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Collaborative Reseach 

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Exploring proof of concept studies at the University of Florida in a mouse model for a potential gene therapy for MEPAN


Experiments at the National Institute of Health to model MEPAN gene mutations in worms to learn more about its impact on neuronal function in humans


A research proposal from the Burkart Lab at the University of California San Diego to study protein-protein interactions in MEPAN to discover its pathology and develop possible treatments

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Experiments in fruit flies at the University of Utah that seek to uncover the underlying pathology of MEPAN

Additional Efforts

Building a Collaborative Network

Creating a broader research network to study disorders in and around mitochondrial fatty acid metabolism is an important part of finding treatments and therapies. More concerted research in mtFAS could uncover treatments that may stretch across a number of disease silos in addition to MEPAN - including some acidurias, pyruvate dehydrogenase deficiencies, Leigh’s disease, and NBIA disorders.


We attend and speak at industry events to advocate for more rare disease research and equitable access to genetic testing. The aims are to increase the clinical use of genetic testing for rare diseases and raise awareness for MEPAN Syndrome. 

Bill Gahl, Gail Jarvik, John Phillips and Danny Miller