreover, correcting key differences made by each mutation required different treatments. The research is published in the journal Nature Communications. https://medicalxpress.com/news/2026-04-rett-syndrome-highlights-potential-personalized.html Tue, 14 Apr 2026 17:40:01 EDT news695403841 In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the making long before KJ was born. One was base editing, the technology developed in 2016 by David Liu and his lab at the Broad Institute that makes single-letter changes in DNA and was used to correct KJ's life-threatening mutation. https://medicalxpress.com/news/2026-04-base-mutation-liver-function-mouse.html Tue, 14 Apr 2026 15:00:09 EDT news695396461 Scientists have taken an important step toward a gene therapy that could one day turn off the extra genetic material that causes Down syndrome (DS). Down syndrome is a genetic condition caused by an extra chromosome 21 (and consequently hundreds of triplicate genes) that leads to developmental and neurological issues. According to the Washington-based National Down Syndrome Society, approximately 1 in every 640 babies in the United States is born with DS. That makes it the most common chromosomal condition. https://medicalxpress.com/news/2026-04-crispr-bold-silencing-syndrome-extra.html Tue, 14 Apr 2026 13:40:07 EDT news695392514 The USC research team that recently identified the hormone-encoding gene GDF15 as a key driver of pregnancy sickness has identified nine additional genes linked to its most severe form, hyperemesis gravidarum (HG). Six of these genes had not been previously linked to the condition. https://medicalxpress.com/news/2026-04-largest-pregnancy-sickness-uncovers-genetic.html Tue, 14 Apr 2026 05:00:03 EDT news695310421 Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In a paper appearing in Human Genetics and Genomics Advances, the researchers have published findings that identify the faulty mutated gene. By exploring the biochemical consequences of the mutation, the investigators also showed that this typo in the genetic code interferes with normal cellular function, as expected of an unknown congenital disorder of glycosylation (CDG). https://medicalxpress.com/news/2026-04-newly-rpn1-disease-protein-disrupt.html Mon, 13 Apr 2026 17:40:04 EDT news695314922 Autism spectrum disorder (ASD) is a neurodevelopmental condition estimated to affect approximately 1 in 100 children worldwide. This condition is characterized by differences in how people communicate and interact with others, as well as restricted interests and repetitive behaviors. https://medicalxpress.com/news/2026-04-neuroinflammation-triggers-autism-regression-mouse.html Mon, 13 Apr 2026 13:30:01 EDT news695304832 Chloride ions, best known for helping cells maintain fluid balance and electrical stability, may also play a more direct role in regulating brain development than previously thought. In a new study, published in the journal Science Signaling, scientists have found that the ions can alter the activity of a key RNA-processing enzyme, resulting in severe neurodevelopmental disorders. https://medicalxpress.com/news/2026-04-chloride-ions-neurons-genes.html Mon, 13 Apr 2026 11:20:06 EDT news695295187 An experimental drug designed to silence a gene strongly linked to Parkinson's disease has shown encouraging effects in a first-in-human clinical trial, according to a study published in Nature Medicine. The drug, known as BIIB094, targets LRRK2, the most common genetic contributor to Parkinson's disease; variants in LRRK2 are known to increase the risk of developing the neurodegenerative disorder, which affects nearly 10 million people worldwide. https://medicalxpress.com/news/2026-04-experimental-drug-parkinson-linked-protein.html Sat, 11 Apr 2026 13:00:02 EDT news694868490 More than a quarter of people with Type 2 diabetes take GLP-1 receptor agonists, but the popular diabetes drugs might not work as well for people who have certain genetic variants, according to a new study by Stanford Medicine scientists and their collaborators. https://medicalxpress.com/news/2026-04-genetic-variants-people-bloodsugar-response.html Sat, 11 Apr 2026 06:20:01 EDT news695106392 Keratin is the fibrous, waterproof protein that builds everything from our hair and nails to a rhino's horn. However, a tiny glitch in it can have problematic outcomes. A new study has found that changes in a keratin gene called KRT16 can lead to a rare condition known as pachyonychia congenita (PC). This disorder affects the skin, nails, and the lining of the mouth, and often causes painful, thick patches of skin—especially on the hands and feet. https://medicalxpress.com/news/2026-04-skin-protein-k16-inflammation-stressed.html Fri, 10 Apr 2026 13:20:03 EDT news695037258 Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics between nerve cells, serves as a new cause of autism spectrum disorder (ASD), and suggested the possibility of a drug to treat the disorder. This study holds great significance, as it provides biological clues on why autism is more frequent among men than among women. The findings are published in the journal EMBO Molecular Medicine. https://medicalxpress.com/news/2026-04-autism-affects-men-women-mdga1.html Thu, 09 Apr 2026 17:00:05 EDT news694970581 Northwestern Medicine scientists have discovered that a specific long non-coding RNA activates oncogenic signaling pathways in prostate cancer cells and drives tumor progression, underscoring its potential as a therapeutic target, according to a recent study published in Nature Communications. Rendong Yang, Ph.D., associate professor of Urology and a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University, was co-corresponding author of the study. https://medicalxpress.com/news/2026-04-coding-rna-therapeutic-cancer.html Thu, 09 Apr 2026 16:00:04 EDT news694965789