Cousins For A Cure is very proud to be a part of the United Mitochondrial Disease Foundation and wholeheartedly supports their mission to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected members and their families.
Deborah Murdock, Ph.D.,
Principal Investigator
Children’s Hospital of Philadelphia
Philadelphia, PA
Phase 1 - $200,000 (September 2019)
Phase 2 - $450,000 (November 2023)
The goal of this project is to develop therapies for individuals with MEPAN (mitochondrial enoyl CoA reductase-protein associated neurodegeneration) which is caused by a change in the MECR gene that is important for making fats in the mitochondria.
Individuals with MEPAN have movement disorders, deficiencies in vision, and difficulties speaking starting in childhood.
The researchers have used cells from Sydney’s skin to make a MEPAN cell line that can be turned into many other cell types, including neurons.
Updates on MEPAN progress 8/28/2023
Center for Mitochondrial and Epigenomic Medicine
Children’s Hospital of Philadelphia
On July 1, 2023, Mecr and MEPAN were the focus of a session of the UMDF’s Mitochondrial Medicine Symposium in Charlotte, NC chaired by Dr. Deborah Murdock.
At the UMDF meeting, Dr. Murdock presented what we have learned so far from studies on our mouse models of MEPAN. The MEPAN mouse has a movement disorder and an eye disorder with a normal life span, making it an excellent model for studying MEPAN and testing therapies. Studies on the brain of the MEPAN mouse show that it has difficulty making energy in a specific part of the brain responsible for balance and movement, the cerebellum. We have discovered that part of the machinery required to make energy is put together incorrectly in the mitochondria of the cerebellum. Understanding how this machinery has gone wrong helps tremendously in developing ways to fight the disease. We have also discovered that the MEPAN mouse has an altered stimulation of the immune system in the brain. Therapeutics aimed at treating the immune system and strategies using stem cells and mitochondrial transfer as therapies are planned in phase II of this work.
The UMDF meeting, organized by CMEM’s Dr. Douglas Wallace, and Dr. Murdock, also included focus areas on mitochondria and the immune system, mitochondria and viruses, and mitochondrial transfer. Several scientists presented the results of their latest research on how Mecr functions in the mitochondria. Families, scientists, genetic counselors, and physicians gathered after the session for a more extensive interaction about MEPAN. This meeting was the first of many and we hope that these interactions will foster a better understanding of MEPAN and the development of therapeutics, in addition to spreading awareness about MEPAN among the mitochondrial disease community.
$8,000 in Emerging Researcher Scholarships
June 2026:
Provided scholarships to support registration and travel for five emerging researchers attending the 2026 Mitochondrial Medicine Conference in Orlando, Florida.
The conference brought together more than 600 attendees from 36 states and 14 countries, giving researchers the opportunity to learn about the latest advances in mitochondrial medicine, connect with leaders in the field, and engage directly with patients and families.
We’re proud to invest in the next generation of mitochondrial disease researchers and look forward to seeing how their work advances our understanding of mitochondrial disease, expands treatment options, and brings us closer to a cure.
$175,000 toward Accelerator Research:
June 2024:
Daniel Lagos, PhD
University of Cambridge
Project Title: Unveiling the Role of Secreted Mitochondria in Extracellular Vesicles: Implications for Primary Mitochondrial Disease
June 2023:
Jonathan Deitz, PhD
Rutgers University
Accelerator Project: The Role of Metaxins in Mitochondrial Health and Homeostasis
June 2020:
Kinsley Bell
Stanford University
Stanford, CA
Accelerator Project: Investigating intrinsic and extrinsic factors influencing mitochondrial heteroplasmy
in mt-tRNA mutation-linked disease.
June 2019:
Rachel Guerra
Morgridge Institute for Research
Madison, WI
Accelerator Project: Structural and Functional Characterization of COQ9 in Facilitating Coenzyme Q Biosynthesis and Complex Q Formation
Zachary Wilson
University of Utah
Salt Lake City, UT
Accelerator Project: Manipulating Mitochondrial Metabolism Via The Mitochondrial Derived Compartment Pathway