New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.

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.

Early research shows how mild defects in the “batteries” of cells in brain tissue can lead to behaviors similar to those of autism.

Improved and standardized variant curation guidelines will improve diagnostic accuracy for patients with mitochondrial disease evaluation.

CHOP’S Mitochondrial Medicine team helped bring this book for researchers and clinicians to life.

CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.

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.

New results in cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with mitochondrial disorders.

Dr. Cunningham writes about when and why should a muscle biopsy be considered in the evaluation of mitochondrial disease, and how to obtain a muscle biopsy.

Using the case of a 24-month-old African-American boy, Drs. Ganetzky and Goldstein discuss sideroblastic anemia and how it might be an indicator for multisystem mitochondrial disease.