At the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP), you will have access to the nation’s top pediatric specialists across the many clinical areas that may be part of your or your child’s care. We evaluate both children and adults in our clinic and embrace a coordinated approach, pulling in experts from across the hospital, to support your family.

Our team will help your family navigate the different types of challenges you may face and may include:

• Attending physicians
• Genetic counselors
• Nurse practitioners
• Registered nurses
• Social workers
• Laboratory researchers
• Clinical researchers
• Clinical coordinators

Leaders in mitochondrial research

Mitochondrial Medicine at CHOP is led by two powerhouse researchers:

• Marni J. Falk, MD, an attending physician, clinical geneticist and Executive Director of Mitochondrial Medicine for most of the past decade. Dr. Falk is an internationally known expert in the study, diagnosis and research of mitochondrial disease. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies in different tissue models.
• Douglas C. Wallace, PhD, Director of the Center for Mitochondrial and Epigenomic Medicine at CHOP. As a geneticist and evolutionary biologist, Dr. Wallace helped found the field of human mitochondrial genetics more than 40 years ago, showing that mitochondrial DNA (mtDNA) is inherited exclusively from the mother and that genetic alterations in the mtDNA can result in a wide range of metabolic and degenerative diseases. Dr. Wallace is also a key member of CHOP's Mitochondrial Medicine Program.

Today, researchers and clinicians at CHOP remain leaders in advancing our understanding of mitochondrial disease. Our dedicated research team focuses on investigating mitochondrial and epigenomic dysfunction in a wide range of clinical problems and finding solutions to improve patient outcomes.

There are many types of mitochondrial disease, which are now known to result from mutations in nearly 300 different genes, and researchers are still working to identify them and develop tests for diagnosis.

Research will help us develop effective therapies for patients with various forms of mitochondrial disease, and discoveries may also have applications for other more common conditions in which mitochondrial functioning failure plays a role, including Alzheimer’s disease. View our mitochondrial medicine clinical trials.

Visit our news and articles section to learn about some of our recent work dedicated to advancing diagnostics and treatment options for patients with these complex, difficult-to-treat disorders.