Genetic Determinants of Human Health and Disease:
Our research explores gene variants causing and/or modulating a number of common multigenic disorders, including Parkinson’s disease (PD), dystonia, cancer (pediatric acute lymphoblastic leukemia (ALL) and inherited cancer), polycystic ovarian syndrome (PCOS) and autism spectrum disorders. The disorders were selected on the basis of their prevalence and very significant impact on quality of life, the availability of large patient populations, significant prior knowledge obtained by team members, and the urgent need for and potential major socioeconomic and medical impact of new diagnostics and therapeutics for any one of these conditions. Discoveries of population specific genetic variants associated with such common cancers as breast cancer have important clinical implications, all of this knowledge paving the way for predictive or diagnostic tests relative to these diseases. So far, results of our project have found association of gene variants with risk for PD, PCOS and ALL.