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Program leads way in diagnosing rare diseases

Key Largo Local10 News

Key Largo’s Local10 News covers the impact of Project Baby Manatee. 

September 6, 2023

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing


AJMCtv: Stephen Kingsmore discusses the types of disparities seen in genetic testing as the BeginNGS phase 2 clinical trial is underway.

August 29, 2023

Interview with Patricio A. Frias, President and CEO of Rady Children’s Hospital – San Diego

Becker’s Healthcare Podcast

Becker’s Healthcare Podcast: RCHSD President and CEO Patricio A. Frias shares the exciting innovative research being conducted at Rady Children’s Institute for Genomic Medicine. 

August 14, 2023

Dr Stephen Kingsmore Discusses Rapid Diagnostic Genome Sequencing Program for Newborns


Stephen Kingsmore, MD, DSc, president and CEO, at Rady Children’s Institute for Genomic Medicine, shares details of the BeginNGS newborn screening program and its future goals.

August 14, 2023

Rady’s newborn screening program prepares to expand

San Diego Union-Tribune

SAN DIEGO UNION-TRIBUNE: Rady Children’s hospital has set its sights on expanding the use of a screening test that it says can detect 411 genetic disorders in newborns.

August 3, 2023

Too many treatable diseases go unnoticed. This could change that.

Washington Post

WASHINGTON POST: DNA sequencing to diagnose newborns could end up saving much more money — especially if done for babies who are sick. In a study funded by the state of California called Project Baby Bear, researcher Stephen Kingsmore found that sequencing the whole genomes of 178 infants hospitalized in intensive care saved $2.5 million.

July 26, 2023

Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

MedPage Today

MedPage Today: Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found.

July 12, 2023

WGS More Effective than Targeted Gene Sequencing For Diagnosing Genetic Diseases in Newborns

Genetic Engineering & Biotechnology News

GENETIC ENGINEERING & BIOTECHNOLOGY NEWS: A national study, led by researchers at Tufts Medical Center, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

July 11, 2023

A new study of sick infants sees potential in DNA sequencing, but also a need for better ways to interpret the genome


STAT NEWS: There’s growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.

July 11, 2023

Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are

U.S. News & World Report

U.S. NEWS & WORLD REPORT:  Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach — whole genome sequencing — appears far superior to another.

July 11, 2023

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