Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Porphyrias
Porphyrias
Disease Category: Porphyrias
The porphyrias are a group of rare, inherited disorders caused by problems with one of eight enzymes necessary for the production of heme, an important component of hemoglobin and other proteins. The porphyrias are classified as either acute hepatic or cutaneous; the former are characterized by acute attacks of severe abdominal pain accompanied by nausea, vomiting and other symptoms, whereas the latter have various symptoms, including blistering or burning in response to sun exposure.