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Clinical genetics news
Children with preventable heart disease being missed through gaps in care
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 ...
4 hours ago
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Personalized support increases genetic testing for hereditary cancers among immediate family members
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 ...
5 hours ago
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Research offers new hope for those at higher risk of Alzheimer's disease
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.
3 hours ago
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Low-cost platform maps gene activity and metabolites in the same tissue sample
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 ...
20 hours ago
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Study identifies inherited genetic risk factors in childhood leukemia
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 ...
22 hours ago
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New genetic testing guidance could improve patient diagnosis worldwide
New guidance co-led by University of Otago researchers could help more people with suspected inherited diseases receive a clear genetic diagnosis.
23 hours ago
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Gene editing approach opens potential new route to Alzheimer's treatment
Dr. Kevin Kemp and his research team at the University of Bristol have converted the high-risk Alzheimer's gene APOE4 into the lower-risk APOE3 gene.
Sep 29, 2026
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How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, ...
Sep 28, 2026
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AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene ...
Sep 28, 2026
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DNA sequencing test finds answers for patients with inherited muscle disease
A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. ...
Sep 25, 2026
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New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.
Sep 25, 2026
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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. ...
Sep 24, 2026
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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 ...
Sep 24, 2026
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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 ...
Sep 24, 2026
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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.
Sep 24, 2026
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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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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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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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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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