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Clinical genetics news
'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), ...
3 hours ago
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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 ...
2 hours ago
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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, ...
7 hours ago
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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 ...
2 hours ago
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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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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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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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Machine learning reveals common genetic cause behind unexplained peripheral neuropathy
Researchers at WashU Medicine and collaborating institutions have developed a novel computational tool that can accurately identify a genetic problem in a gene called RFC1 that is linked to certain forms of peripheral neuropathy. ...
May 18, 2026
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Open-access tool decodes DNA change patterns in breast cancer
A study led by Dr. Jason Pitt, Principal Investigator at the Cancer Science Institute of Singapore (CSI Singapore), has identified eight new "signatures" of DNA patterns (gains and/or losses) in breast cancer. By analyzing ...
May 18, 2026
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Longevity-linked APOE2 gene variant helps neurons repair DNA and resist aging
People who carry the APOE2 version of the apolipoprotein E gene are more likely to live to advanced age and are partly protected against Alzheimer's disease, but scientists have struggled to explain why. A new study from ...
May 17, 2026
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Understanding alternating hemiplegia of childhood, a rare disorder
For families of children born with alternating hemiplegia of childhood, the questions begin almost immediately: Will it get worse? How long do we have? What should we prepare for? The clearest answers yet are emerging and ...
May 17, 2026
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New reporting system aims to ensure accuracy and rigor of mouse models after widespread mismatches
Backed by new research findings, researchers at the UNC School of Medicine have developed a new reporting system that will allow researchers across the United States to confirm the genetic accuracy of their mouse models.
May 15, 2026
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MYH9 gene may help explain heart artery plaques more often seen in women
Researchers at UCLA Health have identified a key gene that may help explain why women are more likely than men to develop a certain type of artery plaque linked to heart disease.
May 15, 2026
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Your address, ancestry and gut may be steering aging in ways medicine has barely begun to map
Researchers at the Stanford School of Medicine have found that ethnicity and geography may influence human molecular makeup—from metabolism and immunity to gut microbiota and biological aging. The findings, published in Cell, ...
May 14, 2026
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Genes give neurons a 'GPS' to form the brain's neural circuits, scientists show
How complex neural circuits are genetically designed and wired is a fundamental question in neuroscience. Scientists have shown for the first time that genes encode a "wiring map" that guides neurons to connect with the correct ...
May 14, 2026
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Drug trial finds that a treatment shift is needed for brittle bone disease
Increasing bone density in patients with a rare genetic condition that causes bones to break easily does not prevent fractures, a large clinical trial has found. Patients with brittle bone disease who were given treatments ...
May 14, 2026
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Hidden genetic defect linked to Kaposi sarcoma for the first time
A new study has uncovered a genetic cause that may explain why some people develop Kaposi sarcoma despite having no apparent immune deficiency. The rare cancer, which forms in the cells lining blood vessels, is caused by ...
May 14, 2026
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Novel tool enables high-precision, low-cost pediatric leukemia diagnostics
Researchers have introduced a novel diagnostics method that can more sensitively detect gene fusions in B-cell acute lymphoblastic leukemia (B-ALL), the most common type of pediatric cancer, compared to other publicly available ...
May 14, 2026
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Genetic research could help patients avoid amputations
Physicians may one day be able to identify which patients with peripheral artery disease are most likely to develop complications and intervene earlier, thanks to a Northeastern University discovery. Peripheral artery disease ...
May 14, 2026
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Study finds one in eight adults carries hidden genetic risk—and reveals what it takes to act on it
When Mayo Clinic researchers sequenced the genomes of 484 seemingly healthy adults, they found that about 13% carried a serious, previously unrecognized genetic risk—conditions those patients did not know about and that standard ...
May 14, 2026
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Non-coding gene is linked to core social and behavioral traits in autism
A long-overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviors that define autism spectrum disorder (ASD), without affecting learning or other cognitive ...
May 13, 2026
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