genomic newborn screening Archives

Media Coverage
October 9, 2023

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Precision Medicine Online

PRECISION MEDICINE ONLINE: Newborn genome sequencing projects focusing on seemingly healthy babies shortly after birth are forging ahead around the world, but their approaches differ according to each country's population structure, disease prevalence, healthcare system, treatment availability, and more.

Media Coverage
September 27, 2023

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Patient Worthy

PATIENT WORTHY: Catherine Nester spoke with Patient Worthy about the importance of newborn screening, the challenges of diagnostic delays, and how Inozyme is working to transform the treatment landscape for ENPP1 Deficiency and ABCC6 Deficiency, also known as Generalized Arterial Calcification of Infancy (GACI) types 1 and 2, respectively.

Media Coverage
September 25, 2023

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

Fierce Pharma

FIERCE PHARMA: In part two of this series, we turn our attention to rWGS and the pharmaceutical industry – specifically, the great potential of rWGS in drug development and patient access, and the important role pharma plays in advancing this promising technology.

Media Coverage
September 12, 2023

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

FIERCE Healthcare

FIERCE Healthcare: The rare disease journey can be long and difficult. rWGS could offer newborns a greater chance of successful diagnosis and intervention at birth.

Media Coverage
September 8, 2023

Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium

AJMCtv

Dr. Stephen Kingsmore explains how the BeginNGS consortium members help the project to continually evolve.

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.

Media Coverage
August 14, 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.

Media Coverage
August 14, 2023

Dr Stephen Kingsmore Discusses Rapid Diagnostic Genome Sequencing Program for Newborns

AJMCtv

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.

Media Coverage
August 3, 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.

Media Coverage
July 26, 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.

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Tag: genomic newborn screening

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing

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

Dr Stephen Kingsmore Discusses Rapid Diagnostic Genome Sequencing Program for Newborns

Rady’s newborn screening program prepares to expand

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

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