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 ...
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 ...
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 ...
Rare diseases, often underdiagnosed and overlooked, affect over 36 million people in the EU and around 300 million worldwide.
The UK has the science base and ambition to transform outcomes for people living with rare diseases. Delivery now depends on ...
Creating a centralised database for genomic test data will help the UK match up patients with rare disease trials, a genetics ...
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 ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback