As the FDA unveils a parade of initiatives aimed at accelerating drug development for rare diseases, experts appeal for a consistent approval process that will support and further catalyze momentum.

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

The Medicines and Healthcare products Regulatory Agency (MHRA) has announced plans to overhaul its approach to therapies for rare diseases. In a position paper, the agency highlighted that rare ...

More than 1 in 3 people globally are affected by neurological conditions, making neurological disorders the leading cause of disability and second leading cause of death worldwide.¹ Neurological ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to a unique genetic mutation to save an infant named Baby KJ from dying of a ...

SDG 3 - Good health and wellbeing and SDG 10 - Reduced inequalities. This Collection aims to highlight this important area of research and bring together researchers that cover the various aspects of ...

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare Diseases Clinical Research Network: $7.4 million over five years to renew the ...

A young US woman on the brink of starvation due to a rare condition had to embark on a 4,000-mile journey to save her life. Kristina Bayus-Roszak, 29, rapidly shed 30lbs (more than 13kg) in a mere six ...