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Clinical genetics news
Novel mouse model reveals the mechanisms of a rare genetic encephalopathy
A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse ...
2 hours ago
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New gene discovery could help identify better stem cell donors
Research from stem cell charity Anthony Nolan, published in Transplantation and Cellular Therapy, has revealed that 1 in 50 people studied has an "especially useful" gene variant that could make them a particularly desirable ...
3 hours ago
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A stubborn medical mystery: Insights into signs and origins of a disorder that causes overly flexible joints
Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected ...
21 hours ago
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Two protective genetic pathways may converge to reduce Alzheimer's disease risk
Alzheimer's disease is the most common form of dementia worldwide. Although the APOE ε4 allele is the strongest genetic risk factor for late-onset Alzheimer's disease, not all carriers develop dementia, indicating that other ...
22 hours ago
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Social context matters when studying the genetics of social behavior
Social behavior is heritable but heterogeneous. A mother reporting on her toddler learning to share, a teacher observing a schoolchild navigating friendships and peer relations, and a teenager describing their own social ...
22 hours ago
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Base editing corrects mutation and slows motor neuron disease in mouse model
In a study published in Molecular Therapy Advances a team of researchers led by Professor Haruhisa Inoue (Center for iPS Cell Research and Application, Kyoto University) and Professor Yuishin Izumi (Tokushima University) ...
23 hours ago
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A tiny worm helps scientists unravel a genetic clue to kidney disease
A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease. By making a precise change in the roundworm's DNA and following the ...
Sep 21, 2026
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Rare genetic variant identified as new cause of neurodevelopmental disorders
Researchers at Baylor College of Medicine and Texas Children's Hospital's Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic change that appears to cause a newly recognized neurodevelopmental ...
Sep 21, 2026
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Study reveals surprising cause of immune challenges in people with Down syndrome
Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care.
Sep 20, 2026
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Gene that drives blood cancer drug resistance uncovered with new CRISPR activation tool
Researchers have uncovered a previously unknown gene that causes resistance to a leading blood cancer drug, as well as several genes that accelerate lymphoma growth, using a powerful new CRISPR activation library.
Sep 18, 2026
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Million-cell map of hypertrophic cardiomyopathy could pave the way for precision treatments
An international team led by researchers from Harvard Medical School, Brigham and Women's Hospital, and the Max Delbrück Center for Molecular Medicine in Germany has created a detailed map of the molecular activity underlying ...
Sep 18, 2026
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Autism-risk mutations reveal two opposing patterns of brain gene activity
Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these diverse genetic changes affect the brain in entirely different ways, or do they converge on shared biological ...
Sep 17, 2026
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Rare inherited EGFR mutation linked to dramatically increased lung cancer risk
A rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene is associated with a 25-fold increased risk of lung cancer, according to a study by investigators at Dana-Farber Cancer Institute and 23andMe Research ...
Sep 17, 2026
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Big data analysis sheds light on psoriasis's genetic code
A research team from South Korea has revealed the specific mechanisms behind the onset of psoriasis by combining large-scale genomic data from more than 1.1 million people with advanced single-cell analysis technology. The ...
Sep 17, 2026
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Tumor profiling reveals enzyme as a candidate target in aggressive brain cancer
Researchers at the Icahn School of Medicine at Mount Sinai and collaborators have identified candidate treatment targets and potential prognostic markers for high-grade glioma, an aggressive brain cancer, in children, adolescents ...
Sep 17, 2026
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New findings shed light on rare newly identified TCF7L2-related neurodevelopmental disorder
Researchers have completed the largest study to date of TCF7L2-related neurodevelopmental disorder (TRND), a rare genetic condition caused by changes in the TCF7L2 gene, which plays an important role in brain development. ...
Sep 17, 2026
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Genetic risk for PTSD may vary depending on the type of trauma experienced, large study suggests
A study reveals that your genes may make you more vulnerable to post-traumatic stress disorder (PTSD) from certain types of trauma—particularly childhood neglect—than from others.
Sep 16, 2026
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Neuron cell bodies switch gene programs to steer growing axons, study finds
A new discovery by neuroscientists at Brown University's Carney Institute for Brain Science challenges long-held beliefs in neurobiology about how neurons extend axons to reach their targets.
Sep 15, 2026
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How myth-busting science changed cerebral palsy
Research from Adelaide continues to play a major role in changing the world's understanding of cerebral palsy, tracing its causes back to genetics and reducing costly litigation against obstetricians. Leading Adelaide University ...
Sep 15, 2026
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Scientists uncover why some Huntington's disease patients decline years earlier
A new study has revealed why some people with Huntington's disease develop symptoms 10–12 years earlier and experience a more aggressive form of the disease.
Sep 14, 2026
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FMN1 gene is essential for hearing, study reveals
A new study has identified FMN1 as a gene required for hearing in both humans and mice, revealing a previously unknown role for formin-1 in maintaining the microscopic cellular architecture of the inner ear. The findings ...
Sep 14, 2026
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Hidden proteins in 'non-coding' RNA may offer new clues to cancer progression
Scientists have long believed that large stretches of our genetic material, known as long noncoding RNAs (lncRNAs), help regulate genes but do not produce proteins. A new study by Stav Zok and Professor Michal Linial from ...
Sep 14, 2026
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New framework identifies 108 lysosomal disorders, nearly doubling recognized conditions
Lysosomal disorders can have devastating effects on patients but findings from a University of Sheffield-led collaborative study could support more precise diagnosis and help researchers identify shared targets for future ...
Sep 14, 2026
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Pharmacogenomics: How your genes could help doctors choose the right medicine and dose
Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes.
Sep 14, 2026
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Shedding new light on DNA repair in early human embryos, with implications for gene editing
Treating inherited diseases is one of the greatest challenges in modern medicine. In the future, targeted gene corrections at the earliest stages of embryonic development could help prevent certain inherited diseases from ...
Sep 12, 2026
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