Hakon Hakonarson, MD, PhD

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Director, CHOP Center for Applied Genomics

Hakon Hakonarson, M.D., Ph.D., is Director of the Center for Applied Genomics and Professor of Pediatrics at The University of Pennsylvania, Perelman School of Medicine. He leads a $40 million commitment from CHOP to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science.


Dr. Hakonarson has been the principal investigator (PI) on several National Institute of Health-sponsored grants, including the Neuro-developmental Genomics: Trajectories of Complex Phenotypes, the largest project ever supported by the National Institute of Mental Health. Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, and he recently completed a clinical biomarker study in ADHD demonstrating strong efficacy and safety of a neuromodulator compound in children with specific mutations in the glutamate metabotropic (mGluR) receptor family of genes which may also benefit children with autism (www.ClinicalTrial.gov).


Dr. Hakonarson has published over 450 scientific papers, including numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Medicine, Nature Genetics, Cell and The New England Journal of Medicine. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year. With over 18 years of experience in pioneering genomics research and genome-wide mapping and association studies,  Dr. 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.