Spotlight 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
October 10, 2024

Tennessee’s Medicaid program started covering DNA mapping to find genetic conditions

WPLN Tennessee Public Radio

Media Coverage
July 16, 2024

A teenager faced constant seizures. Could a drug developed just for him stop them?

Endpoints

ENDPOINTS: The story of a 14-year-old with an extremely rare genetic disease who was treated at Rady Children's Hospital – San Diego with a drug specially developed for him by the N-Lorem Foundation.

Media Coverage
June 24, 2024

Hudson the Hero: Genetic testing solves a medical mystery

Healthy Kids Magazine

Healthy Kids Magazine: At 13 months, seemingly out of nowhere, Hudson started having trouble breathing.

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.

Up to Speed Blog
November 16, 2023

Brain & Behavior Research Foundation Awards Young Investigator Grant to Researcher at Rady Children’s Institute for Genomic Medicine

Rady Childrens Institute for Genomic Medicine (RCIGM) is proud to announce that Aaron D. Besterman, MD, received a Young Investigator Grant from the Brain & Behavior Research Foundation.

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
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.

Press Releases
July 25, 2023

Rady Children’s Institute for Genomic Medicine Co-develops Fast Genetic Variant Testing with In Vivo BioSystems

This study will help medical teams determine the pathogenicity of a variant in the STXBP1 gene – which can cause severe seizures, intellectual disability, and developmental delays -- to swiftly end the diagnostic odyssey for patients and their families.

News Center Archives

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Tag: Spotlight

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

Tennessee’s Medicaid program started covering DNA mapping to find genetic conditions

A teenager faced constant seizures. Could a drug developed just for him stop them?

Hudson the Hero: Genetic testing solves a medical mystery

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

Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infants

Brain & Behavior Research Foundation Awards Young Investigator Grant to Researcher at Rady Children’s Institute for Genomic Medicine

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

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

Rady Children’s Institute for Genomic Medicine Co-develops Fast Genetic Variant Testing with In Vivo BioSystems

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