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 ...

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

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

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

With rare diseases affecting 1 in 10 Americans and over 7,000 known conditions, the Cherokee Nation is taking a significant ...

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

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

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

Prince Frederik of Luxembourg died from a genetic disease called PolG, but experts hope his passing could bring more awareness to the rare condition that impacted his life.

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 ...