Autor: Clinical genetics
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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), which could accelerate accu…
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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), which could accelerate accu…
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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, conducted by researchers a…
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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, conducted by researchers a…
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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 amyotrophic lateral sclerosis …
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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 amyotrophic lateral sclerosis …
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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 links a genetic risk f…
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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 links a genetic risk f…
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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 that reduce vulnerability …
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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 that reduce vulnerability …