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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.

2018 IDDRC Support Projects: Genetics Core

    B C D E F
Principal
Investigator
Grant Number and Title Translational Genetics Neuroscience Neuroimaging Behavior
Bjornsson DP5 OD017877: Exploring Kabuki Syndrome as a treatable cause of intellectual disaiblity   X      
Bjornsson DP5 OD017877: Exploring Kabuki Syndrome as a treatable cause of intellectual disaiblity   X      
Cayton Vaught Edward E. Wallach Research Fellowship Grant and UM1 HG006542: Demystifying Unexplained Recurrent Pregnancy Loss Through Next Generation Sequencing Technologies   X      
Cutting R01 DK044003: Molecular genetics of cystic fibrosis: Creation and characterization of an airway epithelial cell line for stable expression of exogenous genes    X      
Harris Rubenstein Taybi Syndrome Foundation: Characterizing the Neurocognitive and Neurophysiologic Phenotype of Rubinstein-Taybi Syndrome X X     X
Hoover-Fong/Gunay-Aygun 03-HG-0264, NCT00068224: Clinical and Molecular Investigations into Ciliopathies   X      
Johnston 2K12 NS001696: Neurology Sciences Academic Development Award (NSADA) X X      
Kamiya/Pletnikov R01 DA041208: Molecular Mechanism of Astrocytic Vulnerability to Adolescent Cannabis Use        X      

Lee

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

Maegawa

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

Naidu

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

Pevsner

U01 MH106884: Role of somatic mosaicism in autism, schizophrenia and bipolar disorder brain   X      
Pevsner UL1-TR001079 (NBRU): DNA in Children with Developmental Disabilities   X      
Pletnikov R01 MH083728: DISC1 in Neuron-Astrocyte Interactions in Neurodevelopment    X      
Schupf/Lott/Silverman U01 AG051412: Biomarkers of Alzheimer’s disease in adults with Down syndrome X X   X X
Valle UM1 HG006542: Baylor-Johns Hopkins Center for Mendelian Genetics X X      
Vernon K08HD073492: Metabolic studies in disorders of branch chain amino acid metabolism   X X    
Wang R21NS085358: DHHC 15 palmitoylation modulates striatal dopamine system    X      
Watkins R21NS091988: Drug Discovery for X-Linked Adrenoleukodystrophy    X X    
Xia 5R01NS091165: Effect of IDH1 Mutation on Chromosome Instability   X X