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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.

2017 IDDRC Support Projects: Genetics Core

    B C D E F
Principal
Investigator
Grant Number and Title Translational Genetics Neuroscience Neuroimaging Behavior
    4 14 3 1 3
Bjornsson, Hans DP5 OD017877: Exploring Kabuki Syndrome as a treatable cause of intellectual disaiblity   X      
Crawford, Thomas/Butchbach, Matthew E.R./Shaffer, Thomas P20 GM103464: Center for Pediatric Research: Identification of PSP neuroprotective compounds as SMN2 inducers    X      
Cutting, Garry R01 DK044003: Molecular genetics of cystic fibrosis: Creation and characterization of an airway epithelial cell line for stable expression of exogenous genes    X      
Hoover-Fong, Julie/Gunay-Aygun, Meral 03-HG-0264, NCT00068224: Clinical and Molecular Investigations into Ciliopathies   X      
Johnston, Michael 2K12 NS001696: Neurology Sciences Academic Development Award (NSADA) X X     X

Lee, Gabsang

R01 NS093213: Cell extrinsic factors’ roles on direct conversion to human induced neural crest   X      

Maegawa, Gustavo

R01 NS079655: Development of an HTS assay for a neurological lysosomal disease   X      

Naidu, Sakkubai

R01 FD004247: PH2 Study of dextromethorpan in the treatment of Rett syndrome X X X   X

Pevsner, Jonathan

U01 MH106884: Role of somatic mosaicism in autism, schizophrenia and bipolar disorder brain   X   X  
Schupf, Nicole/Lott, Ira/Silverman, Wayne U01 AG051412: Biomarkers of Alzheimer’s disease in adults with Down syndrome X X   X X
Valle, David UM1 HG006542: Baylor-Johns Hopkins Center for Mendelian Genetics X X      
Vernon, Hilary K08HD073492: Metabolic studies in disorders of branch chain amino acid metabolism   X X    
Wang, Tao R21NS085358: DHHC 15 palmitoylation modulates striatal dopamine system    X      
Watkins, Paul R21NS091988: Drug Discovery for X-Linked Adrenoleukodystrophy    X X