Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.
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 ...
A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...
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 ...
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 ...
Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely ...
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 ...
A rare disease or disorder is defined as affecting fewer than 200,000 Americans each year. There are more than 7,000 different rare disorders. Combined, 1 in 10 Americans has a rare disorder, so the ...
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