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Brain & Behavior Research Foundation Awards Young Investigator Grant to Researcher at Rady Children’s Institute for Genomic Medicine

Rady Childrens Institute for Genomic Medicine (RCIGM) is proud to announce that Aaron D. Besterman, MD, received a Young Investigator Grant from the Brain & Behavior Research Foundation.

October 26, 2023

Rady Children’s Institute for Genomic Medicine Co-develops Fast Genetic Variant Testing with In Vivo BioSystems

This study will help medical teams determine the pathogenicity of a variant in the STXBP1 gene – which can cause severe seizures, intellectual disability, and developmental delays — to swiftly end the diagnostic odyssey for patients and their families.

July 25, 2023

Genome Sequencing Nearly Twice as Effective as a Targeted Gene-Sequencing Test at Diagnosing Genetic Disorders in Newborns and Infants

Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.

July 11, 2023

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.

July 10, 2023


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. 

November 7, 2022

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.

October 27, 2022

Rady Children’s Institute for Genomic Medicine and PlumCare RWE Partner to Expand Newborn Screening Program to Greece

BeginNGS Greece to Be First International Site Rady Children’s Institute for Genomic Medicine (RCIGM®) and PlumCare RWE, a Biotechnology and HealthCare data company, today announced a partnership to establish the first international site for BeginNGS™ (pronounced “beginnings”), a pilot program to screen newborns for approximately 400 genetic diseases that have known treatment options using rapid […]

October 3, 2022

Novel Newborn Screening System Uses Rapid Whole Genome Sequencing and Acute Management Guidance to Screen and Diagnosis Genetic Diseases

Study demonstrates feasibility of NBS-rWGS prototype to rapidly screen for several hundred genetic diseases with effective interventions

August 24, 2022

Study Supports Potential of Genome-to-Treatment (GTRx™) to Guide Physicians  in the Management of 500 Treatable Genetic Diseases

GTRx, a clinical decision support tool, can provide front-line clinicians with the information they need to initiate precision treatments for critically ill infants and children in intensive care Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced the publication of a study in Nature Communications describing and examining the performance of Genome-to-Treatment (GTRx™), an automated, […]

July 26, 2022

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