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3-D structure of the MECR protein
Image taken from Alphafold Protein Structure Database: https://alphafold.ebi.ac.uk/entry/Q9BV79
Precision Medicine
We are supporting research at the University of Florida to explore precision medicine that may address the underlying genetic cause of MEPAN Syndrome.
This is a complex and expensive process, but it may hold the most promise since it aims to correct the underlying MECR gene dysfunction associated with MEPAN by delivering working copies of MECR to tissues that are most affected, such as the brain and retina.
There are already FDA-approved AAV gene therapies for rare diseases such as Spinal Muscular Atrophy (SMA) and Leber's Hereditary Optic Neuropathy (LHON), with hundreds of other AAV therapies in clinical trials.
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