Mitochondrial Disease Research

If mitochondrial disease is suspected to be the underlying cause of your or your child’s medical concerns, you will have the opportunity to participate in various research studies ongoing at The Children’s Hospital of Philadelphia. Researchers are currently working on identifying better ways to diagnose and treat mitochondrial disease, identifying new genetic causes of mitochondrial disease, and characterizing exactly how mitochondrial disease affects the body. Dr. Marni Falk leads the Mitochondrial Research Affinity Group, bringing together researchers engaged in mitochondria-focused research.

In addition, the Center of Mitochondrial and Epigenomic Medicine (CMEM) was established as a Center of Emphasis in 2010. The Center is investigating mitochondrial and epigenomic dysfunction in a wide range of clinical problems, and one focus of the CMEM team is on preclinical studies relevant to developing therapies for mitochondrial dysfunction, for which few effective clinical treatments currently exist.

Research studies

Metabolic Consequences of Primary Mitochondrial Disease

The purpose of this research study is to identify the effects mitochondrial disease has on the body and to find ways to better diagnose mitochondrial disease.

Currently, there is no single laboratory test that is able to accurately diagnose mitochondrial disease in most people and no effective treatments exist for many individuals with mitochondrial disease. Identifying the effects of mitochondrial disease on body tissues such as blood and skin may offer the opportunity for improved diagnosis and treatment.

North American Mitochondrial Disease Consortium Patient Registry and Biorespository

The main purpose of this research study is to collect and store information about people with mitochondrial diseases to better understand the underlying causes of these diseases and develop new treatment options.

This study is being done by the North American Mitochondrial Disease Consortium (NAMDC). The NAMDC is a group of doctors and researchers in North America who specialize in mitochondrial disease. The Children’s Hospital of Philadelphia (CHOP) is a NAMDC site.

As a participating NAMDC site, we will collect and store biological samples from people with mitochondrial diseases to contribute to this important research. A collection of information (data) is called a registry, and a collection of samples (specimens) is called a repository or a biobank. The stored samples and information will be used for future research studies on mitochondrial disease. The future studies that will be done may involve various types of genetic testing. Genetic testing looks at pieces of DNA called genes, which provide the instructions needed to make our bodies work.

We hope that the information and samples in the registry and repository will help researchers learn more about mitochondrial disease and find the causes and treatments for these conditions.

The CHOP Pediatric Genetic Sequencing Project

The purpose of this research study is to learn more about newer types of genetic testing called Whole Exome Sequencing and Whole Genome Sequencing. Current genetic testing usually examines one gene or a few genes at a time. Exome and genome sequencing allow us to test most of a person’s genes at one time with a single test. This testing might identify the reason for a person’s unexplained condition or diagnosis.

We hope this study will help us identify the best method for:

  • Educating patients and families about exome and genome sequencing
  • Analyzing exome and genome sequencing data to identify results relevant to patients
  • Giving results to families in a clear, appropriate, and informative manner

Learn more about CHOP’s Pediatric Genetic Sequencing Project.

Recent publications

Reviewed on May 01, 2014