A local family said they now have important answers about their daughter thanks to the work of the Indiana University Rare ...

Encelto is small, semi-permeable capsule implanted in the eye that contains allogeneic retinal pigment epithelium cells ...

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.

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 ...

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

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

The Cherokee Nation Health Services Rare Disease Task Force has released a report outlining progress made over the past year ...

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 ...