Dr. Stephen KingsmorePres. CEO Rady Children's Inst.
Stephen Kingsmore, M.D., D.Sc., president and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital-San Diego, is the official title holder of the Guinness World Records® designation for fastest genetic diagnosis, which he accomplished by successfully diagnosing critically ill newborns in just 26 hours, as published in the journal Genome Medicine. The feat was made possible by several time-shrinking technologies, including Edico Genome’s genomic data-crunching computer chip, DRAGEN, and one of Illumina’s high-throughput sequencing instruments. In addition, other parameters of the sequencing process were optimized. Dr. Kingsmore achieved this Guinness World Records title while serving as executive director of Medical Panomics at Children’s Mercy Kansas City; he will implement the enabling technologies at the new Rady Children’s Institute for Genomic Medicine. Today’s celebration in San Diego, often called “the genomics capital of the world,” is being held on National DNA Day, which commemorates the completion of the Human Genome Project and the discovery of DNA’s double helix.