Genetics and Genomics
At the University of Virginia, Topol authored his baccalaureate thesis in 1975 entitled “Prospects for Genetic Therapy in Man” which concentrated on genetics, and received a BA degree With Highest Distinction. During his training at Johns Hopkins University, he was involved from the very first patient who was administered t-PA in 1984, a genetically engineered protein. But it was not until 1996 that he started the first dedicated cardiovascular gene bank while at Cleveland Clinic. This effort led to many discoveries in the genetics of cardiovascular disease, including the identification of key genes associated with heart attack. Both thrombospondin variants and the MEF2A deletion reports were recognized as top 10 advances by the American Heart Association in 2000 and 2004, as mentioned above. He was the Principal Investigator of the flagship National Institutes of Health Specialized Centers of Clinically Oriented Research (SCCOR) grant on the genomics of heart attack with a $17 million award in 2005. His work in genetics has been recognized by the American College of Cardiology with the Simon Dack Award and Lecture in 2005 and by the European Society of Cardiology by the Andreas Gruentzig Award and Lecture in 2004. In moving to Scripps in 2006, he started the Scripps Genomic Medicine program and recruited a large team to advance individualized medicine using genomic approaches. The group formed the Scripps Translational Science Institute, which presently includes Drs. Nicholas Schork, Ali Torkamani, Cinnamon Bloss, and Nathan Wineinger, and has multiple NIH funded projects on genomics of cancer, aging, cardiovascular disease, pharmacogenomics and diabetes. It is a major force in San Diego bringing together basic scientists and clinical investigators from Scripps Health and The Scripps Research Institute along with researchers from the Salk Institute, Sanford-Burnham Institute, the San Diego Supercomputer Center, and the Children’s Hospital of Philadelphia. Each year since 2007 Scripps Genomic Medicine and the Scripps Translational Science Institute put together a major program entitled “Future of Genomic Medicine” which attracts several hundred clinicians and scientists. In 2009, Topol led the team at Scripps to be the first center to perform routine genotyping of patients undergoing stenting for variants of the gene CYP2C19, the major gene implicated in Plavix metabolism. The first large scale prospective study of consumer genomics, known as the Scripps Genomic Health Initiative, was completed in 2010. Also in 2010, he initiated the Association for Genomic Medicine that is dedicated to training physicians in genomics.
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