First-of-its-Kind, All-in-One Resource for Genetics of Mitochondrial Disease Released

Knowledge about mitochondrial disease at a genetic level has grown by leaps and bounds since its first description more than three decades ago. Now, for the first time, researchers and clinicians can hold in their hands a one-stop resource to readily learn about each gene implicated in mitochondrial disease, thanks to a team effort led by Children’s Hospital of Philadelphia’s (CHOP) Mitochondrial Medicine Frontier Program.

Essentially the first-ever readable encyclopedia for doctors and scientists describing all of the genes in which pathogenic variants have been shown to cause mitochondrial disease, Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations, published by Elsevier in May, provides expert-curated knowledge of 256 genes that are now understood to directly impact mitochondria and contribute to a wide range of human diseases.


Marni Falk Marni Falk, MD
Marni Falk, MD, an attending physician, associate professor, and Executive Director of the Mitochondrial Medicine Frontier Program at CHOP, envisioned and served as the book’s editor. As the foreward to the Compendium begins, “Mitochondrial disease has meant many things to many patients and clinicians, an enigma that has taken several decades for the medical and scientific community to begin to effectively clarify as the great many causal genes and seemingly endless spectrum of clinical manifestations have slowly become illuminated.”

The Compendium was designed to build off of meticulously curated genetic and disease information compiled as part of the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource supported by the United Mitochondrial Disease Foundation (UMDF) to provide doctors and research scientists with widely accessible genomic analysis tools and accurate mitochondrial disease, gene, and variant data in both nuclear and mitochondrial genomes.

“Mitochondrial disease manifests itself with a wide variety of clinical symptoms, and in so many cases, identifying the precise underlying genetic cause plays a critical role in how the disease presents and should be treated in a given patient,” Falk said. “This Compendium provide an invaluable resource to those on the frontlines of patient care and research, making decades of learnings readily available to help facilitate improved understanding of mitochondrial disease.”

Falk said that while this book is a milestone for the mitochondrial medicine community, she also expects it to be the first of many.

“Even since the book has been edited and printed, additional genes associated with mitochondrial disease have continued to be discovered, typically at a rate of 10 to 20 novel gene disorders each year,” Falk said. “Work to include these newly recognized mitochondrial disease genes in a second edition has already begun.”

You can find a link to the Compendium and other helpful resources on the Mitochondrial Medicine page.

/CHOP Media Release. View in full here.