Nager syndrome (NS) is an extremely rare disease that causes developmental problems and anomalies in facial bone structures and limbs. While the causative gene is known, its underlying mechanisms ...

Colin Farrell and Emma Fogarty, who is Ireland's longest-surviving person battling the genetic condition epidermolysis ...

Sam Gallo is the founder of the Louisiana Diabetes Association and the man responsible for centralizing research and data for ...

When she was 10 months old, Carly was diagnosed with progeria, an extremely rare genetic disorder that accelerates the aging ...

The Minnesota Rare Disease Advisory Council works to help those with rare diseases get screened, diagnosed and treated.

Hundreds of people across Yorkshire have been treated in hospital for a rare skin disease, show new figures.

Karl Nelsen and his 11-year-old daughter Sammi both have a rare disease. Ectodermal dysplasia can cause changes in skin and nails, loss of hair, dental challenges and issues with body temperature ...

Often forced to become experts on their own treatment, rare-disease patients are modeling the collective care and mutual aid networks that can help ensure everyone's long-term survival.

In 2023, Gallo was diagnosed with Grover’s disease, an uncommon and painful skin disease that presents as an itchy rash. In keeping with his success with the American Diabetes Association ...