Intellectual Developmental Disabilities Research Center

Genetics Core: 2018 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.



Grant Number and Title Clinical Translational Core Genetics Core Translational Neuroscience Core Neuroimaging Core Behavior Science Core
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