Mitochondrial Medicine Program News

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CHOP Researchers Develop Method for Integrating Patient-Reported Outcomes for Patients with Primary Mitochondrial Disease

Mar 28, 2024

The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.

Web-Based Resource Provides Precise Classification of Dual Genome Variants of Primary Mitochondrial Disease

Feb 13, 2024

Quick-Mitome, developed by an international consortium of mitochondrial disease specialists, is available for non-commercial, non-clinical research.

CHOP Researchers Find About a Quarter of Mitochondrial Disease Patients Suffer from Malnutrition

Dec 19, 2023

The study also found that increased fat and protein intake may improve muscle strength and quality of life in patients with mitochondrial disease.

Children’s Hospital of Philadelphia Receives Multi-Million Dollar Gift from Holveck Family to Support Groundbreaking Osteosarcoma Research

Nov 16, 2023

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.

CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish

Sep 20, 2023

This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.

CHOP Researchers Lead International Expert Panel, Curating Evidence for Over 100 Genes Causing Leigh Syndrome Spectrum

Sep 13, 2023

Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.

Researchers Find COVID-19 Causes Mitochondrial Dysfunction in Heart and Other Organs

Aug 9, 2023

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”.

CHOP Researchers Develop First Effective Preclinical Models for Most Common Genetic Cause of Leigh Syndrome

Feb 21, 2023

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.

Share Your Family’s Mito Journey

Feb 2, 2023

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).

CHOP Researchers Develop First Viable Preclinical Model for Rare Form of Mitochondrial Disease

Oct 31, 2022

The model helped identify two supplements that appeared to have therapeutic benefits.

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