Co-Director, Molecular Diagnostics Section of the Genetic Laboratory
Professor,
Department of Pediatrics,
RUSH Medical College
Education
MD, University of Chicago Pritzker School of Medicine
Research Areas
Fragile X syndrome, genotype-phenotype studies of neurodegenerative and neurogenetic diseases, risk factors for neurodegenerative and neurogenetic diseases
Contact Info:
1725 W. Harrison St.
Suite 710
Chicago, IL 60612
Phone: (312) 942-4036
Fax: (312) 942-4168
NIH RO1HD071987, Decisional Capacity and Informed Consent in Fragile X Syndrome, Consultant
NIH NCT01525901/U54 NS092090-01, Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations, Co-PI
NIH 1R01HD076189-01A1, A Cognitive Test Battery for Intellectual Disabilities, Co-Investigator
NIH 1RO1HD074346-01A1, Expressive Language Sampling as an Outcome Measure, Co-Investigator
NIH RO1 MH091131, A Family Genetic Study of Autism and Fragile X Syndrome, Co- Investigator
CDC 1U01 DD001186-01, Using Longitudinal Data to Characterize the Natural History of Fragile X Syndrome: Component C, Principal Investigator
CDC 1 U01 DD001189-01, Using Longitudinal Data to Characterize the Natural History of Fragile X Syndrome: Component A, Consultant
NCT02534844, A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of 2-hydroxypropyl-_-cyclodextrin (VTS-270) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease, Principal Investigator
NCT01911455, Acamprosate in Fragile X Syndrome”, Co-PI
Neurodevelopmental Disorders Research Registry, Principal Investigator
Neurological Phenotype in FMR1 Premutation Carriers, Principal Investigator
Intrathecal 2-Hydroxypropyl-_-cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1, Principal Investigator
Electrophysiological Biomarkers of Phelan-McDermid Syndrome, Principal Investigator