In the broadest sense, my research interests include understanding all aspects of the contribution of genetic variation to human health and disease. In particular, our studies involve clinical, biochemical, molecular and therapeutic aspects of specific human genetic diseases as well as more global studies on the network interactions and consequences of variation in the genes and proteins implicated in human disease. More specifically, we have focused on a wide variety of monogenic disorders and, more recently, on the genetic factors that contribute increased susceptibility for neuropsychiatric diseases such as schizophrenia. Currently, we are using genomic (whole exome and whole genome sequencing) and genetic approaches for identifying the variants and genes responsible for rare Mendelian disorders that are referred to us from healthcare providers from around the world. This activity derives from my role as Principle Investigator for the Baylor-Hopkins Center for Mendelian Genomics, an NIH funded project to find and “solve” as many Mendelian disorders as possible. For a subset of these disorders, we study the functional consequences and disease mechanisms more deeply using a variety of experimental approaches including cellular and whole organism models (zebrafish, mice) to understand disease pathobiology and evaluating possible treatment strategies. The ultimate goal of this effort will be to synthesize the knowledge gained about each rare disorder into a deeper and much more informed understanding of the relationships between genotype and phenotype and from that knowledge develop a richer understanding of human disease mechanisms and what we can do to prevent or treat disease.