https://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on science including: Physics, Nanotechnology, Life Sciences, Space Science, Earth Science, Environment, Health and Medicine. Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder. https://medicalxpress.com/news/2026-01-dose-base-pkd1-mutation-survival.html Thu, 29 Jan 2026 13:48:41 EST news688916862 UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights into the ways diverse genetic causes may lead to shared features and symptoms of the disorder. https://medicalxpress.com/news/2026-01-autism-mutations-diverse-genes-converge.html Wed, 28 Jan 2026 11:00:10 EST news688814101 Researchers at the University of Twente and Radboudumc are developing a promising new model to enhance understanding of the human retina. They are developing a retina-on-a-chip, in which the three main layers of the retina will eventually be combined. The first two layers have now been successfully integrated, and work on the third is underway. This combination has not been achieved before. The goal is to better understand the causes of eye diseases and to test new treatments. https://medicalxpress.com/news/2026-01-retina-chip-perspectives-rare-eye.html Tue, 27 Jan 2026 17:01:30 EST news688755662 Proteins circulating in the blood can reveal what's happening in the body, from how we process energy to how diseases develop. Unlike genetic testing, which shows fixed risk factors from birth, protein analysis provides a real‐time picture of health and disease. https://medicalxpress.com/news/2025-12-key-protein-ace2-high-blood.html Fri, 19 Dec 2025 13:46:59 EST news685374370 Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of disease those mutations may trigger. https://medicalxpress.com/news/2025-12-ai-tool-genetic-mutations-diseases.html Mon, 15 Dec 2025 05:00:10 EST news684759542 To our immune system, a potentially lifesaving gene therapy can look a lot like a dangerous infection. That's because most genetic medicine uses viruses or double-stranded DNA to deliver genetic information to target cells. DNA in its traditional double helix form can lead to toxic immune stimulation and be difficult to package into cellular delivery vehicles. As a result, the reach of genetic medicine is limited today. https://medicalxpress.com/news/2025-12-circular-stranded-dna-molecules-safer.html Sat, 13 Dec 2025 15:40:01 EST news684769016 In research, induced pluripotent stem (iPS) cells are derived from skin, urine, or blood samples and developed into other cells, like heart tissue, that researchers want to study. Because of the similarities between certain dog and human diseases, canine iPS cells have potential uses in regenerative medicine and drug discovery.　 https://medicalxpress.com/news/2025-11-stem-cell-medium-canine-heart.html Fri, 21 Nov 2025 12:35:03 EST news682950901 The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals with rare diseases who remain undiagnosed after clinical testing – to solve the unsolved. Baylor College of Medicine is one of five clinical sites in the consortium. https://medicalxpress.com/news/2025-11-consortium-advancing-diagnostics-rare-diseases.html Fri, 21 Nov 2025 08:41:03 EST news682936862 Every year, millions of lives are suddenly, swiftly transformed by a stroke, which occurs when a blood vessel traveling towards the brain becomes obstructed, causing neurons to die off. Strokes are among the leading causes of disability in adults, and it is estimated that 1 in 6 people will suffer one at some point in their lives. https://medicalxpress.com/news/2025-11-stem-cell-therapy-regenerate-brain.html Wed, 19 Nov 2025 09:43:06 EST news682767782 Doctors and scientists reported a case of Seoul virus infection in a woman. The Seoul virus belongs to the hantavirus family and can be transmitted by rats. In their publication of the case in the journal Emerging Infectious Diseases, the experts recommend better screening and improved hygiene practices in private rat breeding facilities. They also advocate for raising public awareness of zoonoses, which are diseases that can be transmitted from animals to humans. https://medicalxpress.com/news/2025-10-rare-virus-transmitted-rats-infects.html Tue, 21 Oct 2025 16:29:04 EDT news680282942 When immune cells strike, precision is everything. New research reveals how natural killer and T cells orchestrate the release of toxic granules—microscopic packages that destroy virus-infected or cancerous cells. https://medicalxpress.com/news/2025-10-immune-cells-deadly-cargo-unexpected.html Fri, 17 Oct 2025 14:00:01 EDT news679913162 Thanks to in-utero blood transfusion technology, what was once a fatal diagnosis in the womb can now result in live births. However, this medical advancement created a new challenge: a growing population of children born with that diagnosis—the severe, inherited blood disorder alpha thalassemia—which requires lifelong specialized care. https://medicalxpress.com/news/2025-09-gene-therapy-lifelong-transfusions-rare.html Thu, 18 Sep 2025 11:47:04 EDT news677414821 EPFL scientists have shown that a gene linked to a rare childhood disease is essential for regenerating intestinal stem cells after injury. https://medicalxpress.com/news/2025-09-gene-rare-disorder-crucial-intestinal.html Tue, 09 Sep 2025 14:48:03 EDT news676648081 Cancer treatment is becoming more personalized. By considering a patient's unique genetic and molecular profile, along with their lifestyle and environmental factors, doctors can make more accurate treatment decisions. This approach, known as personalized or precision medicine, has been increasingly used in South Africa and has expanded to other African countries in recent decades. It requires doctors to rely more on genetic tests to guide decisions. But these tests don't always give clear answers. Functional genomics may offer a way to improve the interpretation of unclear genetic test results. We spoke to physiological scientist Claudia Christowitz about it. https://medicalxpress.com/news/2025-09-genetic-cancer-uncertain-results-science.html Wed, 03 Sep 2025 12:32:05 EDT news676121522 When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai have developed a powerful new way to determine whether a patient with a mutation is likely to actually develop disease, a concept known in genetics as penetrance. https://medicalxpress.com/news/2025-08-ai-lab-combine-disease-rare.html Thu, 28 Aug 2025 14:04:04 EDT news675608641 A collaboration among Rice University, Baylor College of Medicine and Texas Children's Hospital's Jan and Dan Duncan Neurological Research Institute (NRI) has produced a breakthrough in how to study and classify complex diseases. https://medicalxpress.com/news/2025-08-statistical-tool-reveals-hidden-genetic.html Wed, 20 Aug 2025 15:42:25 EDT news674923332 AI-based medicine will revolutionize care, including for Alzheimer's and diabetes, predicts a technology expert, but it must be accessible to all patients. https://medicalxpress.com/news/2025-08-human-doctors-ai-health-revolution.html Fri, 01 Aug 2025 06:16:29 EDT news673247783 Exposure to a class of synthetic chemicals known as per- and polyfluoroalkyl substances (PFAS)—often called "forever chemicals"—may increase the risk of developing type 2 diabetes, according to a new study led by Mount Sinai researchers. The findings were published in eBioMedicine. https://medicalxpress.com/news/2025-07-links-chemicals-diabetes.html Mon, 21 Jul 2025 18:30:01 EDT news672298859 In a discovery that could reshape approaches to regenerative medicine and bone repair, researchers have found that human stem cells can be prompted to begin turning into bone cells simply by squeezing through narrow spaces. https://medicalxpress.com/news/2025-07-stem-cells-bone.html Tue, 08 Jul 2025 13:35:34 EDT news671200525 Misplaced car keys, forgotten names and other lapses in memory are a normal part of life, especially as you age. However, more serious memory problems can be a sign of cognitive impairment or dementia like Alzheimer's disease. https://medicalxpress.com/news/2025-06-qa-discusses-quest-halt-neurodegenerative.html Wed, 25 Jun 2025 15:11:05 EDT news670083061 The discovery of two new genetic disorders comes from a study delivered through the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Center (BRC) and The University of Manchester and could provide answers for several thousands of people with neurodevelopmental conditions around the world. https://medicalxpress.com/news/2025-06-discovery-genetic-disorders-patients-neurodevelopmental.html Tue, 10 Jun 2025 14:19:52 EDT news668783984 Using a tool called Automated Meiotic Mapping (AMM) that was developed at UT Southwestern Medical Center, a team of researchers has identified a gene that appears to be key to regulating food intake. https://medicalxpress.com/news/2025-06-discovery-gpr45-gene-brain-cilia.html Fri, 06 Jun 2025 14:00:03 EDT news668436085 Researchers at the Else Kröner Fresenius Center (EKFZ) for Digital Health at TUD Dresden University of Technology, in collaboration with partners from Germany, the U.K. and U.S., have developed and validated an autonomous artificial intelligence (AI) agent capable of supporting clinical decision-making in oncology. https://medicalxpress.com/news/2025-06-autonomous-ai-agent-clinical-decisions.html Fri, 06 Jun 2025 12:19:33 EDT news668431161 For decades, gynecologic cancer treatment has used aggressive surgical intervention and chemotherapy. These methods often harmed fertility. They also caused severe side effects and an uncertain prognosis. https://medicalxpress.com/news/2025-06-safeguarding-fertility-gynecologic-cancer.html Tue, 03 Jun 2025 15:40:01 EDT news668183010 Women of African or South Asian genetic ancestry tend to develop breast cancer and die at a younger age than women of European ancestry, according to new research by Queen Mary University of London. The study, which looked at clinical and genetic data from over 7,000 women with breast cancer, also found important genetic differences in these women's cancers that could impact their diagnosis and treatment. https://medicalxpress.com/news/2025-05-ethnic-differences-breast-cancer-outcomes.html Tue, 20 May 2025 12:50:04 EDT news666963897 Screening for common genetic variants in addition to rare genetic variants can help improve patient risk stratification for heart failure, according to a recent study published in Nature Genetics led by investigators at Northwestern University Feinberg School of Medicine and the Perelman School of Medicine at the University of Pennsylvania. https://medicalxpress.com/news/2025-05-common-genetic-variants-heart-failure.html Tue, 06 May 2025 12:50:03 EDT news665754601 New research led by the University of Portsmouth has revealed how Duchenne muscular dystrophy (DMD), best known for causing severe muscle degeneration, also profoundly affects the brain, leading to cognitive and behavioral challenges that are very diverse and some could be reversible. https://medicalxpress.com/news/2025-03-duchenne-muscular-dystrophy-impact-brain.html Fri, 28 Mar 2025 11:58:44 EDT news662381916 Imagine a previously unknown bug—new to our immune defenses—that suddenly emerged and rapidly spread all over the globe, causing the deaths of millions and an economic breakdown due to the interruption of work in virtually every country. https://medicalxpress.com/news/2025-03-early-pandemic-vulnerability-severe-covid.html Thu, 20 Mar 2025 16:04:04 EDT news661705441 University of Florida researchers are addressing a critical gap in medical genetic research—ensuring it better represents and benefits people of all backgrounds. https://medicalxpress.com/news/2025-03-ai-tool-account-ancestral-diversity.html Mon, 10 Mar 2025 10:28:04 EDT news660821281 The latest research led from Manchester could revolutionize the diagnosis of Perrault syndrome, a rare genetic condition that results in hearing loss. In women, it also leads to early menopause or infertility. Perrault syndrome can be accompanied by learning difficulties, developmental delay and nerve damage. https://medicalxpress.com/news/2025-03-genetic-rare-condition-linked-loss.html Wed, 05 Mar 2025 12:15:52 EST news660399349