Rady Childrens Institute for Genomic Medicine (RCIGM), a non-profit research institute enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients, is proud to announce that Aaron D. Besterman, MD, received a Young Investigator Grant from the Brain & Behavior Research Foundation.
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.
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.
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.
Rapid, Diagnostic Whole Genome Sequencing May Have Prevented Deaths in Some Cases
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.
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.
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 […]
Study demonstrates feasibility of NBS-rWGS prototype to rapidly screen for several hundred genetic diseases with effective interventions
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, […]