https://medicalxpress.com/genetics-news/ en-us Latest medical news and research in Clinical genetics For centuries, Polynesian navigators crossed thousands of miles of open ocean, using their knowledge of stars, currents, birds, clouds and the sea to settle islands across the Pacific. Now, a new University of California San Diego study shows the history of voyaging is also reflected in the genomes of Polynesian populations today. https://medicalxpress.com/news/2026-10-polynesian-wayfinding-written-genomes-island.html Thu, 08 Oct 2026 14:00:27 EDT news710674681 A team of hearing specialists at Vanderbilt Health analyzed thousands of data samples in the institution's BioVU biobank to understand genetic susceptibility of sensorineural hearing loss, which is caused by damage to the inner ear. Their study is published in JAMA Otolaryngology-Head & Neck Surgery. https://medicalxpress.com/news/2026-10-genetic-insights-loss-earlier.html Thu, 08 Oct 2026 11:00:20 EDT news710667121 Malaria is one of the deadliest infectious diseases on the planet, afflicting people throughout recorded history. In places where malaria is most common, it's shaped human evolution by driving higher rates of a paradoxically protective genetic change. Two copies of the genetic change cause sickle cell disease, but one copy helps protect people from malaria. Understanding why could help researchers develop new ways to prevent malaria. https://medicalxpress.com/news/2026-10-distinct-malaria-parasites-sickle-cell.html Thu, 08 Oct 2026 05:00:26 EDT news710611861 Germline genetic screening can identify whether a patient with cancer has inherited genetic alterations in a gene or genes that are implicated in cancer. These inherited genetic alterations, known as germline pathogenic variants, can cause predispositions to cancer in people who carry them. Germline pathogenic variants can be used to flag cancer risk in patients' family members, and the presence of certain germline pathogenic variants can also potentially guide patients' treatments. https://medicalxpress.com/news/2026-10-current-age-based-genetic-patients.html Thu, 08 Oct 2026 00:10:08 EDT news710583119 A gene primarily active in fat and muscles could make a person more susceptible to anorexia nervosa, a deadly eating disorder with one of the highest mortality rates of any psychiatric disease. https://medicalxpress.com/news/2026-10-fat-gene-emerges-contributor-anorexia.html Thu, 08 Oct 2026 00:00:01 EDT news710588222 Three of England's seven NHS genetics laboratories are failing to routinely share vital information about genetic variants in public databases that helps patients with rare diseases access diagnosis and care, an investigation by The BMJ reveals. https://medicalxpress.com/news/2026-10-nhs-labs-vital-diagnosis-rare.html Wed, 07 Oct 2026 18:30:01 EDT news710588041 Genetic information may play an increasingly important role in the personalized preventive medicine of the future. Whole-genome sequencing could open up new possibilities for identifying susceptibility to and risk of specific diseases even before symptoms appear, emphasizes Dr. Gyula Richárd Nagy, a clinical geneticist at Semmelweis University. However, to achieve this, we must first accurately "read" our genome—that is, the billions of DNA letters—with increasing precision. We must also ensure that the reference we are comparing it to is appropriate. https://medicalxpress.com/news/2026-10-properly-genome.html Wed, 07 Oct 2026 17:00:22 EDT news710610121 Researchers have carried out the first single-cell analysis of mitochondrial DNA in a population of brainstem neurons that are particularly vulnerable to degeneration in Parkinson's disease. https://medicalxpress.com/news/2026-10-cell-dna-analysis-reveals-mitochondrial.html Wed, 07 Oct 2026 16:20:04 EDT news710605595 Infertility affects more than 15% of couples worldwide. Thanks to medical science, infertility treatments have come a long way over the past few years. For millions of people, in vitro fertilization (IVF) has opened a medical pathway to having biological children. This procedure gives fertilization a helping hand outside the body. It involves retrieving eggs from the ovaries and fertilizing them with sperm in a laboratory to create embryos. https://medicalxpress.com/news/2026-10-ivf-children-gene-dna.html Wed, 07 Oct 2026 14:40:08 EDT news710594153 A new study led by University of Pittsburgh School of Medicine researchers finds that adults with attention-deficit/hyperactivity disorder (ADHD) face a significantly higher risk of developing dementia or mild cognitive impairment later in life. The research, published today in JAMA Psychiatry, also found that people who carry a higher genetic risk for ADHD face a greater chance of cognitive decline even without a documented diagnosis. https://medicalxpress.com/news/2026-10-health-link-adhd-fourfold-higher.html Wed, 07 Oct 2026 11:00:07 EDT news710519701 Researchers have identified patterns of gene activity associated with severe COVID-19 in children that are shared with other serious respiratory infections. https://medicalxpress.com/news/2026-10-scientists-gene-signatures-children-severe.html Wed, 07 Oct 2026 07:00:05 EDT news710571362 Lymphatic malformations are rare disorders in which lymph vessels develop abnormally, often beginning in childhood and sometimes causing swelling, infection, bleeding, pain or airway obstruction. https://medicalxpress.com/news/2026-10-abnormal-lymph-vessels-heightened-growth.html Tue, 06 Oct 2026 17:20:10 EDT news710517722 A multicenter study led by researchers at Sultan Qaboos University has found that patients with a rare inherited form of lupus may continue to accumulate organ damage even when conventional measures indicate that their disease activity has declined. According to the research team, this represents the largest longitudinal cohort of DNASE1L3 deficiency reported to date. https://medicalxpress.com/news/2026-10-inherited-lupus-early-silently.html Tue, 06 Oct 2026 15:00:05 EDT news710515802 Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder. https://medicalxpress.com/news/2026-10-unexpected-link-rare-metabolic-disease.html Tue, 06 Oct 2026 14:20:20 EDT news710514782 Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing new evidence that a small skin biopsy can often help diagnose these rare and complex conditions without the need for more invasive procedures. https://medicalxpress.com/news/2026-10-international-validates-invasive-approach-mitochondrial.html Tue, 06 Oct 2026 12:20:01 EDT news710506741 The timing of deep brain stimulation (DBS) surgery is a critical factor in preserving cognitive function for Parkinson's disease patients with a specific genetic mutation, according to a new study by an international team of researchers. https://medicalxpress.com/news/2026-10-brain-memory-outcomes-parkinson-patients.html Tue, 06 Oct 2026 11:00:01 EDT news710501522 It's recommended that all adolescents get vaccinated against human papillomavirus (HPV), as the infection can cause cancer. HPV causes nearly all cases of cervical cancer and about 70% of some forms of head and neck cancers. While some regions of the United States have relatively high rates of HPV vaccination, there are major vaccine shortages in much of the world. https://medicalxpress.com/news/2026-10-hpv-method-stable-easier-vaccines.html Tue, 06 Oct 2026 09:40:27 EDT news710496002 The largest genetic study of cognition to date has been published, involving nearly half a million people of European ancestry. This provides a new understanding of the genetic factors that shape cognitive differences and can help us better understand certain health conditions, including neurodevelopmental conditions. https://medicalxpress.com/news/2026-10-rare-genetic-variants-linked-cognitive.html Mon, 05 Oct 2026 12:20:13 EDT news710420161 Understanding how fetal DNA travels in a pregnant woman's blood could unlock the next generation of prenatal screening, according to a new paper published in Science Advances. https://medicalxpress.com/news/2026-10-fetal-dna-maternal-blood-prenatal.html Fri, 02 Oct 2026 14:00:19 EDT news710067797 Mayo Clinic researchers report encouraging early results from an experimental therapy targeting the genetic cause of a rare form of amyotrophic lateral sclerosis, or ALS. https://medicalxpress.com/news/2026-10-early-results-therapy-patient-rare.html Fri, 02 Oct 2026 07:00:15 EDT news710133481 A new review published in Science brings together growing evidence that the X and Y chromosomes do more than determine biological sex. They also shape how cells function, age and respond to disease. https://medicalxpress.com/news/2026-09-sex-chromosomes-lifelong-health-biological.html Thu, 01 Oct 2026 14:00:01 EDT news709986001 A new study by scientists at City of Hope and TGen, part of City of Hope, found surprisingly large differences in the number of mutations present in the organs of healthy individuals. Some study participants had mutation counts similar to those typically found in cancer patients. These results provide an explanation for why some individuals ultimately develop cancer, opening the door to improved approaches to cancer risk assessment and prevention. https://medicalxpress.com/news/2026-10-hidden-mutation-cancer.html Thu, 01 Oct 2026 11:40:01 EDT news710073121 Mitochondria supply cells with energy, and they also play an important role in metabolism. The Institute of Biochemistry and Molecular Biology I at Heinrich Heine University Düsseldorf (HHU) and University Hospital Düsseldorf (UKD) are researching the role of mitochondria in the development of certain diseases. https://medicalxpress.com/news/2026-10-mitochondria-contribute-liver-disease.html Thu, 01 Oct 2026 10:20:21 EDT news710068501 Children with a variant in the SERPINE1 gene—which is found in 60% of the population—may be less responsive to mepolizumab, a drug used to treat asthma flares, according to a study published in the Journal of Allergy and Clinical Immunology. https://medicalxpress.com/news/2026-09-children-common-genetic-variant-inflammation.html Thu, 01 Oct 2026 05:00:01 EDT news709907859 Scientists have identified thousands of genetic differences that change a person's risk of disease, but working out how they actually affect biology—an important step toward creating new treatments—has been much more challenging. One reason is that many of the genetic variants associated with disease aren't found in genes themselves, but within the vast stretches of DNA that regulate gene activity. https://medicalxpress.com/news/2026-09-atlas-immune-cells-genetic-variants.html Wed, 30 Sep 2026 16:00:12 EDT news709998601 A new study from the University of Missouri offers hope for those who are at significantly higher risk of developing Alzheimer's disease later in life. https://medicalxpress.com/news/2026-09-higher-alzheimer-disease.html Wed, 30 Sep 2026 09:20:18 EDT news709974302 A new report has revealed critical gaps in the care of Australian children with a preventable pediatric disorder that can lead to premature cardiovascular disease (CVD). Familial hypercholesterolemia (FH) is a common genetic disorder that affects how the body processes low-density lipoprotein cholesterol (LDL-C) from birth and significantly increases the risk of heart disease and early heart attacks in adulthood. https://medicalxpress.com/news/2026-09-children-heart-disease-gaps.html Wed, 30 Sep 2026 08:20:02 EDT news709968061 First-degree relatives—parents, siblings and children—of cancer patients who received personalized support and navigation services throughout the genetic testing process were significantly more likely to receive genetic testing themselves. Nearly half of those relatives carried a BRCA1 or BRCA2 mutation associated with a higher risk of cancer, according to a new study by researchers at The University of Texas MD Anderson Cancer Center. https://medicalxpress.com/news/2026-09-personalized-genetic-hereditary-cancers-family.html Wed, 30 Sep 2026 07:40:15 EDT news709963621 Spatial transcriptomics (ST) shows which genes are being expressed and where within a tissue. Spatial metabolomics (SM), on the other hand, maps the location of metabolites—small molecules produced or used by cells—within tissue. https://medicalxpress.com/news/2026-09-platform-gene-metabolites-tissue-sample.html Tue, 29 Sep 2026 16:40:05 EDT news709913821 A study from Karolinska Institutet shows that genetic testing can identify germline predisposition underlying childhood leukemia. The findings, published in Nature Communications, could help enable more personalized treatment and long-term follow-up. https://medicalxpress.com/news/2026-09-inherited-genetic-factors-childhood-leukemia.html Tue, 29 Sep 2026 15:00:02 EDT news709902597