Biomedical Sciences Graduate Program

Research Interests:

The historical interest of my laboratory has been in gene therapy and he development of efficient gene transfer methods. Our principal clinical model for gene therapy is the neurodevelopmental disorder Lesch Nyhan Disease caused by deficiency of the housekeeping HPRT gene and characterized by retardation, dystonia and self-mutilatory behavior. We have shown that HPRT deficiency dysregulates a number of vital signaling pathways and leads to dysregulation of neurogenesis and aberrant expression of genes required for faithful development of dopamine pathways and dopaminergic neurons. Our current studies involve gene expression studies in cell culture models and in a knockout mouse model of the disease. We are currently concentrating on characterizing the aberrant neurogenic mechanisms in human ES and iPS cells deficient in HPRT. Our general technology includes gene expression profiling, ES and iPS cell differentiation, ChIP-Sseq analysis of wild type and HPRT knockdown cells and micro-RNA dysregulation of neural pathways in HPRT deficiency. Another set of studies deals with the development of molecular signals of administration of doping agents in Sport and the use of computational methods for meta analysis of disparate datasets.