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Scripps Research Joint Appointments

Assistant Faculty, Translational Research Institute
Faculty, Kellogg School of Science and Technology

Research Focus

Networks, Genetics and Genomics

Our goal is to understand genetic mechanisms of human disease by analyzing genetic and genomic data of many types in a systems biology framework. Due to the large amount of data generated by modern high-throughput genomic technologies, it can be difficult to differentiate real biological signals from noise in different disease states, however, by considering the data as a set of connected signals organized in networks and pathways, we are able to identify consistent perturbations across biological networks and gain insight into the mechanisms underlying human disease. By identifying the genetic mechanisms of human disease, we can begin to propose strategies for disease prevention.

Our work focuses on the genetic mechanisms of cancer and neuropsychiatric diseases through strong collaborations with other faculty, but the methods are amenable to any human diseases or even to studying other organisms. We focus on integrating mutation, gene expression, and epigenetic data, and believe that disease mechanisms, or basic signaling processes, can only be fully understood in the context of the whole biological system.

Education

B.S., Chemistry, Stanford University, 2003
Ph.D., Biomedical Sciences, University of California at San Diego, 2008

Selected References

Torkamani A, Dean B, Schork NJ, Thomas EA. Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia. Genome Res. 2010 Apr;20(4):403-12.

Torkamani A, Schork NJ. Identification of rare cancer driver mutations by network reconstruction. Genome Res. 2009 Sep;19(9):1570-8.

Torkamani A, Topol EJ, Schork NJ. Pathway analysis of seven common diseases assessed by genome-wide association. Genomics. 2008 Nov;92(5):265-72.

Torkamani A, Kannan N, Taylor SS, Schork NJ. Congenital disease SNPs target lineage specific structural elements in protein kinases. Proc Natl Acad Sci U S A. 2008 Jul 1;105(26):9011-6.