About the Mitochondrial Medicine Program

The Mitochondrial Medicine Program at Children’s Hospital of Philadelphia (CHOP) is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational, and clinical research programs dedicated to improving the health of patients of all ages living with mitochondrial disease. The Mitochondrial Medicine Program is designated a Frontier Program by CHOP. Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help even more children and adults thrive.

CHOP has offered us hope toward treatment and even a cure.

About mitochondrial disease

Mitochondria function as the batteries to produce energy in the body’s cells. Depending on which cells have low-functioning mitochondria, the disease can cause a wide range of health problems, including fatigue, weakness, exercise intolerance, developmental disabilities, seizures, strokes, vision or hearing loss, growth and feeding difficulties, hormone imbalances, and serious problems with heart, liver or kidney function.

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Overall, approximately 1 in every 4,300 individuals in the United States has a mitochondrial disease. Given the various potential presentations that may occur, mitochondrial disease can be difficult to diagnosis and is often misdiagnosed. There are many types of mitochondrial disease, known to result from mutations in nearly 300 different genes. Researchers are still working to identify them and to develop tests for diagnosis and methods for treatment or management.

Learn more about mitochondrial disease.

How CHOP helps

The Mitochondrial Medicine Program focuses on finding the underlying cause of your or your child’s condition. This information helps us determine the best course of treatment for each patient while working in collaboration with your primary care physician, neurologist, and other specialists.

The Mitochondrial Medicine Program is located on the 12th floor of the Buerger Center for Advanced Pediatric Care at CHOP's Philadelphia Campus.

Learn more about scheduling an appointment and what to expect during your first visit.

There is such coordination of care at CHOP, and such interest in mitochondrial disease. We’re big supporters of the research they are doing. And we feel very lucky to have them. I can’t say enough about what they have done for us.

Smiling young boy

Why Choose Us

Mitochondrial Medicine has the nation’s top pediatric specialists and researchers advancing understanding of mitochondrial disease.

Young girl hugging stuffed animal

Your Initial Appointment

Learn more about scheduling an appointment and what to expect during your first visit with Mitochondrial Medicine.

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World's First Diagnosis

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A Family’s Fight

Brothers Matthew and Joshua participate in studies that may lead to new treatments for their condition, mitochondrial disease.