Genomic Discoveries & Precision Medicine-Based Impact of the Center for Applied Genomics at CHOP Over the Past 16 Years

Dr. Hakon Hakonarson, MD, PhD, is Professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, CHOP’s Endowed Chair in Genomics Research and Director of the Center for Applied Genomics. Dr. Hakonarson leads a major commitment from CHOP to genomically characterize over 100,000 children, an initiative that has gained nationwide attention. Dr. Hakonarson is a Principal Investigator within the eMERGE, Kids First and the TOPMed genomics programs funded by the NIH. Dr. Hakonarson is ranked among “The World’s Most Influential Scientific Minds” (Thomson Reuters top 1%).

Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, including as vice president of Clinical Sciences and Development at deCODE genetics, Inc. Dr. Hakonarson has been the principal investigator (PI) on multiple National Institute of Health-sponsored grants, including Neurodevelopmental Genomics: Trajectories of Complex Phenotypes, the largest research project ever supported by the National Institute of Mental Health.

Dr. Hakonarson has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year, and paper on a novel precision-based therapy in vascular malformation disorders was awarded among the top 10 clinical/translational papers in 2019 by the Clinical Research Forum. Dr. Hakonarson is a pioneer of large-scale genomics and drug development projects for optimized deliverables of novel precision-based therapies as presented here.

Learning Objectives:

  1. Understand how genomic approaches are used to uncover genes and genetic variants that are used to inform precision-based therapies
  2. Understand how genetic biomarkers are leveraged to select medications for repurposing opportunities aimed at high efficacy and low risk of adverse events
  3. Understand how artificial intelligence and “Big Data” are transforming medicine with respect to innovative therapies


This seminar was delivered as a Pediatric Grand Rounds Lecture at Children’s Hospital of Philadelphia, on October 5, 2022.

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Course Includes

  • 1 Lesson
  • Course Certificate
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