Since the disease was only described in 2008, there has been minimal research into developing new cures. I have started working on the disease in my lab at Penn and with collaborators at the Children's Hospital of Philadelphia (CHOP), where Lucy and other kids with STXBP1 are treated. Working with Lucy's neurogenetics team at CHOP, we have also begun to motivate work in parallel at top neurodevelopment labs throughout the U.S. and Europe, in partnership with the STXBP1 Foundation. There are several therapeutic strategies that could work, but these require time and money to test!

To raise money for research, I will bike 72 miles during the Million Dollar Bike Ride on June 11th. When you donate to this cause, you will know exactly where your money is going - to the top labs around the world working directly on developing a cure for Lucy's condition. Every dollar goes directly to research, and I will work with the Orphan Disease Center to help make sure the money ends up in the hands of expert scientists and clinicians who have the best chance at developing a cure to help kids NOW, in Lucy's generation. They have already made real progress towards developing a new therapy and you can help us and others in our fight to cure this disease.