Spotlight Archives | Page 3 of 5

Media Coverage
February 28, 2023

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

Fortune

Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.

Media Coverage
February 9, 2023

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

STAT

Media Coverage
February 9, 2023

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

San Diego Union-Tribune

Media Coverage
February 8, 2023

Dr. Stephen Kingsmore: Reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years

KGI: Innovation in Applied Life Sciences & Healthcare Podcast

KGI: INNOVATION IN APPLIED LIFE SCIENCES & HEALTHCARE PODCAST: In this episode, Dr. Stephen Kingsmore discusses reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years.

Media Coverage
January 31, 2023

Genome Sequencing May Improve Care in PICU

Pharmacy Practice News

The use of diagnostic rapid whole-genome sequencing (rWGS) can play a crucial role in guiding treatment for critically ill children, researchers reported at the 2023 Critical Care Congress, in San Francisco.

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.

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Tag: Spotlight

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

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

Dr. Stephen Kingsmore: Reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years

Genome Sequencing May Improve Care in PICU

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.

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