Category Archives: news


MEPAN Page Added to Website

Approximately two years ago, our team worked with researchers in Israel and several other countries to discover a new disease-causing gene called MECR. Mutations in this gene cause a condition that we named MEPAN, which stands for “mitochondrial enoyl CoA reductase protein-associated neurodegeneration.” Although MEPAN does not cause brain iron accumulation, both the symptoms and […]

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Decades-long Search for Diagnosis Finally Reaches Conclusion

When Mike Cohn was 15 years old, his unique medical history was described in the well-known medical journal, Neurology. Mike had seizures as a baby, and he reached his motor milestones later than other kids his age. When he turned 8, he felt like his world was turned upside down. Walking became increasingly difficult due […]

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