Ask the Experts: Pharmacogenomics and genome-wide association studies

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Abstract

Hakon Hakonarson is an associate professor of pediatrics at The University of Pennsylvania School of Medicine (PA, USA). He is a physician–scientist and director of The Children's Hospital of Philadelphia's Center for Applied Genomics, a high-throughput highly automated genotyping facility founded to identify the genetic causes of complex medical disorders in children, such as autism and cancer, with the objective of developing new therapies. The Center represents a US$40 million commitment from The Children's Hospital of Philadelphia to genotype approximately 100,000 children; a research undertaking that has gained nationwide attention, including news features in prestigious newspapers and scientific journals. Hakonarson has an extensive track record in human genetics and has developed an international reputation among his peers. He has served previously in several senior posts in the biopharmaceutical industry and has been the principal and coprincipal investigator on several NIH-sponsored grants. He has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals. Time Magazine listed Hakonarson's autism gene discovery, reported in Nature in 2009, among the top ten medical breakthroughs of that year. With over 15 years of experience in pioneering genomics and pharmacogenomics research, as well as genome-wide mapping and association studies, Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.

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