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Bridge the Gap –The Largest-Ever Study of SYNGAP1 (MRD5)
Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.
Closer than ever to a personalized treatment solution for intellectual disability
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
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Reduced Cognition in Syngap1 Mutants Is Caused by Isolated Damage within Developing Forebrain Excitatory Neurons
http://www.cell.com/neuron/abstract/S0896-6273(14)00401-2
Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
http://www.nejm.org/doi/full/10.1056/NEJMoa0805392
Brain scientists figure out how a protein crucial to learning and memory works ~~Johns Hopkins Medicine
http://www.eurekalert.org/pub_releases/2015-01/jhm-bsf010515.php