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MEPAN Research

Finding treatments for rare conditions like MEPAN is incredibly time-consuming and expensive, so our initial focus is on supporting drug repurposing research. These projects examine FDA-approved drugs to identify existing medicines that can address MEPAN symptoms; it is potentially the fastest, most cost-effective path to finding a treatment.

The University of San Francisco's Department of Medical Genetics currently has a MEPAN repurposing project underway, and we are raising $30,000 to support this important effort. Please donate to help us reach our goal!

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Project Summary:

  • Uses yeast to model MEPAN/MECR genetic mutations

  • Screens 1,000s of existing drugs and compounds

  • Goal is clinical trial for Carson and Chase

Other Research 

We are actively engaged with researchers and scientists in government, academia and biotech to drive interest in MEPAN research and encourage projects that can identify the underlying  cause of the condition, develop possible treatments, and explore the metabolic connections between MEPAN and related disorders.

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  • Ongoing experiments in modeling MEPAN in worms to learn more about its' impact on neuronal function in humans

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  • Experiments in fruit flies that seek to uncover the underlying pathology of MEPAN

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

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 could stretch across a number of disease silos besides MEPAN - acidurias, pyruvate dehydrogenase deficiencies, Leigh’s disease, and NBIA disorders.

Advocacy

We participate in and speak at industry events as time permits. Sharing our story helps us advocate for increasing the clinical use of genetic testing and precision medicine for rare diseases and raises awareness for MEPAN Syndrome. 

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