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 ...

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 ...

Rare Disease Day, observed on February 28th, aims to raise awareness about rare diseases and the challenges faced by patients worldwide.