The Center of Mitochondrial and Epigenomic Medicine (CMEM) is poised to advance the understanding of, and potential treatments for, a multitude of disorders and diseases by focusing on mitochondria, tiny structures within our cells that produce 90 percent of the body's energy. Because nothing in the cell works without energy, scientists and physicians need to understand the flow of energy and the disturbance of the flow of energy during disease. Also essential is communication between the mitochondria and nuclear DNA, which enables the mitochondria to signal to the nucleus that there is enough energy to grow and reproduce. This crosstalk is mediated by the epigenome, inherited modifications in gene expression caused by tags or proteins that bind to DNA.

Led by Douglas C. Wallace, Ph.D., a pioneer and internationally prominent scientist in the field of human mitochondrial genetics, the center is investigating mitochondrial and epigenomic dysfunction in a wide range of clinical problems such as autism, epilepsy, heart disease, diabetes and obesity, forms of blindness, Alzheimer and Parkinson disease, cancer, and aging. In addition to examining the essential roles of mitochondria, the CMEM team is exploring how mitochondrial genes influence adaptation to extremes in our environment such as arctic cold, tropical heat, or high altitude. CMEM also focuses on preclinical studies relevant to developing therapies for mitochondrial dysfunction, for which few effective clinical treatments currently exist.


Our Center is founded on the premise that systemic mitochondrial energy deficiency, not organ-specific structural defects, underlies most metabolic and degenerative diseases, cancer, and aging. This transformative idea suggests powerful new approaches for diagnosis and treatment of both rare and common diseases.


The mission of the Center for Mitochondrial & Epigenomic Medicine (CMEM) is to unite the biomedical scientists, clinicians, and patients and their families within The Children’s Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania to determine the causes and generate the cures for metabolic and degenerative diseases, cancer, and aging. To achieve this ambitious goal, the Center is applying a new biomedical paradigm which posits that most “complex” diseases result from perturbations in the mitochondrial and cellular energy generating systems rather than from organ-specific structural defects. These bioenergetic defects may result from mutations in the mitochondrial DNA or nuclear DNA, alterations in gene expression (epigenomics), or from environmental insults. Because energy is the paradigm to metabolic diseases such as diabetes, obesity, and cardiovascular disease; degenerative diseases such as autism, Down Syndrome, Leigh Syndrome, Alzheimer Disease, Parkinson Disease, forms of deafness and blindness, multiple sclerosis, heart disease, and renal failure; a variety of forms of cancer including prostate, breast colorectal; and aging which will ultimately affect everyone. Therefore, CMEM’s work will contribute to the health and wellbeing of all people: embryos, fetuses, children, adults, and elders

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