The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive ...

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

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.

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