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 ...
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 ...
Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.
Rare diseases, often underdiagnosed and overlooked, affect over 36 million people in the EU and around 300 million worldwide.
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 ...
The UK has the science base and ambition to transform outcomes for people living with rare diseases. Delivery now depends on ...
I am a mother of a child with a rare disease who has undergone surgeries her entire life, yet is one of the strongest people I know. I’ve dedicated my life to creating structural changes in our health ...
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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