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.
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All Diseases > Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA Depletion Syndrome
Alternative Names: mtDNA Depletion Syndrome
Disease Category: Mitochondrial Disorders
A term characterizing a group of inherited disorders in which copies of the DNA (genetic material) within mitochondria (specialized cell structures that produce energy) are severely reduced in number. This results in impaired energy production required for proper functioning of the body's tissues and organs. These disorders primarily affect the brain, liver, digestive system, nerves, and skeletal muscles.
Research groups studying this disease
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.