Description:

Richard S. Smith, PhD     
Instructor
Harvard Medical School, Department of Pediatrics
Post-Doctoral Research Fellow
Boston Children's Hospital, Division of Genetics and Genomics 
Howard Hughes Medical Institute

Abstract:
Identifying key genes involved in human brain development provides novel insights into biological processes underlying the evolution of the human neocortex as well as the treatment of brain diseases. During prenatal brain development, ion channels are ubiquitous across several cell types, including progenitor cells and migrating neurons but their function has not been clear. Using electrophysiological and modern genetic approaches, we identified contributions of ion conducting proteins to human cerebral cortex development, including recent work highlighting the functional role for a sodium channel subtype (NaV1.3) and a sodium/potassium ATPase pump (Alpha 3) in human neocortical folding. These genetic students and recent in utero animal modeling work suggest that precise control of ionic flux (calcium, sodium, and potassium) contributes to in utero developmental processes such as neural proliferation, migration, and differentiation. Moreover, our ongoing work on novel therapeutic interventions (e.g. anti-sense oligonucleotide therapies) for modulating ion channel expression offers an optimistic future for channelopathy patients across a spectrum of neurodevelopmental disorders.