Dr. Sibon’s group in the Netherlands has published a paper that reveals important insights into the biochemical changes in PKAN and related disorders (CoPAN, MePAN and PDH-E2 deficiency). It reports work done largely by Roald Lambrechts (who just got his PhD yesterday!) and others in the Sibon lab. Dr. Sibon has also written a FAQs […]

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 […]

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 […]