One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

The European consortium for Solving the Unsolved Rare Diseases has demonstrated the significance of international collaboration to address the unmet medical needs for rare diseases' diagnosis. More ...

Argyria is caused by a buildup of silver in the body, which discolors the skin.

Hundreds of children developed the disease in France in the last nine years (Picture: Shutterstock/Natchar Lai) A rare Renaissance-era condition known as ‘Sailor’s disease’ is making a ...

The pair had helped identify a still-unnamed disease, which they had tied to a particular gene and to a particular somatic mutation—a genetic change that had not been passed down from a parent and was ...

A rare black moon will rise at the end of the year, and it will give both professional and amateur astronomers a great opportunity to view some far-away celestial bodies. A black moon is the term ...

The vast majority of the time the unknown disease turns out to be something familiar. It's the rare case where it's a novel pathogen that goes on to spread globally, as happened with COVID.