My principal area of research involves elucidating the molecular mechanisms underlying multi-factorial diseases. My lab is primarily interested identifying the complex genetic factors that give rise to multiple sclerosis (MS) and autism. We are using targeted approaches to identify differential methylation of the oxytocin receptor gene (OXTR) in individuals with autism, and applying these data to an NICHD funded ACE award, SOARS-B, to assess long term use of oxytocin nasal spray to improve social reciprocity in 300 children with autism, and for which we are developing e/genetic and transcriptomic predictors of response and effects of long term drug exposure.
My MS laboratory at Duke University is using cell signaling and immune cell flow sorting to establish the role of IL7R signaling in the development of MS; we are exploring the use of high sensitivity assays to develop a trajectory of disease development in progressive MS; we are exploring the use of endogenous oxysterols to trigger remyelination of white matter injury in MS; and establishing the immune expression and receptor profile of MS patients who do or do not respond to drug treatment.
I am PI of the MURDOCK-MS collection, a cross sectional MS cohort of ~1000 MS patients that will provide the basis for genetic, genomic and metabolomic biomarker identification of MS disease development and progression. I am Director of the Duke Center for Research in Autoimmunity and MS within the Duke Department of Neurology, and also Director of the Molecular Genomics Core at the DMPI in which we are applying a panoply of single cell approaches to basic and translation research.