After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a ...

An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals.

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare disease diagnosis.

From Adrenoleukodystrophy to Zollinger Ellison Syndrome, there are currently over 7,000 diseases identified as rare. In the U.S., the Orphan Drug Act of 1983 defines a disease as “rare” if it affects ...

As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.

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.