The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health ...
Jun 14, 2012
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A Yale-led team of researchers has identified the gene that, when mutated, causes a devastating early-onset disorder in babies known as "malignant migrating partial seizures of infants," or MMPSI. The study appears online ...
Oct 24, 2012
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An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery ...
Sep 19, 2012
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Research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability.
Feb 11, 2019
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(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure ...
Aug 30, 2012
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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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Yale School of Medicine researchers have discovered a protein that is the missing link in the complicated chain of events that lead to Alzheimer's disease, they report in the Sept. 4 issue of the journal Neuron. Researchers ...
Sep 4, 2013
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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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The lab of Yongchao Ma, Ph.D., from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago, discovered how the genetic defect in fragile X syndrome—a type of autism—delays ...
Jul 23, 2019
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Children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may benefit from an experimental drug ...
Jul 20, 2011
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