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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, […]
Dr. Kingsmore recognized for his innovation in neonatal molecular diagnoses using rapid whole-genome sequencing Rady Children’s Institute for Genomic Medicine® (RCIGM) today announced that Stephen Kingsmore, MD, DSc, President and CEO, was presented with the Precision Medicine World Conference (PMWC) 2022 Luminary Award at this year’s conference in the Silicon Valley region of California for […]
BeginNGS™ to accelerate newborn screening by rapid whole genome sequencing to help diagnose and treat genetic diseases with available therapies Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced a novel program to advance and evaluate scalability of a diagnostic and precision medicine guidance tool called BeginNGS™ (pronounced “beginnings”) to screen newborns for approximately 400 genetic […]
For first time, researchers track the cellular migration of developing fetal brains by backtracking genetic mutations documented in deceased adult brains The making of a human brain remains a mostly mysterious process that races from an embryonic neural tube to more than 100 billion interconnected neurons in the brain of a newborn. To achieve this […]
Rady Children’s Institute for Genomic Medicine is pleased to announce the selection of Lynn M.T. Perez as its new Senior Vice President/Executive Director. A highly skilled executive leader, Perez has directed clinical, research and business operations at large health care systems for more than 15 years. Most recently Vice President of the Brain Health Center […]
Ten hospitals in the Sanford Children’s Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).
Pivotal study led by Fabric Genomics and Rady Children’s Institute for Genomic Medicine demonstrates that artificial intelligence can enable the accurate and rapid clinical diagnosis of rare diseases in critically ill newborns based on whole-genome or whole-exome analyses Fabric Genomics and Rady Children’s Institute for Genomic Medicine® today announced the publication of a retrospective study […]
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