CHOP doctor compiles decades of information on mitochondrial disease

Lynne Adkins
June 22, 2020 - 11:46 am
Children's Hospital of Philadelphia

KYW Newsradio

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PHILADELPHIA (KYW Newsradio) — A physician at Children’s Hospital of Philadelphia has compiled a first-of-its-kind resource guide for other doctors and scientists working in the field of mitochondrial disease.

Mitochondrial disease is a collection of rare and inherited disorders that have a wide range of symptoms. Generally, the disorders restrict the ability of cells to make energy. 

Dr. Marni Falk, executive director of the Mitochondrial Medicine Frontier Program at Children’s Hospital, says the volume of information in this area has been exploding, and putting it all in one place will be a major resource.

“At least 20 novel gene disorders that cause mitochondrial disease are discovered every year for the past decade," Falk said. "So, this is enormously rapid growth of knowledge, and there may be only one or two publications about each, or there may be multiples. But it’s hard for people to access the information and to really understand the flavors and depth of knowledge that’s known.”

Falk says it was quite a challenge.

“To be able to create a book that’s readable by somebody at the bedside, at the clinic, at the time of diagnosis or in the research lab when they want to know what’s known about the gene more quickly. But each page provides a link that allows users to readily find all the other highly detailed and up-to-date details that might exist,” she said.

She says the guide is for physicians, clinicians and scientists trying to understand an issue that affects one in every 4,300 people.