Baby Fitz was born without an immune system. His treatment offers hope for curing rare diseases.
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.
Genome Testing Brings Quicker Diagnosis to Bronson Children’s Hospital Patients
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.
Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative
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.
2021 Year in Review: Whole-genome sequencing of critically ill babies proves its worth
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.
New Form of Genetic Testing for Infants Earns Medicaid Coverage in Michigan
In its daily e-briefing for December 2, 2021, the Precision Medicine Institute reviewed the availability of Medicaid coverage for rWGS in Michigan, and the various state projects spearheaded by RCIGM that helped set the stage for Medicaid coverage.
A Rare Moment? Advances Spurring Rare Disease Diagnosis and Treatment
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.
Artificial Intelligence Aiding Human Interpretation Of Sequenced Genomes
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 […]
Artificial Intelligence Can Rapidly Diagnose Rare Genetic Diseases
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 […]
Rady Children’s Team Presents Genomic Medicine Management Tool at ASHG
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 […]
Genomics for all? Setting the new standard for diagnosis — the gold standard!
Clinical Spotlight: Dr. Kingsmore on setting the new standard for diagnosis through accessible rapid genome testing.