Ali Torkamani, PhD
The human genome is the biological code that specifies human beings. Ali Torkamani’s overall vision is to decipher that code in order to understand and predict interventions that restore diseased individuals to a healthy ground state. He is director of Genomics and Genome Informatics at Scripps Research Translational Institute and a professor at Scripps Research—professor, scientist, inventor and entrepreneur.
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 undergraduate degree in chemistry at Stanford University, where he received a Bing Foundation Chemistry Research Fellowship, and his doctorate in biomedical sciences at the University of California, San Diego, (in record time) under the mentorship of Dr. Nicholas Schork as an NIH Genetics Predoctoral Training awardee. In 2008, he joined 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. Torkamani was also co-founder and chief scientific officer of Cypher Genomics Inc. — acquired by Human Longevity, Inc. in 2015.
Publications