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.

 

Principal
Investigator

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