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

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

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

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

Our goals are to expand access to genomic testing and develop cutting-edge genomic testing to help more families get answers faster and disseminate the learnings from the new genomic sequencing in ...

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.

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

Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare disease. Of the 7,000 known RD conditions, 80% have a genetic origin, yet over ...

People with a faulty CDH1 gene are more likely to develop a rare type of stomach cancer. Women with this mutation also have a 39% to 52% lifetime chance of invasive lobular breast cancer (breast ...

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

Alltrna’s CEO Michelle Warner said that the approach allows for basket trials that can group patients with different diseases ...

A genetic mutation found in two human patients with schizophrenia also increased schizophrenia-related behaviors in mice with the same mutation, a rare finding of a direct genetic link to ...