Biogen raised its annual profit forecast on Thursday, betting on strong demand for its rare disease drugs such as Skyclarys ...

Longtime drug developer Suma Krishnan was 51 when she cofounded Krystal Biotech. Now the company has one gene therapy on the ...

Katherine Stueland, GeneDx CEO, joins 'Squawk Box' to discuss diagnosing children with rare diseases, cost structure of the ...

The survey primarily focused on rare disease patients between the ages of 16 and 23, as well as caregivers between 25 to 55 years old. Hemophilia, albinism, cystic fibrosis and Gaucher disease were ...

Thousands of years of endogamy may have shaped genetic disease risk in India. Scientists are now trying to identify those ...

A Fontana child is fighting for her life against a rare genetic disorder called Batten disease while her parents are trying ...

The pharmaceutical industry has a fresh sense of direction after President Donald Trump’s tax-and-spending law included a ...

From symptoms to the illness' risk factors — here’s what you need to know about the disease, which can only be detected by ...

Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

Rising high school senior Khartik Uppalapati says he felt alienated when he was diagnosed with a rare lymphatic disorder ...

The Senate Parliamentarian reversed course on a small provision in the One Big Beautiful Bill Act that could boost cures for rare diseases.