Spotlight Archives

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
November 7, 2022

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.

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.

Media Coverage
October 10, 2022

Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps

GenomeWeb

GENOMEWEB: [Newborn sequencing] research studies around the world are starting to get off the ground, ranging in size from 1,000 to more than 100,000 infants. At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, eight of these endeavors — based in the US, Europe, and Australia — provided outlines of their plans and goals.

Media Coverage
October 5, 2022

Can gene sequencing at birth prevent terrible diseases? Researchers hope so.

USA Today

USA TODAY: Every baby born in the United States is pricked in the heel shortly after birth. A blood sample is then analyzed to look for one of 20 to 30 inherited diseases. Now, doctors want to go even further: They want to look not just at blood, but at genes.

Press Releases
October 3, 2022

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

Media Coverage
August 25, 2022

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

GenomeWeb

GENOMEWEB: In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children's Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).

Press Releases
August 24, 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

Press Releases
July 26, 2022

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

Media Coverage
July 25, 2022

The earlier the better: New consortium leverages infant screening to accelerate treatment

PharmaVoice

PHARMAVOICE: Newborn screening is gaining prominence across the biopharma and healthcare industries amid efforts to detect and treat disease as early as possible.

News Center Archives

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Tag: Spotlight

Deep-Learning Model Can Detect Disease-Causing Mosaic Mutations

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

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

Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps

Can gene sequencing at birth prevent terrible diseases? Researchers hope so.

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

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

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

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

The earlier the better: New consortium leverages infant screening to accelerate treatment

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