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Clinical genetics news
Genetic testing allows fast diagnosis of rare pancreatic condition in 98% of babies
The DNA changes responsible for a rare genetic condition causing babies to be born without a pancreas can now be identified in almost all affected children through genetic testing. That's according to a new study from the ...
2 hours ago
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TP53 gene mutations affect lung cancer treatment response, study shows
Lung cancer is the most common and deadly form of cancer worldwide. It is increasingly understood to be a complex genetic disease with different mutations that vary according to factors such as smoking and ethnicity. These ...
5 hours ago
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Gestational diabetes shares strong genetic links with type 2 diabetes
New evidence has emerged showing that diabetes developed during pregnancy is likely an early manifestation of type 2 diabetes, triggered by the stresses pregnancy places on the body. In the largest study of its kind, University ...
3 hours ago
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Workout habits may protect against inherited heart problems, findings suggest
Folks who regularly exercise can lower their risk of heart attack and heart failure linked to a genetic heart condition, a new study says. People with higher levels of moderate to vigorous physical activity had lower rates ...
2 hours ago
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Breast cancer risk models fall short for women with family history, study finds
Researchers from Trinity College Dublin, St James's Hospital, and collaborating institutions have carried out the most comprehensive review to date of tools used to estimate breast cancer risk in women with a family history ...
12 hours ago
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First comprehensive look at breast cancer in Native American women reveals key genetic differences
Researchers from the University of Notre Dame have published the first known detailed study of breast cancer tissue from Native American women. The study, published in npj Precision Oncology, reveals important molecular differences ...
May 31, 2026
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Scientists uncover how Alzheimer's may quietly begin years before memory loss appears
A new Columbia study has found clues of Alzheimer's beginnings, revealing how tau filaments—protein clumps that are closely linked to memory decline in Alzheimer's disease—get their start. The finding raises the prospect ...
May 29, 2026
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Researchers uncover a substantial genetic component to postpartum psychosis
Researchers at the Icahn School of Medicine at Mount Sinai have uncovered a substantial genetic component to postpartum psychosis, a rare but severe psychiatric illness that occurs in the days to weeks after childbirth. The ...
May 29, 2026
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RNA therapy for genetic heart failure moves closer to patients after lab gains
Using patient-derived cardiac tissue and stem cell-based models, the team of translational researchers demonstrated that targeting the genetic cause of disease improved cellular abnormalities and identified the biological ...
May 29, 2026
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Rare DNA variants reveal new metabolic links in one of the largest analyses yet
Led by University of Tartu researchers, the largest and most comprehensive study to date has been completed on how genetic differences between individuals influence metabolism. Published in Nature, the study provides a far ...
May 28, 2026
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Brain aging reveals rising transposon RNAs, with distinct shifts in Huntington's and Parkinson's
Transposable elements (TEs), also called transposons, are DNA sequences capable of moving or replicating from one location to another within a genome. While TEs are the most significant fraction of the human genome (approximately ...
May 28, 2026
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Extreme trait values may trace to rare genes with outsized effects, analysis suggests
Researchers at the Icahn School of Medicine at Mount Sinai have found evidence that people who fall at the extreme high or low ends of certain traits, such as cholesterol, blood glucose, height, and age at menopause, are ...
May 27, 2026
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Schwann cells may trigger NF1 pain before tumors appear, mouse study suggests
Researchers at Cincinnati Children's have identified a potential new way to relieve chronic pain linked to neurofibromatosis type 1 (NF1), a genetic condition best known for causing tumors to grow along nerves. The new findings ...
May 27, 2026
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New genetic map of the human eye reveals clues to vision loss
An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic differences shape the way the human eye works. The breakthrough could help explain why millions of ...
May 26, 2026
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AI model links tumor mutations to treatment response
Researchers at University of California San Diego have developed a new artificial intelligence (AI) model that can translate a tumor's complex genetic profile into predictions about how that cancer may respond to treatment. ...
May 26, 2026
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When bariatric surgery may lower cancer risk: Insulin, sex and genes offer new clues
Substantial and sustained weight loss has been linked to a reduced risk of cancer and cancer-related death, mainly in women. Two new studies now provide clues to why the risk is reduced—and suggest that gender, metabolism ...
May 25, 2026
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DNA repair protein gene gone rogue may unlock new cancer treatments
When it comes to cancer, tumor suppressor genes are usually thought of as the "good guys." These genes make proteins that protect and repair DNA in cells. If they stop functioning or there's not enough, cancer risk goes up. ...
May 24, 2026
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How a father's obesity affects his children's metabolism
The scientific literature already contains robust evidence that obesity, whether maternal or paternal, can lead to metabolic changes in offspring that increase their risk of developing diseases. A new study published in the ...
May 22, 2026
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Genetic clues may reveal which rare solitary fibrous tumors are more aggressive, likely to spread
Specific genetic fusion patterns in solitary fibrous tumors may help identify which patients face a higher risk of metastasis, recurrence and more aggressive disease behavior, according to new research that could improve ...
May 22, 2026
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Key gene boundary discovery may improve treatment of rare inflammatory disorder
Not all broken genes fail in the same way: some simply stop working, while others interfere with what still works. Researchers from Hiroshima University have identified a critical boundary within the immune-regulating gene ...
May 22, 2026
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'Origami' method could speed up diagnosis of neurodegenerative disease
Researchers have developed a technique that can identify errors caused by mutations linked to a range of genetic disorders, including forms of muscular dystrophy, Huntington's disease and amyotrophic lateral sclerosis (ALS), ...
May 21, 2026
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AI uses everyday language to make genetic diagnosis easier
A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using everyday language. The study, ...
May 21, 2026
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Sudden cardiac arrest: Genetic cause more common in younger people than in older people
Younger people who experience sudden cardiac arrest are more likely to have a genetic cause than older people who experience it, according to the Smidt Heart Institute at Cedars-Sinai. The study, published in JACC: Clinical ...
May 21, 2026
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Linking lysosomal dysfunction to severe neurological disorders
A new study has identified mutations in a single gene as the cause of a previously unrecognized spectrum of severe neurological disorders ranging from fatal prenatal conditions to progressive neurodegenerative disease in ...
May 21, 2026
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Strong genetic mutation overrides female protective effects in autism, researchers discover
Autism spectrum disorder affects males far more frequently than females, with diagnoses occurring roughly four times more often in boys. Scientists have long suspected that females may possess biological protective mechanisms ...
May 20, 2026
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