As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.

I have spent the last 15 years working in rare diseases, working with some of the most dedicated ambassadors for rare disease, from researchers to patient advocates to patients and families.

One in 10 Americans suffers from a rare disease, a statistic that casts the label “rare” in new light. It also drives the work of the National Organization for Rare Disorders, a coalition of ...

Navigating the regulatory landscape for clinical trials, particularly for rare diseases like celiac disease, presents a unique set of challenges. The complexities arise from both the intricate ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an ...

Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly ...

Kendall Bryce, 25, has aquagenic urticaria - a rare condition which causes her skin to swell and break out in hives whenever she comes into contact with water. She says she feels pain whenever she ...

Guillain-Barre Syndrome is a rare but serious condition that requires prompt medical attention. Preventive measures, such as maintaining hygiene and consuming safe food and water, are essential to ...

Today, the Governments of Canada and the province of Ontario signed the National Strategy for Drugs for Rare Disease (DRD) agreement to invest over $535 million over three years to improve access to ...

Rare diseases present unique challenges that demand our immediate attention and action — not only because of the financial and emotional burden they impose on families[i] but also because of the ...

WashU Medicine researcher Patricia Dickson, MD, studies rare genetic diseases called lysosomal storage disorders. Dickson, director of WashU Medicine's Undiagnosed Diseases Network (UDN) Diagnostic ...