Rady Children’s Institute for Genomic Medicine

The 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”

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.

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. For more information visit radygenomics.org

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