CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish
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This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
Mitochondrial Medicine Program News and Updates
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CHOP Researchers Lead International Expert Panel, Curating Evidence for Over 100 Genes Causing Leigh Syndrome Spectrum
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Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.
Researchers Find COVID-19 Causes Mitochondrial Dysfunction in Heart and Other Organs
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While mitochondrial function recovered in the lungs, function did not recover in the heart and other organs, leading to long-term damage and a possible explanation for detrimental effects of “long COVID”.
CHOP Researchers Develop First Effective Preclinical Models for Most Common Genetic Cause of Leigh Syndrome
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Translational findings in new models of SURF1 mitochondrial disease also suggest that two drugs, already FDA-approved for other conditions, may prevent neurological decompensation in Leigh syndrome patients.
Share Your Family’s Mito Journey
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The more we know; the more we can help. Clinical and research leaders from CHOP’s Mitochondrial Medicine team encourage families to join mitoSHARE, a worldwide patient-populated registry initiative stewarded by the United Mitochondrial Disease Foundation (UMDF).
CHOP Researchers Develop First Viable Preclinical Model for Rare Form of Mitochondrial Disease
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The model helped identify two supplements that appeared to have therapeutic benefits.
CHOP Researchers Characterize Hearing Loss among Genetic Subtypes of Mitochondrial Disease
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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.
CHOP Researchers to Lead Department of Defense Project to Measure Mitochondrial Function and Better Detect Mitochondrial Disease
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Nearly $12 million awarded for four-year study to develop noninvasive methods across four related, multidisciplinary projects.
CHOP Researchers Discover First Therapeutic Option for Patients with Rare and Aggressive Form of Mitochondrial Disease
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Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
Vitamin Treatment May Alleviate Exercise Intolerance Caused by Mitochondrial Impairment
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New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.