Ultragenyx’s Rare Bootcamp gives families a roadmap to help drive research and develop new treatments for rare diseases.

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

Many challenges face developers of drugs for rare diseases, including the small number of patients available for clinical trials, genotypic and phenotypic diversity within a disorder, poorly ...

Millions live with rare diseases, yet most remain without a clear diagnosis. Advances in genomics, AI, and multi-omics are transforming how we identify and understand these conditions. Global ...

New research from the MRC Laboratory of Medical Sciences (LMS) provides a powerful, scalable method for finding treatments for rare genetic diseases using tiny, transparent worms. Subscribe to our ...

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases. Here are some of the stories we received. Living with a rare disease ...

The selected projects demonstrated significant potential to address unmet needs within these rare communities. The recipients include: Fabry disease: Mitra Tavakoli, University of Exeter, Exeter, UK, ...

Hundreds of millions of people worldwide are affected by rare diseases. Behind every case is a family enduring a diagnostic odyssey that can last for years. To improve how public health systems help ...

Across America, millions of parents of children with rare diseases are in a race against time, hoping that new treatments will be developed fast enough to save their kids. Thanks to advances in ...