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Clinical genetics news
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 ...
4 hours ago
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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 ...
8 hours ago
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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 ...
10 hours ago
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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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How schizophrenia risk may begin: Gene changes reshape signaling in developing neurons
Researchers at King's College London have identified the biological nature and timing of changes in human cortical neurons caused by altering activity of a schizophrenia-associated gene in developing human neurons. This discovery ...
May 20, 2026
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Why does ALS pathology spread differently among patients?
A research team at the Brain Research Institute, Niigata University has found that APOE ε4, a genetic factor best known for increasing the risk of Alzheimer's disease, may also influence how pathological changes spread in ...
May 20, 2026
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A DNA-organizing protein offers new insight into infertility, IVF and generational health
The causes of male infertility can be hard to diagnose, with many tests failing to detect genetic defects. Sometimes, infertility doesn't even involve the genes themselves. It can arise from improper folding of the father's ...
May 19, 2026
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Researchers map genetics of blood lipids with unprecedented precision
DZNE researchers have generated new insights into how the human genome shapes the chemical composition and concentration of blood lipids. Across the genome, they identified more than 50 regions whose relevance to lipid metabolism ...
May 19, 2026
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'Jumping gene' helps explain elevated pancreatic cancer risk in French-Canadians
Researchers at McGill University have discovered a centuries-old genetic mutation that helps to explain why some French‑Canadians in Quebec are at an elevated risk of pancreatic cancer. Until quite recently, standard genetic ...
May 19, 2026
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New drug target identified for Fragile X syndrome
UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly one in 2,000 boys.
May 18, 2026
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