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

Early research shows a one-time gene therapy has potential for addressing both the liver and lung disease that patients with ...

The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely ...

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

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.

Two more people have been potentially cured of HIV after receiving stem cell transplants to treat blood cancer or bone marrow ...

Frederik de Nassau died on March 1, in Paris, a day after internationally recognized Rare Disease Day, which takes place on ...

Melanism is a rare, random genetic anomaly believed to be caused by mutations in the melanicortin 1 receptor gene (MC1R) which leads to an over production of the pigment melanin. It’s difficult ...

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

While both are called medullary carcinoma, these cancers differ in many ways: ...