newborn screening Archives

Press Releases
December 5, 2024

BeginNGS® Newborn Screening by Genome Sequencing Shown to be Safe and Effective in Two Clinical Studies

Two studies published in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States and reported a 97 percent reduction in false positives based on a method derived from human evolution.

Media Coverage
June 21, 2024

Pioneering studies show promise in sequencing a baby’s genome at birth

Washington Post

Washington Post: Early research study results show that genome sequencing is catching conditions not found through traditional newborn screening.

Media Coverage
August 29, 2023

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing

AJMCtv

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

Press Releases
July 10, 2023

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.

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.

Media Coverage
October 3, 2022

Rady Children’s partners with data company to launch pediatric genomic screening

Becker's Hospital Review

BECKER'S HOSPITAL REVIEW: San Diego-based Rady Children's Institute for Genomic Medicine has partnered with healthcare data company PlumeCare RWE to create a pilot program that will screen newborns for 400 genetic diseases.

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
September 23, 2022

Building a Pipeline of Therapies to Treat Rare Mineralization Disorders

Global Genes Podcast

GLOBAL GENES PODCAST: Global Genes spoke to spoke to Axel Bolte, co-founder and CEO of Inozyme, about ENPP1 deficiency, its lead experimental therapy to treat the condition, and its work with Rady Children’s Institute for Genomic Medicine to improve the diagnosis of newborns.

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).

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Tag: newborn screening

BeginNGS® Newborn Screening by Genome Sequencing Shown to be Safe and Effective in Two Clinical Studies

Pioneering studies show promise in sequencing a baby’s genome at birth

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

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 partners with data company to launch pediatric genomic screening

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

Building a Pipeline of Therapies to Treat Rare Mineralization Disorders

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

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