How to Find a Disease Specialist
Locate healthcare providers and researchers who have knowledge of your condition.
Tips for the Undiagnosed
Navigate the process of trying to obtain a diagnosis.
NIH Report on Research on Rare Diseases in Children, FY 2000 to FY 2005
Report of the National Commission on Orphan Diseases - February 1989
•Appendices - Volume I
•Appendices - Volume II
1979 Interagency Task Force Report on Significant Drugs of Limited Clinical Value
IOM Report-Rare Diseases and Orphan Products: Accelerating Research and Development
Rare diseases collectively affect millions of Americans of all ages. They often are serious and life altering; many are life threatening or fatal. Because each rare disease affects a relatively small population, however, it can be challenging to develop drugs and medical devices to prevent, diagnose, and treat these conditions. We still lack even a basic understanding of the cause or underlying molecular mechanisms of many rare diseases. To help in accelerating rare diseases research and product development, the National Institutes of Health (NIH), with support from the Food and Drug Administration (FDA), asked the Institute of Medicine (IOM) to examine the opportunities for and obstacles in developing drugs and medical devices for treating rare diseases.