A new research project focusing on rare genetic mutations that are linked to cystic fibrosis just received $600,000 in ...

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 ...

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

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

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: ...

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

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.

Parkinson’s disease (PD) affects nearly 2% of adults over 65, making it the second most common neurodegenerative disorder. It ...

Prince Frederik of Luxembourg has died of the rare genetic disease he was born with 22 short years ago after saying goodbye ...

X-linked severe combined immunodeficiency disease (X-SCID) is a rare genetic disorder characterized by profound defects in ...