Genomics LogoThe Rady Children’s Institute for Genomic Medicine, established in 2014, brings together a team of world experts with a singular vision: making genomic medicine fast, facile and fully integrated into the daily standard of care for all children who are ill.

The Institute’s innovative work was recently published. See “Newborn Sequencing in Genomic Medicine and Public Health”

Also see the article in Research Features Magazine: “Diagnosis in the Genomics Era”

Under the direction of Stephen Kingsmore, M.D., D.Sc., who pioneered rapid whole genome sequencing for childhood genetic diseases, the Institute is working hand-in-hand with Rady Children’s Hospital-San Diego to be able to predict, pre-empt and more effectively treat myriad childhood diseases. Within the Institute is the Clinical Genome Center , a state-of-the-art facility using the most advanced rapid genome sequencing technology. Learn more.

Video: Dr. Stephen Kingsmore, president and CEO, explains how the Institute will transform pediatric medicine

Clinical Diagnoses

Under research protocols, the Institute has begun diagnostic genome sequencing on critically ill infants with unknown conditions (and their families) in Rady Children’s neonatal intensive care and pediatric intensive care units (NICU and PICU). By utilizing the Guinness World Record® -setting, genome sequencing protocol and diagnostic software pioneered by Dr. Kingsmore’s team, we can quickly zero in on the root causes of a child’s condition. Just one test can screen for thousands of diseases, and our innovative data-analysis software and skilled clinical interpretation can deliver information that physicians can immediately use to care for their patients’ unique needs.

Plans are underway to include other clinical areas, such as neuro-oncology, autism spectrum disorders, epilepsy and genetics clinics. The Institute is also proposing expanding rapid genome sequencing to national newborn screening.

Institute Staff

Rady Children’s Institute for Genomic Medicine is embedded within Rady Children’s, yet functions as an independent institute with its own board and fiscal oversight. Multidisciplinary experts were hand-selected to provide governance and strategic direction as the Institute board of directors, which is led by David Hale, a highly respected corporate leader in life sciences. Dr. Stephen Kingsmore took the helm as president and CEO in September 2015. He is the Guinness World Records® title holder for fastest genetic diagnosis by successfully diagnosing critically ill newborns in just 26 hours. Meet our team.