The family of a 13-year-old boy from Long Beach is asking for help as he remains hospitalized with a rare disease linked to ...

Canada’s rare disease diagnostic challenge cannot be solved by genomics and data alone; it requires investment in the people, expertise, and clinical systems needed to recognize rare diseases earlier ...

CureSPG50 and SickKids to pursue Phase 1/2 clinical trial of potential gene therapy for CLN7 Batten disease in Canada ...

Researchers from Kennedy Krieger Institute, University of Rochester Medicine and five other institutions released a new ...

As the grandfather of a girl with a rare disease, I’ve learned that for families like ours, hope often comes not as a cure, but as a clinical trial: carefully designed but inevitably exclusive. My ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases collectively impact millions of Americans, creating a healthcare system that’s ...

A new heritability-optimized scoring method called RovHer identifies the rare missense variants that explain the most genetic ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

Genetic diseases or conditions are those caused by an error or mutation (change) in a person’s DNA. These mutations can cause proteins to be built incorrectly ...

In the same way that policy can ignite biopharmaceutical innovation, it can also have a chilling effect. One of the most classic examples of this hot and cold effect of lawmaking is in the area of ...

Rare diseases present a fundamental challenge to healthcare economics: small patient populations, high development costs and ...