Researchers at Massachusetts General Hospital have identified a key mechanism in X chromosome inactivation, a phenomenon that may hold clues that lead to treatments for certain rare congenital disorders. Their findings, published ...
Jun 12, 2020
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MIT scientists have identified a potential new strategy for treating Fragile X syndrome, a disorder that is the leading heritable cause of intellectual disability and autism.
May 20, 2020
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Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations.
Mar 27, 2020
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Over half of our genomes are made of repeating elements within DNA. In rare cases, these repeats can become unstable and grow in size. These repeat "expansions" cause neurodegenerative diseases such as ALS and dementia as ...
Feb 17, 2020
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A new stand-alone test can more precisely diagnose people with a common genetic cause of autism than the current testing regime.
Oct 28, 2019
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Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...
Oct 3, 2019
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It was long believed the FMR1 premutation—an excessive number of trinucleotide repeats in the FMR1 gene—had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the ...
Aug 21, 2019
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Children with an inherited form of intellectual disability and autism could be helped by a medicine commonly used to lower cholesterol, if used early in life.
May 29, 2019
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Researchers at Emory University School of Medicine have gained insight into a feature of fragile X syndrome, which is also seen in other neurological and neurodevelopmental disorders.
Feb 8, 2019
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Using a genetic technique that allows certain neurons in the brain to be switched on or off, UCLA scientists reversed a sensory impairment in mice with symptoms of autism, enabling them to learn a sensory task as quickly ...
Sep 25, 2018
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