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.
Mitochondrial Medicine News and Updates
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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.
CHOP Researchers Find Effective Combination of Therapies for Managing Mitochondrial Disease
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Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.
CHOP Researchers Demonstrate How Defects in Mitochondria May Lead to Autism Spectrum Disorder
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Early research shows how mild defects in the “batteries” of cells in brain tissue can lead to behaviors similar to those of autism.
International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
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Improved and standardized variant curation guidelines will improve diagnostic accuracy for patients with mitochondrial disease evaluation.
First-of-its-Kind, All-in-One Resource for Genetics of Mitochondrial Disease Released
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CHOP’S Mitochondrial Medicine team helped bring this book for researchers and clinicians to life.
CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease
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CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.
Doug Wallace Honored with 2019 Charles L. Hoppel Prize for Outstanding Contributions in Mitochondrial Research
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The international prize is given each year to a scientist who has demonstrated outstanding achievement in research in the broad field of mitochondrial biology.
Genetic Testing 101: What Parents Need to Know
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If your child has symptoms of an inherited condition or one that might be caused by a spontaneous gene mutation, your doctor may recommend genetic testing. Here's what you need to know.
Gene Behind Long-Recognized Mitochondrial Disease Has Highly Varied Effects
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For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms.