Photo by Daniil Kuzelev on Unsplash

The CHAnging Rare disorders of LysInE (CHARLIE) metabolism project is focused on develpoming new treatments for patients with pyridoxine-dependent epilepsy and glutaric aciduria type I. Novel therapies will be developed and validated using neuronal stem cells, zebrafish, and mouse models.

This project is led by Professor Clara van Karnebeek and includes collaborations between clinician-scientists from five countries. A major focus of the CHARLIE Project is engaging with patients and families throughout the study. We are actively recruiting US-based families to join this study. Please contact Dr. Coughlin if you are interested in joining the study for more information.

Curtis R. Coughlin II
Curtis R. Coughlin II
Associate Professor

My research interests include inborn errors of metabolism that impact neurologic function with a focus on pyridoxine-dependent epilepsy, glutaric aciduria I, and vitamin B6 metabolism.