An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks ...

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

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

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.

This article is the product of a POLITICO Working Group presented by Sanofi and UCB. Of all the obstacles standing in the way of optimal care for rare disease patients and their families, doctors are ...

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.

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

Drug coverage for four drugs used to treat some rare diseases was announced in Fredericton on Wednesday under a $32 million deal signed by the federal and provincial governments. Under the ...

Argyria is caused by a buildup of silver in the body, which discolors the skin. Symptoms: The main symptoms of argyria are the skin developing a bluish-gray or gray tint, the fingernails growing ...

IT’S USEFUL TO NOT STOP LOOKING. THE UNDIAGNOSED DISEASES NETWORK TAKES ON CASES THAT MOST WOULD DISMISS AS TOO COMPLEX, TOO PERPLEXING, OR SIMPLY TOO RARE TO SOLVE. SO THERE’S THOUSANDS OF ...

Jan. 13, 2025 (GLOBE NEWSWIRE) -- Agios Pharmaceuticals, Inc. (Nasdaq: AGIO), a leader in cellular metabolism and pyruvate kinase (PK) activation pioneering therapies for rare diseases ...