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

Julie Bowen, famed for Modern Family, faced a health scare at 29. She was diagnosed with sick sinus syndrome. Her sister ...

More information: Max A. Thorwald et al. Down syndrome with Alzheimer's disease brains have increased iron and associated lipid peroxidation consistent with ferroptosis, Alzheimer's & Dementia (2025).

This condition is linked to something called Swyer syndrome, which is rare and means someone might have XY chromosomes but develop as female. The whole testing process by the IBA got a lot of ...

Prader-Willi syndrome is caused by changes in gene expression in a specific portion of chromosome 15. Starting in childhood, it often leads to extreme, insatiable hunger.(Image credit: Catherine ...

Hantavirus Pulmonary Syndrome, a disease carried by rodents, lead to a fatal infection that took the life of Betsy Arakawa several days before the death of her husband, Gene Hackman.

Cushing disease and Cushing syndrome may have similar symptoms, but causes and treatments can differ. Learn more about the conditions, including symptoms, diagnosis, and outlook.

Summary Swyer-James syndrome is a complication of post-infectious bronchiolitis obliterans that causes inflammation and fibrosis of the bronchial walls. There are two types: asymptomatic, with most ...

It occurs in only about 1 in 80,000 births. Swyer syndrome usually isn’t diagnosed until a girl goes through puberty. It’s usually treated with hormone replacement therapy (HRT).

"Angelman syndrome is a complex neurodevelopmental disorder resulting from the loss of function of a specific gene called UBE3A, which plays a crucial role in brain development," Dr. Issac ...

In an interview with People magazine published Wednesday, Farrell discussed the foundation and life with his 20-year-old son James, who was diagnosed with Angelman syndrome as a child.

Here's what Angelman syndrome is. What is Angelman syndrome? Angelman syndrome is a rare neurogenic disorder, according to the Angelman Syndrome Foundation, diagnosed in 500,000 people worldwide.