scientific publications Archives

Two thirds of children who underwent genetic testing in the pediatric intensive care unit showed a genetic variant, and a third of these children received changes in care as a result, according to a new study presented at the Society of Critical Care Medicine's (SCCM) 2023 Critical Care Congress.

Media Coverage
January 31, 2023

Health Rounds: Newer genetic tests underused in critically ill kids

Reuters

Today we highlight three potentially practice-changing studies…. When the reason for a child’s critical illness is unclear, rapid genetic testing often helps identify the problem and point doctors to the right treatment – but it is currently underused, researchers say.

Media Coverage
January 3, 2023

Deep-Learning Model Can Detect Disease-Causing Mosaic Mutations

Health IT Analytics

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.

Press Releases
October 27, 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.

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Tag: scientific publications

‘Astounding’ 41% of infant deaths associated with genetic disease, study finds

How New Genetic Disease Research May Help Reduce the Number of Infant Deaths

Study finds 41% of infant deaths associated with genetic diseases

Study suggests DNA sequencing could reduce infant deaths, often caused by genetic disease

How many babies die from genetic diseases because they’re not tested? Too many, researchers say

Study Finds Association of Genetic Disease and Infant Mortality Higher Than Previously Recognized: 41% of Infant Deaths Associated with Genetic Diseases

Genetic Testing in the PICU Prompts Meaningful Changes in Care

Health Rounds: Newer genetic tests underused in critically ill kids

Deep-Learning Model Can Detect Disease-Causing Mosaic Mutations

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

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