Kenan Distinguished Professor
Associate Director of the UNC Neuroscience Center
Education and Training
University of Virginia, PhD
Brown University and MIT, Postdoctoral
Areas of Interest
Understanding the molecular, cellular, and circuit-level basis for the pathophysiology underlying monogenic neurodevelopmental disorders. A number of neurodevelopmental disorders are caused by mutations in different, seemingly unrelated, genes (e.g. – UBE3A and TCF4). However, similar phenotypic manifestations suggest that these disorders share underlying cellular phenotypes, or give rise to perturbances that converge pathophysiologically at the circuit level. We employ an array of modern scientific approaches to understand the pathophysiology underlying monogenic neurodevelopmental disorders, and leverage the knowledge gained from these approaches to develop gene therapies and novel drug treatments.
Identification and validation of novel therapeutics for the treatment of monogenic neurodevelopmental disorders. My lab is passionate about identifying novel treatments for monogenic neurodevelopmental disorders such as Angelman, Pitt-Hopkins, and Dup15q syndromes. We focus on strategies to restore or normalize gene expression, through gene therapy and the development of small molecule compounds. My lab has optimized a high-throughput approach for screening small molecules in primary neurons, which have many properties that are not mirrored in dividing cell types.
Awards and Honors
1992 Phi Beta Kappa, Duke University; 1992 Magna Cum Laude, Duke University; 1992 Honorable mention, N.S.F. graduate awards; 1992-1994 Presidential Fellowship, University of Virginia; 1995 Graduate Research Scholarship, American Psychological Foundation; 1995 Phillip H. Presley Scholarship, Carl Zeiss, Inc.; 1995-1997 National Research Service Award, N.I.M.H.; 1998-2001 Howard Hughes Medical Institute Postdoctoral Research Associate, Brown University; 2002-2006 Whitehall Foundation research grant; 2006 UNC Junior Faculty Development Award; 2006 University Research Council Award; 2006-2008 NARSAD Young Investigator Award; 2007-2008 Whitehall Foundation research grant; 2008-2010 NARSAD Young Investigator Award; 2010 Daniel X. Freedman Award, an award given for outstanding basic research achievement by a NARSAD Young Investigator; 2010-2017 Simons Foundation Investigator; 2013 recipient of the Dr. Claudia Benton Award for Scientific Research, awarded by the Angelman Syndrome Foundation for demonstrating strong commitment to advancing the scientific knowledge as it pertains to Angelman Syndrome; 2016-present Kenan Distinguished Professorship
Curriculum in Cell Biology and Physiology
Carolina Institute for Developmental Disabilities