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Clinical genetics news
How specific changes in DNA shape human brain structure
Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have ...
16 hours ago
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How the APOE4 gene damages brain blood vessels in Alzheimer's disease
Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer's disease, damages the brain's blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. ...
19 hours ago
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Earlier stem cell transplants may improve survival in rare inherited bone marrow disorder
More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early ...
15 hours ago
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Genetic clues help reveal kids' cancer risk
Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.
22 hours ago
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Large-scale studies create one of the world's most comprehensive single-cell atlases of human brain disease
Research led by Mount Sinai scientists within the PsychAD Consortium, a large-scale, multidisciplinary initiative launched in 2019 with support from the National Institute on Aging (NIA), is featured in a collection of nine ...
Sep 23, 2026
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Cancer's 'rogue DNA' relies on two proteins to prevent and repair breaks
Researchers at Memorial Sloan Kettering Cancer Center (MSK) and their colleagues have discovered that a type of rogue DNA found in aggressive cancers has a hidden structural weakness—and that blocking a single repair protein ...
Sep 23, 2026
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New filters help genetic sequencing flag possible causes of meningitis and encephalitis
New research led by Aston University's Dr. Ghaniah Hassan-Smith has found a new way to diagnose infections of the central nervous system, such as meningitis and encephalitis, that can be difficult to identify using conventional ...
Sep 23, 2026
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Year-old brain organoids reveal astrocytes may fuel early-onset epilepsy
Tiny, year-old human brain organoids that mimic the brain of a newborn are providing new clues to potential treatments for a leading genetic cause of childhood epilepsy that typically manifests as the brain matures shortly ...
Sep 23, 2026
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FDA approves first gene therapy treatment for Sanfilippo syndrome type A
The Abigail Wexner Research Institute at Nationwide Children's Hospital celebrated the Food and Drug Administration's (FDA) approval of FAYUVI for Sanfilippo syndrome type A, following years of research in its Jerry R. Mendell ...
Sep 23, 2026
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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 ...
Sep 22, 2026
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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 ...
Sep 22, 2026
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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 ...
Sep 21, 2026
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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 ...
Sep 21, 2026
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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 ...
Sep 21, 2026
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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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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) ...
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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