30 million Americans have a rare disease, a little less than 10% of the population. But that total represents around 7,000 different diseases, with nothing in common other than their rarity.

The healthcare industry is set for growth due to advancements in targeted treatments and personalized care and the rapid ...

For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that ...

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 ...

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

Call and score variants from WGS/WES of rare disease patients.

Introduction: Diagnosis, treatment and management of rare diseases (RD) pose unique challenges due to their complex nature ... The survey was designed to be completed in 7 to 10 min and included ...

News on rare diseases, including the development of new treatments, the challenges of diagnosis and treatment and the stories of patients and their families. The page features in-depth reporting ...

Copyright: © 2025 Published by Elsevier Ltd. In this issue of The Lancet Digital Health, Johan Thygesen, Honghan Wu, and colleagues show, for the first time, how ...