Assistant Professor, Department Molecular and Human Genetics
Assistant Professor, Department of Molecular Physiology & Biophysics;Computational and Integrative Biomedical Research Center; Human Genome Sequencing Center; Program in Structural & Computational Biology and Molecular Biophysics
B.S., Texas A&M University, 1993
Ph.D., Baylor College of Medicine, 2002
Postdoc, Rockefeller University, 2008
Member, American Society of Human Genetics
Personalized genomics to identify genes causing Mitochondrial Disease
Mitochondrial disease has an incidence of 1/5000 and can affect every organ system. Childhood-onset mitochondrial disease most often results from recessive mutations in the nuclear genome; however, the vast majority of cases remain without a molecular diagnosis and no effective treatments thus underscoring the critical need to identify the genetic aberrations driving these disorders. We are leveraging a personalized functional genomics approach combining genome-wide sequencing, mitochondrial functional profiling in patient cells, and functional genomics to identify validated novel mitochondrial disease genes. This project will significantly advance the diagnosis and treatment of mitochondrial disease, as well as provide new insights into the mechanisms underlying the pathology of mitochondrial respiratory chain disorders and commonly occurring conditions associated with mitochondrial dysfunction such as cancer, diabetes and neurodegeneration.