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Partnering to End the Diagnostic Odyssey

We are heading up a newborn sequencing consortium that will revolutionize and shorten the diagnostic journey.

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Changing Lives
In Real Time

We are transforming pediatric healthcare through the power of Rapid Precision Medicine™

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Honoring 60 Years of Newborn Screening

See how scientific and medical advances have propelled newborn screening forward.

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Advancing Rapid
Precision Medicine™

We’re setting a new standard of care for newborns and children with rare undiagnosed diseases.

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Join our dynamic team of professionals from around the world

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Media Coverage
Media Coverage

Deep-Learning Model Can Detect Disease-Causing Mosaic Mutations

California-based researchers described how they trained a deep-learning model to detect DNA mutations called mosaic mutations that could support the development of treatments for several diseases.

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Press Releases

Stephen Kingsmore, MD Named Inaugural David F. Hale Chair in Pediatric Genomic Medicine 

Rady Children’s Institute for Genomic Medicine® (RCIGM) President & CEO Stephen Kingsmore, MD, DSc, was formally inducted today as the David F. Hale Chair in Pediatric Genomic Medicine. Serving as an endowed chair is one of the highest honors in academic medicine. 

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Discovery of Endocannabinoid Gene Mutation Leads to Identification of  New, Rare Pediatric Neurological Disease
Press Releases

Discovery of Endocannabinoid Gene Mutation Leads to Identification of  New, Rare Pediatric Neurological Disease

In a study published in the October 2022 issue of BRAIN, researchers from Rady Children’s Institute for Genomic Medicine (RCIGM®) and the University of California San Diego School of Medicine describe their discovery of a new clinical syndrome, Neuro-Ocular DAGLA-related Syndrome (NODRS), in children with termination variants in the diacylglycerol lipase alpha (DAGLA) gene which encodes an enzyme in the brain that is involved in the signaling pathway of the endocannabinoid (eCB) system.

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Pathology Update 2023: Laneways to Discovery

Friday February 24, 2023 |

Dr. Stephen Kingsmore will present the Eva Raik Memorial Oration in the Genetic Pathology Scientific stream.


AI, Genomes, Electronic Health Records and the NICU

Wednesday January 25, 2023 | 3pm PT

GEM is the first AI-based tool with all the features needed for rapid, scalable diagnosis of critically ill infants in the NICU. GEM is now integral to genomes-based diagnosis programs at the University of Utah, at Rady Children’s Hospital, and at the Broad Institute. Come see real data from real cases, and learn how AI is being used to combine Genomes and Electronic Health Records for rapid diagnosis in the NICU.

*Free Registration is required

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Join Us in Transforming
Pediatric Healthcare

Rapid Precision Medicine™ is here now. We are setting the standard for pediatric critical care by breaking barriers to expand access to genomically-informed, personalized care nationwide. We offer many opportunities to collaborate with as we work to save and improve lives.

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