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

Rare Disease Day 2024 is an important opportunity to raise awareness about rare diseases and the need for research, diagnosis, and treatment options like orphan drugs. Learn the significance of ...

To mark Rare Disease Day, pharmaphorum spoke with Paola Pozzi, partner of telethon strategy at Sofinnova Partners, about the outlook for investment in this field of research.

With the FDA recently rejecting a drug application that aims to help those living with Barth Syndrome, one Bay Area family is ...

This Grade Two learner at Laerskool Rayton suffers from a rare disease called Fanconi anemia (FA), a rare and inherited ...

A Vancouver Island mother says she’s heartbroken after the B.C. government refused to reinstate funding for the only drug ...

June is Alzheimer's and Brain Awareness Month. Colbie Schueneman, 6, is sharing her story with KIF1A, also known as KAND.

If you think you are seeing more ticks, you are not imagining things. With the growth of the deer population come more ticks, which can spread maladies like Lyme disease and Rocky Mountain spotted ...

When Katie Doble was diagnosed with a rare cancer, she was given 16 months to live. Clinical trials gave her a second chance.

Spontaneous intracranial hypotension is a rare and often overlooked condition that could have cost one patient her life.And ...