The scientific community has identified more than 10,000 rare diseases, but the path to accurately diagnosing and treating these illnesses has been fraught with regulatory and logistical hurdles ...

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

Rare Diseases: Numbers and Statistics — There are more than 7,000 rare diseases. — In the U.S., rare diseases are defined as less than 200,000 patients.

An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals. This ...

Expansion of the Medicare drug price negotiation rare disease drug carve-out would unnecessarily limit the number of drugs ...

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

The term “rare disease” comprises more than 7,000 diseases, each affecting fewer than 200,000 Americans, collectively impacting 25 million to 30 million individuals. 1 Exome sequencing tests ...

Perianal Paget’s disease (PPD) is a rare condition which is often associated with underlying malignancy. To definitively rule ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular ...

Two dead, another infected, as rare brain disease reported in one Oregon county. Three cases of Creutzfeldt-Jakob Disease, which causes sponge-like holes to develop in the brain, have been found ...