Our goals are to expand access to genomic testing and develop cutting-edge genomic testing to help more families get answers ...

Patient Advocacy Initiative staff speak on Notre Dame’s Rare Disease Day event and impact for the rare disease community.

Several rare disease patient populations received their first-ever FDA-approved drug since Rare Disease Day last year, ...

And today we have two segments on rare diseases. Later, we'll hear from NFL legend, Boomer Esiason. But first, I want to welcome Dr. Marshall Summar, CEO of Uncommon Cures, and Pamela Gavin, CEO of ...

ITF, IntraBio and Orchard are among the companies that have won FDA nods in the past year for Duchenne muscular dystrophy, ...

With the right policies, advanced science, and strong leadership in government agencies, Donald Trump has the power to save ...

Rare eye diseases are the leading cause of untreatable blindness in Europe and affect people of all ages. The RESTORE VISION ...

Ciarán was one year old when he was diagnosed with the condition, however, Gillian said she knew when he was born that ...

Williams, who has performed the National Anthem at baseball stadiums as part of Boehringer Ingelheim’s Breathless campaign, ...

Local nonprofit Jack's Generosity hosted an event called Unique Jeans to raise awareness for rare ARS gene diseases.

Zevra used the awareness day to roll out the “Learn NPC, Read Between the Signs” disease awareness campaign. The biotech won ...

Rare Disease Day, observed on Feb. 28, brings attention to uncommon diseases affecting populations of 200,000 or fewer. In ...