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IDDRC Genetics Core Supported Studies and Investigators

The Genetics Core historically supports approximately 20 – 30 studies annually. However, support has been expanding in recent years as ever more powerful methods have become available, and this trend is predicted to continue. The following list contains a summary of current studies supported by the Genetics Core.

Genetics Core

Bjornsson, Hans P50D017877, Exploring Kabuki Syndrome as a treatable cause of intellectual disaiblity
Crawford/Butchbach/Shaffer P20GM103464, Center for Pediatric Research: Identification of PSP neuroprotective compounds as SMN2 inducers
Gipson 2K12NS001696, Rapalogues for Autism Phenotype in TSC (RAPT)
Lee R01NS093213, Cell extrinsic factors’ roles on direct conversion to human induced neural crest
Maegawa R01NS079655, Development of an HTS assay for a neurological lysosomal disease 


U01MH106884, Role of somatic mosaicism in autism, schizophrenia and bipolar disorder brain
Valle U54HG006542, Baylor-Johns Hopkins Center for Mendelian Genetics


K08HD073492, Metabolic studies in disorders of branch chain amino acid metabolism

Wang, Tao

R21NS085358, DHHC 15 palmitoylation modulates striatal dopamine system 
Watkins R21NS091988, Drug discovery for X-linked adrenoleukodystrophy