Rare diseases affect one in 17 people in the UK, but a Government initiative designed to improve their quality of life will ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

Most individuals diagnosed with a rare disease won’t live to become teenagers or adults. I knew what I had to do.

ROCKY HILL, Conn. (WFSB) - First responders continue to meet the request for a young girl with a rare disease. Earlier this ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

A mother has spoken about her "painful" experience over the potential end to her son's life-enhancing treatment for a rare ...

DALLAS - A North Texas mother diagnosed with a rare heart disease at 22 years old has been on a 14-year journey of faith and ...

At an event announcing the launch of the exhibition, Zhai Jin, a patient with osteogenesis imperfecta, a genetic bone ...

Impilo's prototype platform scours medical records to pinpoint symptoms of unusual illnesses that are often overlooked by ...

Rare Disease Day, recognized globally on the last day of February since 2008, is intended to raise awareness to the approximately 7,000 known rare diseases affecting 300 million people worldwide.

Prince Frederik of Luxembourg, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, has died after a ...

Prince Frederik, 22, was a founder and the creative director of a foundation that raised awareness of POLG disorder.