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Find information and resources about the Research Institute's COVID-19 response
Find information and resources about the Research Institute's COVID-19 response
Mitochondria function as the biological batteries that produce energy within our body's cells. Depending on which cells have low-functioning mitochondria, mitochondrial disease can cause a wide range of health problems, including fatigue, weakness, exercise intolerance, developmental disabilities, seizures, strokes, vision or hearing loss, growth and feeding difficulties, hormone imbalances, as well as serious problems with heart, liver, or kidney function. On average, people with mitochondrial disease have 16 major medical problems. Researchers are continually working to identify new types of mitochondrial disease, which are now known to result from pathogenic variants in more than 350 different genes, and their various crossroads with other conditions.
This Frontier program seeks to characterize exactly how mitochondrial disease affects the body; develop improved diagnostic genetic, biochemical, tissue, and imaging testing; and lead the way toward precision therapies to treat and manage mitochondrial disease. Efforts under way in the Center for Mitochondrial and Epigenomic Medicine and across many collaborating specialties at CHOP converge to establish a deeper understanding of how energy production in mitochondria relates to a wide range of diseases and conditions.
The Mitochondria Medicine Program received Frontier status in Fiscal Year 2018.