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 GARDinfo@nih.gov.

All Diseases > Mitochondrial Disease

Mitochondrial Disease

Disease Category: Mitochondrial Disorders

Chronic, often inherited, multisystemic, genetic disorders involving dysfunction of the mitochondria (specialized cell structures that produce energy). These disorders affect 1 in every 5,000 people. Due to insufficient energy, the body's tissues and organs become dysfunctional. Symptoms and signs manifest primarily in the brain, eyes, ears, nerves, muscles, kidneys, liver, and/or heart. Severe cases may lead to failure of one or more organs.

Research groups studying this disease

Mitochondrial Disorders
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North American Mitochondrial Disease Consortium (NAMDC)

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

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

Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.