Human geneticist focused on human genetic diversity, the genetics of disease and pharmacogenetics. Recently, was Director of the Institute for Genomic Medicine, and Professor of Genetics and Development at Columbia University, with the mission to integrate genetics and genomics into research, patient care, and education. Previously directed Duke University’s Center for Human Genome Variation. Discovered a number of disease-causing genes and syndromes, in particular neurological and infectious diseases. Additionally, served as advisor to numerous pharmaceutical companies, including as Astra Zeneca’s chief genomics adviser and led an integrated initiative focused on the discovery of new targets and biomarkers linked to molecular mechanisms of disease across multiple therapy areas. Co- Founder of Praxis Precision Medicines, a public clinical-stage biopharmaceutical company translating genetic insights into the development of therapies for patients affected by central nervous system (“CNS”) disorders characterized by neuronal imbalance. Currently, Co-founder and CEO of Actio Biosciences, a venture-backed company focused on using bioinformatics to systematically interrogate the genome to identify novel disease targets and treatments for Mendellian genetic diseases and associated common disorders.