Spotlight Archives

Media Coverage
February 21, 2024

Super-speedy sequencing puts genomic diagnosis in the fast lane

Nature

NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.

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.

Media Coverage
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

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.

Press Releases
July 11, 2023

Genome Sequencing Nearly Twice as Effective as a Targeted Gene-Sequencing Test at Diagnosing Genetic Disorders in Newborns and Infants

Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.

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
March 28, 2023

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

New Zealand Doctor

NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.

News Center Archives

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Tag: Spotlight

Super-speedy sequencing puts genomic diagnosis in the fast lane

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

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

Genome Sequencing Nearly Twice as Effective as a Targeted Gene-Sequencing Test at Diagnosing Genetic Disorders in Newborns and Infants

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

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

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