President and CEO, Rady Children's Institute for Genomic Medicine
BIOGRAPHY
Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are key to pinpointing an accurate diagnosis. The Rady Children’s Institute for Genomic Medicine has engineered a Whole Genome Sequencing process to rapidly decode, analyze and interpret the root causes of rare genetic disorders in newborns and children in intensive care in a matter of days. RCIGM president and CEO Stephen Kingsmore, MD, DSc, discusses how his team is working to equip clinicians with this critical information to facilitate medical decision making.