CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Hakon hakonarson

Hakon Hakonarson


Hakon Hakonarson, M.D., Ph.D., is Director of the Center for Applied Genomics, Endowed Chair in Genomics Research and Professor of Pediatrics at The University of Pennsylvania, Perelman School of Medicine. Dr. Hakonarson received his M.D. and Ph.D. from the University of Iceland, School of Medicine. He leads a major 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 is a Principal Investigator within the eMERGE, Kids First, and TopMed genomics programs funded by the NIH.
Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects 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, and he was a principal investigator on the Neurodevelopmental Genomics: Trajectories of Complex Phenotypes, the largest research project ever supported by the National Institute of Mental Health. Dr. Hakonarson recently completed a clinical biomarker study in ADHD demonstrating strong efficacy and safety of a neuromodulator compound (NFC-1) in children with specific mutations in the glutamate metabotropic (mGluR) receptor family of genes with ADHD and Autism. He has published over 650 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.

Patrick Sleiman

Patrick Sleiman

Associate Director

Patrick Sleiman is one of the lead analytical scientists at The Center for Applied Genomics. Patrick’s foundation in genetics lay in his doctorate from the University of London. During his fellowship in London, he was awarded a Bogue Fellowship to analyze copy number variants (CNV) in Parkinson’s patients at The Cold Spring Harbor Institute. His research interests at CAG lay in the genetic variants associated with neurodegenerative diseases and pediatric asthma.

Avni Santani

Avni Santani

Director – CLIA Laboratories, Strategic Partnerships and Innovation

Dr. Avni Santani, Ph.D, is Director of CLIA Laboratories, Strategic Partnerships and Innovation at CAG, where she oversees the clinical genomics program for rare pediatric disorders. She is also an Associate Professor of Clinical Pathology at the University of Pennsylvania. Dr. Santani received her Master’s in Medical Molecular Genetics at the University of Aberdeen and her PhD in Genetics at Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics.
Under Dr. Santani’s leadership, the multi-disciplinary CLIA accredited program at CAG is focused on creating comprehensive genomics program for patients with rare genetic disorders by forming strategic alliances with pharmaceutical companies, advancing gene discovery, developing comprehensive genetic tests, and developing innovative technologies and informatics tools. Dr. Santani is an experienced leader in molecular diagnostics with years of experience in clinical testing, genomics, strategy and laboratory administration. Her research focuses on leveraging advanced technology and informatics for the diagnosis of rare genetic disorders. Her work in the area of clinical genomics led to her receiving the Innovator of the Year Award (2015) by the Philadelphia Business Journal and Outstanding Contributions to the Prevention of Birth Defects Award by the National China Gene Bank. She also is actively involved with several national working groups including College of American Pathologists Genome Medicine Committee, the Association for Molecular Pathology, American College of Medical Genetics and the Clinical Laboratory Standards Institute and is considered an international leader in the advancement of genomic medicine.