MeSH tree: C10.597.606.360.455
Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have gained new insights into the molecular changes leading ...
Dec 16, 2024
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Researchers at Children's Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a single gene mutation. The ...
Nov 19, 2024
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A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls. The research reveals how this condition affects males and females differently, with symptoms ...
Oct 18, 2024
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Rett syndrome is a X-chromosome-linked neurodevelopmental disorder; it can lead to loss of coordination, mobility, ability to speak, and use of the hands, among other symptoms. The syndrome is typically caused by mutations ...
Sep 9, 2024
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One particular protein lies at the heart of brain development. A master regulator of gene expression, it's abundantly present in neurons, and its dysfunction underlies Rett syndrome, a neurological disorder that could lead ...
Aug 26, 2024
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A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide.
Jul 31, 2024
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An experimental cancer drug could make thinking easier for individuals with Rett syndrome, a rare disorder linked to autism, according to new research from the University of California San Diego—a discovery that could lead ...
Jul 25, 2024
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Studies of mouse models of Fragile X syndrome and Phelan-McDermid syndrome show that treatment with cannabidiol (CBD) and the diabetes drug metformin can alleviate behavioral difficulties, according to research presented ...
Jun 25, 2024
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Rett syndrome is a rare neurodevelopmental disorder for which there is currently no cure or good therapy. It causes severe physical and cognitive symptoms, including many that overlap with autism spectrum disorder.
May 2, 2024
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A study in mice suggests how chromosome inactivation may protect girls from a type of autism disorder inherited from their father's X chromosome.
Apr 30, 2024
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