Mitochondrial Medicine Program News

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CHOP Researchers Characterize Hearing Loss among Genetic Subtypes of Mitochondrial Disease

Oct 14, 2022

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

Oct 4, 2022

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

Aug 31, 2022

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

Aug 29, 2022

New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.

Benefits of Exercise May Vary Greatly in Primary Mitochondrial Disease

Apr 28, 2022

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

Mar 23, 2022

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.

Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease

Sep 1, 2021

Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.

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