Stephen Kingsmore


Stephen Kingsmore, CEO of Rady’s Children’s Genomics Institute

Stephen Kingsmore, MB, ChB, BSc, BAO, DSc, President and CEO, Rady Children’s Institute for Genomic Medicine

Dr. Stephen F. Kingsmore leads a multi-disciplinary team of scientists, physicians, and researchers in pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically ill newborns. Dr. Kingsmore holds the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours. He was able to accomplish this using a machine-learning process and clinical natural language processing along with other advances in automation. TIME magazine ranked his first record-breaking time among the top 10 medical breakthroughs of 2012. Up to one-third of babies admitted to neonatal intensive care units in the United States have a genetic disease and more than 20 percent of infant deaths are caused by genetic illnesses. Treatments are currently available for more than 500 genetic diseases and for about 70, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. Dr. Kingsmore’s ultimate goal is to collaborate to implement this approach in neonatal and pediatric intensive care units across the country. Before being selected to lead the Rady Children’s Institute for Genomic Medicine, Dr. Kingsmore was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has served as the President and CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging, Inc., Vice President of Research at CuraGen, Founder of GatorGen, and Assistant Professor at the University of Florida’s School of Medicine. He holds a Board Certification in Internal Medicine and is a Fellow of the Royal College of Pathologists. He was named MedScape Physician of the Year in 2012 and received the 2013 Scripps Genomic Medicine Award and the 2013 ILCHUN Prize of the Korean Society for Biochemistry and Molecular Biology. Dr. Kingsmore received his MB, ChB, BAO, and DSc degrees from Queen’s College University in Belfast. He trained in clinical immunology in Northern Ireland and did his residency in internal medicine and a Fellowship at Duke University Medical Center.

Listen to the interview with Stephen (published October 2020) https://mendelspod.com/podcasts/when-and-why-whole-genome-sequencing-sho...



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