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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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

All Diseases > Pearson syndrome

Pearson syndrome

Alternative Names: Pearson Marrow-Pancreas Syndrome

Disease Category: Mitochondrial Disorders

A rare disorder usually caused by mutations of DNA in mitochondria (specialized cell structures that produce energy) that arise during embryonic development. Symptoms manifest in infancy, including low red and white blood cells, low platelet levels, fatigue, pallor (paleness), weakness, frequent infections, easy bleeding and bruising, abnormalities of blood and bone marrow cells when viewed under a microscope, scarring of the pancreas, liver steatosis (fatty liver), liver failure, diabetes, malabsorption, lactic acidosis (high blood lactate levels), ptosis (eyelid drooping), vision and hearing loss, seizures, and movement disorders.

Research groups studying this disease

Mitochondrial Disorders
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North American Mitochondrial Disease Consortium (NAMDC)

Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.

Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.