MeSH tree: C16.320.400.525
Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are born with it and much fewer boys. It is caused by mutations in the MeCP2 gene on the X chromosome, ...
Jul 2, 2025
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Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. The ...
Jun 12, 2025
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When we hear the word "dementia," we usually think of memory loss in older adults. But there's another, much rarer form of the disease that strikes far earlier in life—childhood dementia, also known as Batten disease.
May 12, 2025
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A team of pharmaceutical researchers at Novartis Biomedical Research, working with an international team of associates, has found that the drug mavoglurant can reduce use in people with cocaine use disorder. In their study, ...
Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year of age, with loss of acquired language and motor skills and leading to profound cognitive impairment. ...
Feb 20, 2025
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Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused ...
Feb 20, 2025
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Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published in the journal Nature. Unstable proteins ...
Jan 8, 2025
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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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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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