Spotlight Archives | Page 4 of 4

Media Coverage
March 29, 2022

Dr. Stephen Kingsmore on Scaling Whole-Genome Sequencing for Uncovering Genetic Defects in Infants

Precision Medicine Podcast

PRECISION MEDICINE PODCAST: Dr. Kingsmore joins the Precision Medicine Podcast to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.

Media Coverage
December 27, 2021

Baby Fitz was born without an immune system. His treatment offers hope for curing rare diseases.

USA Today

Babies with Fitz's condition, commonly known as "bubble boy disease," rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.

Media Coverage
December 17, 2021

Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative

CDC Genomics and Precision Health Blog

In 2021, the Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of NHGRI identified its ten most significant peer-reviewed studies for 2021.

Media Coverage
December 3, 2021

2021 Year in Review: Whole-genome sequencing of critically ill babies proves its worth

Clinical OMICs

While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.

Media Coverage
October 18, 2021

Genomics for all? Setting the new standard for diagnosis — the gold standard!

RARE Revolution

Media Coverage
September 16, 2021

Finding Answers for Undiagnosed Patients with Rare Genetic Diseases

RARECAST Podcast

RARECAST PODCAST: RARECAST spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the institute's collaboration with Pacific Biosciences, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.

Media Coverage
September 16, 2021

A childhood of daily seizures. A medicine created just for her son. Will it work?

San Diego Union-Tribune

Press Releases
June 4, 2021

Rady Children’s Hospital Study Shows Rapid WGS for Critically Ill Babies Leads to Better Health Outcomes and Lower Medical Costs

Press Releases
June 2, 2021

From 13 Years to 13 Hours: Rady Children’s Institute for Genomic Medicine Demonstrates Fastest Time to Life-Changing Diagnosis for Infants with Rare Disease

Media Coverage
March 31, 2021

Rapid Genome Sequencing Can Save Babies With Rare Diseases, If They Can Get It

Forbes

News Center Archives

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Tag: Spotlight

Dr. Stephen Kingsmore on Scaling Whole-Genome Sequencing for Uncovering Genetic Defects in Infants

Baby Fitz was born without an immune system. His treatment offers hope for curing rare diseases.

Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative

2021 Year in Review: Whole-genome sequencing of critically ill babies proves its worth

Genomics for all? Setting the new standard for diagnosis — the gold standard!

Finding Answers for Undiagnosed Patients with Rare Genetic Diseases

A childhood of daily seizures. A medicine created just for her son. Will it work?

Rady Children’s Hospital Study Shows Rapid WGS for Critically Ill Babies Leads to Better Health Outcomes and Lower Medical Costs

From 13 Years to 13 Hours: Rady Children’s Institute for Genomic Medicine Demonstrates Fastest Time to Life-Changing Diagnosis for Infants with Rare Disease

Rapid Genome Sequencing Can Save Babies With Rare Diseases, If They Can Get It

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