CHOP Researchers Develop First Viable Preclinical Model for Rare Form of Mitochondrial Disease
Published on in CHOP News
The model helped identify two supplements that appeared to have therapeutic benefits.
Mitochondrial Medicine Program News and Updates
1 - 10 of 62
CHOP Researchers Characterize Hearing Loss among Genetic Subtypes of Mitochondrial Disease
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in Children's Doctor
Patients with mitochondrial disease often undergo a diagnostic odyssey and require multiple specialists to treat their multisystemic disease.