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Integrative Structural and Computational Biology

Ali Torkamani, Ph.D.

Associate Professor
Director of Genome Informatics, Scripps Translational Science Institute
Department of Integrative Structural and Computational Biology
California Campus
Laboratory Website
atorkama@scripps.edu
(858) 784-2082

Scripps Research Joint Appointments

Scripps Translational Science Institute
Department of Molecular and Experimental Medicine
TSRI Graduate Program
Faculty, Graduate Program

Research Focus

Dr. 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, predictive genomic signatures of response to therapy – especially cancer therapy, and novel sequencing-based assays as biomarkers of disease.

Education

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

Professional Experience

Stanford University, B.S. Chemistry, 1999-2003
University of California, San Diego, Ph.D. Biomedical Sciences, 2005-2008
Scripps Translational Science Insistute, Research Scientist, 2008-2009
Scripps Translational Science Insistute, Assistant Faculty, 2009-2014
Scripps Research Institute
, Assistant Professor of Molecular and Experimental Medicine, 2009-Present
Scripps Research Institute, Assistant Professor of Integrative Structural and Computational Biology, 2014-Present
Scripps Translational Science InsistuteAssociate Faculty2014-Present
Scripps Translational Science InsistuteDirector of Genome Informatics2012-Present
 

Awards & Professional Activities

Blasker Science and Technology Award
Mario r. Alvarez Foundation Award
Donald C. and Elizabeth M. Dickinson Foundation Fellowship
National Institute of Health, Genetics Predoctoral Training Grant
Bing Foundation Chemistry Research Fellowship 

Selected References

Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy.  Ann Neurol. 2014 Oct;76(4):529-40.

Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9.

Wang F, Ekiert DC, Ahmad I, Yu W, Zhang Y, Bazirgan O, Torkamani A, Raudsepp T, Mwangi W, Criscitiello MF, Wilson IA, Schultz PG, Smider VV. Reshaping antibody diversity. Cell. 2013 Jun 6;153(6):1379-93.

Malyshev DA, Dhami K, Quach HT, Lavergne T, Ordoukhanian P, Torkamani A, Romesberg FE. Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet. Proc Natl Acad Sci U S A. 2012 Jul 24;109(30):12005-10.

Zhang H, Torkamani A, Jones TM, Ruiz DI, Pons J, Lerner RA. Phenotype-information-phenotype cycle for deconvolution of combinatorial antibody libraries selected against complex systems. Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13456-61.

Komori HK, LaMere SA, Torkamani A, Hart GT, Kotsopoulos S, Warner J, Samuels ML, Olson J, Head SR, Ordoukhanian P, Lee PL, Link DR, Salomon DR. Application of microdroplet PCR for large-scale targeted bisulfite sequencing. Genome Res. 2011 Oct;21(10):1738-45.

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.

Links

Through genomics, parents find answers

“We Gained Hope.” The Story of Lilly Grossman’s Genome