Resources

NORD Rare Disease Database

The NORD Rare Disease Database is a broad and inclusive collection of rare diseases, built using data from recognized rare disease ontologies. If you would like to see detailed reports or information regarding specific rare diseases, click on the link. Before you make any medical decision, we advise you to ask a doctor.

"The Challenge of Rare Diseases": A Rare Diseases Introductory Article

Rare diseases, while each affecting relatively few individuals, collectively impact an estimated 25 to 30 million adults in the United States alone. In “The Challenge of Rare Diseases,” Dr. James K. Stoller examines the multifaceted difficulties faced by patients, clinicians, and researchers. The article highlights obstacles such as delayed diagnoses, limited access to expert care, and the high costs of disease-specific treatments. It also underscores the challenges researchers encounter in assembling study cohorts and securing funding. Importantly, Dr. Stoller points to encouraging progress through patient advocacy organizations, collaborative research networks, and policy measures that have begun to transform the landscape of rare disease care and investigation.