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In a retrospective study, researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) and Lund University in Sweden determined the prevalence, severity, and timing of onset for hearing loss across different genetic subtypes of mitochondrial disease.
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Nearly $12 million awarded for four-year study to develop noninvasive methods across four related, multidisciplinary projects.
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Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
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New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.
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While the benefits of exercise may outweigh the risks, genetic status should be considered when recommending it as therapy.
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Breaking Through with Madeline Bell’s “Women Leading the Way” series highlights stories about some of CHOP’s amazing women scientists, and the remarkable breakthroughs they’re making.
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Study makes the case for Leigh syndrome to be considered a potential diagnosis for infants and children with early developmental delays.
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New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
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Patients with mitochondrial disease often undergo a diagnostic odyssey and require multiple specialists to treat their multisystemic disease.
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The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.