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

Big cats have long captivated our imaginations with their majestic beauty and powerful presence. However, beyond their ...

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 ...

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

Jordan Adams - one half of The FTD Brothers - has revealed his 'big dream' since quitting his job following his diagnosis ...

Scientists have identified a rare genetic mutation in ITSN1 that increases the risk of Parkinson’s disease by up to tenfold, ...

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

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

A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a ...

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.