Director of Genome Informatics, Scripps Research Translational Institute; Professor, Scripps Research

Ali Torkamani’s research covers a broad range of areas centered on the use of genomic technologies to identify the genetic etiology and underlying mechanisms of human disease in order to define precision therapies for diseased individuals. Major focus areas include human genome interpretation and genetic dissection of novel rare diseases, individualized prediction and prevention of disease risk through combined genetic and clinical risk factors, and sequencing-based assays as biomarkers of disease. He has authored over 80 peer-reviewed publications as well as numerous book chapters and Medscape references. His research has been highlighted in the popular press.

Torkamani obtained his doctorate in biomedical sciences at the University of California, San Diego, under the mentorship of Nicholas Schork as an NIH Genetics Predoctoral Training awardee. In 2008, he joined the Scripps Research Translational Institute as a research scientist and Donald C. and Elizabeth M. Dickinson Fellow, and shortly thereafter as an assistant professor of Molecular and Experimental Medicine and Mario R. Alvarez Fellow. In 2012, Torkamani advanced to director of Genome Informatics at the Translational Institute, where he leads various human genome sequencing and other genomics initiatives. Previously, Torkamani was the co-founder and chief scientific officer of Cypher Genomics Inc., acquired by Human Longevity, Inc. in 2015.