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.
Mitochondrial Medicine Program News and Updates
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Benefits of Exercise May Vary Greatly in Primary Mitochondrial Disease
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While the benefits of exercise may outweigh the risks, genetic status should be considered when recommending it as therapy.
Children’s Hospital of Philadelphia President and CEO Releases Special Podcast Series in Recognition of Women’s History Month
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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.
CHOP Researchers Show Early Developmental Delays Predict Poor Long-term Outcomes in Leigh Syndrome Patients
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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.
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease
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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.
Fellow's Corner: Mitochondrial Disease: A Team Approach
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Patients with mitochondrial disease often undergo a diagnostic odyssey and require multiple specialists to treat their multisystemic disease.
Researchers at CHOP Join Forces to Study Connections Between Mitochondria and Cancer
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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.
Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease
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Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.
After a Decades-long Quest: Answers
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Researchers at CHOP discovered the genetic cause of two brothers’ early deaths. Now, their family seeks to further propel mitochondrial disease research with a $2 million gift.
Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder
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New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.