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2022

Rady Children’s Fast Genomic Sequencing Initiative Gains Steam

Health Data Management

Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.

January 4, 2022

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.

December 27, 2021

Genome Testing Brings Quicker Diagnosis to Bronson Children’s Hospital Patients

WWMT News Channel 3 (Kalamazoo, MI)

Project Baby Deer is allowing Bronson Children’s Hospital to diagnose genetic disorders in as fast as 30 hours; something that used to take nearly 30 days.

December 22, 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.

December 17, 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.

December 3, 2021

A Rare Moment? Advances Spurring Rare Disease Diagnosis and Treatment

Clinical OMICs

While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.

December 1, 2021

Artificial Intelligence Aiding Human Interpretation Of Sequenced Genomes

Diagnostics World

A “quiet revolution” has been underway over the past year, exponentially growing the number of genetic variants discoverable by genome sequencing, according to Stephen Kingsmore, M.D., president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego. Notably, it is now possible to identify an enormous number of structural variants—large genomic alterations that […]

October 28, 2021

Artificial Intelligence Can Rapidly Diagnose Rare Genetic Diseases

Medscape

An artificial intelligence (AI)-based algorithm can quickly diagnose rare genetic diseases in critically ill children with high accuracy, allowing earlier treatment, according to a new report. “This study is an exciting milestone demonstrating how rapid insights from AI-powered decision support technologies have the potential to significantly improve patient care,” Dr. Mark Yandell, professor of human […]

October 21, 2021

Rady Children’s Team Presents Genomic Medicine Management Tool at ASHG

GenomeWeb

A Rady Children’s Institute for Genomic Medicine-led team has developed an automated management guidance system for pediatric patients with rare genetic conditions who have been testing by clinical sequencing. RCIGM President and CEO Stephen Kingsmore outlined the resource and rationale for it during a session on omics-based diagnostic approaches at the American Society of Human Genetics annual […]

October 20, 2021

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

RARE Revolution

Clinical Spotlight: Dr. Kingsmore on setting the new standard for diagnosis through accessible rapid genome testing.

October 18, 2021