PhD
Kenan Distinguished Professor, Cell Biology and Physiology
Associate Director, UNC Neuroscience Center
UNC-Chapel Hill
Cancer Genetics
Area 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
- Kenan Distinguished Professorship, 2016-present
- 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, 2013
- Simons Foundation Investigator, 2010-2017
- Daniel X. Freedman Award, an award given for outstanding basic research achievement by a NARSAD Young Investigator, 2010
- NARSAD Young Investigator Award, 2008-2010
- Whitehall Foundation research grant, 2007-2008
- NARSAD Young Investigator Award, 2006-2008
- University Research Council Award, 2006
- UNC Junior Faculty Development Award, 2006
- Whitehall Foundation research grant, 2002-2006
- Howard Hughes Medical Institute Postdoctoral Research Associate, Brown University, 1998-2001
- National Research Service Award, N.I.M.H., 1995-1997
- Phillip H. Presley Scholarship, Carl Zeiss, Inc., 1995
- Graduate Research Scholarship, American Psychological Foundation, 1995
- Presidential Fellowship, University of Virginia, 1992-1994
- Honorable mention, N.S.F. graduate awards, 1992
- Magna Cum Laude, Duke University, 1992
- Phi Beta Kappa, Duke University, 1992
