Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.
The Food and Drug Administration’s rare pediatric disease priority review voucher program, which has been providing incentives for lifesaving innovations since 2012, is doomed to disappear unless ...
A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...
When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...
Los Angeles-based Cedars-Sinai has been designated as a Rare Disease Center of Excellence by the National Organization for Rare Disorders. The health system joins a group of 46 other healthcare ...
The UK has the science base and ambition to transform outcomes for people living with rare diseases. Delivery now depends on ...
Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...
A study led by the Research Institute of the McGill University Health Center (The Institute) has identified a rare genetic ...
The Rare Disease Researcher Interest Group seminar series brings together researchers from different fields to learn about and discuss rare disease research, regardless of experience level with rare d ...
RWJUH earns Rare Disease Center of Excellence designation from NORD, becoming New Jersey's first recognized center for rare disease care.
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