genomic newborn screening Archives

Media Coverage
February 14, 2023

Stephen Kingsmore’s quest to test every baby with genome sequencing

The Harry Glorikian Show

The Harry Glorikian Show: Stephen Kingsmore talks with Harry Glorikian about the power of rapid Whole Genome Sequencing™, how far we've come in adoption, and much more.

Media Coverage
October 26, 2022

New genetic newborn screening test is a ‘quantum leap forward’

WISH-TV, Indianapolis

WISH-TV, Indianapolis: A new screening for newborns could expand the number of genetic diseases infants are tested for before they leave the hospital. The project is called BeginNGS, with the NGS standing for Newborn Genomic Sequencing.

Media Coverage
October 10, 2022

Newborn Screening Awareness and Novel Diagnostic Tool

Rare Disease Report

RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.

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).

Media Coverage
August 22, 2022

From Guthrie to Genomes: The Continued Evolution of Newborn Screening

CDC Genomics & Precision Health Blog

The CDC Genomics & Precision Health blog reviews the state of newborn screening today, including the BeginNGS program.

News Center Archives

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Tag: genomic newborn screening

Stephen Kingsmore’s quest to test every baby with genome sequencing

New genetic newborn screening test is a ‘quantum leap forward’

Newborn Screening Awareness and Novel Diagnostic Tool

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

From Guthrie to Genomes: The Continued Evolution of Newborn Screening

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