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The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.
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Quick-Mitome, developed by an international consortium of mitochondrial disease specialists, is available for non-commercial, non-clinical research.
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The study also found that increased fat and protein intake may improve muscle strength and quality of life in patients with mitochondrial disease.
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Children’s Hospital of Philadelphia (CHOP) has received a $6.4 million gift from the family of Connor Boyle, a Central Bucks East High School graduate who died at age 18 from osteosarcoma. This three-year gift, named The Connor Initiative: Precision Therapeutics for Osteosarcoma & Rare Cancers, will support cutting-edge research in osteosarcoma and other rare cancers.
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This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
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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.
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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”.
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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.
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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).
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The model helped identify two supplements that appeared to have therapeutic benefits.