Mitochondria are the batteries that produce more than 90 percent of your body's energy. Learn more facts about mitochondria and mitochondrial disorder.
"Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists."
Dr. Marni Falk and a team of international experts have created a resource to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition.
This resource from the Roberts Individualized Genetics Center explains how people with mitochondrial disease carry a mutation in a gene that affects the way their mitochondria work.
Watch a video where Marni Falk, MD, explains the requirements in precision mitochondrial medicine for addressing health system challenges in big data integration and mining, pre-clinical therapeutic modeling, innovative clinical trial design and team-based clinical care delivery.
This resource from the Roberts Individualized Genetics Center provides a visual overview about basic genetics and explains some of genetic test technologies available.
Watch a video to learn about mitochondria, which produce up to 90% of the body’s energy, and a wide range of chronic conditions that can occur when mitochondria malfunction.
Community Registries, genomic resources, and professional societies
If you or a family member has been diagnosed anywhere in the world with Leigh Syndrome, please enroll in the patient registry to make an important contribution to Leigh Syndrome research.
Founded in 1998 by doctors Richard Haas and Robert Naviaux, the MMS represents an international group of physicians, researchers and clinicians working towards advancing education, research and global collaboration in clinical mitochondrial medicine.
mitoSHARE is a worldwide patient-populated registry initiative stewarded by UMDF. The goal of the registry is to advance scientific research using data gathered from patients and families affected by mitochondrial disease.
The Mitochondrial Medicine team at CHOP provides this global resource to facilitate genomic and phenotype knowledge and data sharing and analysis across the global mitochondrial disease community.
Patient grants for travel & uncovered medical expenses
This fund is designed to help mito patient and families obtaining or seeking care at CHOP. These funds can help supplement travel related costs, uncovered medical expenses, or other financial hardships given the underlying diagnosis. Our families can apply once a year to this fund for support. To find out more information or if your needs qualify you can reach out to our social worker Addie Fishstein fishsteina@chop.edu.
This charity helps to support families with lodging while seeking care in the Philadelphia area. They have locations in Philadelphia, PA as well as Camden, NJ that offer transportation to CHOP.
International Mito Patients is a network of national patient organizations involved in mito. The national patient organizations support and advocate for patients, fund research, increase awareness and improve education in their country.
This site was created by a family affected by Leber’s Hereditary Optic Neuropathy (LHON). By sharing what we learned as we struggled to cope with LHON, and what we've learned over the years since it first happened, we hope to help make the adjustment process smoother for others.
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy and clinical research initiatives.
People Against Leigh Syndrome, (PALS), was formed in 2013 after William Martin, son of Neil and Lori Martin, was diagnosed with Leigh syndrome, a genetic neurometabolic disorder that can cause deterioration of the central nervous system, including the brain, spinal cord, and optic nerve.
The Champ Foundation supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.