Faculty Member

Broadly, our research centers around human heredity and the somatic cell biology of mutations that produce disease. Our interests encompass psychiatric genetics, addiction biology and mechanisms of gene regulation and include the production of induced pluripotent stem cell (iPSC) and engineered mouse genetic models for disease as key tools to understand biological mechanisms.

One research focus is Tourette disorder (TD), a neuropsychiatric condition that is characterized by verbal and motor tics and which is observed in about 1 in 150 children. We have analyzed inherited, disease-producing genetic variants of specific genes in large TD families using neurons derived from iPSCs and molecular genetics tools. In contrast, our “TIC Genetics” collaborative group has discovered and is now characterizing new gene mutations that have arisen in the TD children of unaffected parents. We aim to understand how these gene variants function on a cellular level by comparing iPSC-derived neurons from affected and unaffected individuals. At the same time, we hope to model TD behavior, neuroanatomy and neurophysiology with mice engineered to have mutations identical to those that we have discovered in TD humans.

Other research foci include collaborative research on the genetics and functional mechanisms of alcohol abuse and cellular opioid responses. We also continue with loss of heterozygosity (LOH) experiments to determine what features along the mitotic chromosome promote recombination that results in LOH. Additional lab projects include development of drugs to treat cystinuria, a disease characterized by painful, recurrent cystine kidney stones, using an engineered mouse model for cystinuria.