The brilliant and beloved physical comedian, Lenny Schultz has died at the age of 91. The news was confirmed by his son, Mark ...

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

Rare Disease Day was observed last Friday by a group of volunteers who took an hour out of their schedule to create awareness ...

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

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

Jonathan James, CEO, Hope Charities, discusses the critical importance of maintaining access to life-saving medications for ...

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

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

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

Genetically targeted technologies are built on Nobel Prize-winning science. They represent a scientific “quantum leap” that ...

Eight years after receiving a life-shattering diagnosis, a New Jersey mother credits an “amazing” new drug for stopping her ...