Matt Simon’s Post

I’m proud to share a tremendous achievement that I was fortunate to be a party to. Through the dedication of teams across The Jackson Laboratory Harvard University, Children's Hospital of Philadelphia, we have demonstrated proof-of-concept for the correction of Dravet syndrome using adenine base editing. Led by Dr. David Liu, Dr. Ethan Goldberg, and Dr. Cat Lutz, their teams collaborated famously to pull off this achievement. Dravet syndrome impacts ~1: 14,000 children in the US alone and is characterized as a severe childhood epilepsy that is often refractive to epileptic treatments. Patients with this rare disease could expect to bare the symptoms and the complications brought on by them for life. However, this work demonstrates that it may be possible to directly target the offending genetic causes of Dravet syndrome and provide a long term solution in the form of a genetic medicine. I can’t thank enough the Herculean efforts of Andrew Nelson and Sophie Hill (who’s experimental contributions not only was instrumental to this work, but also her stellar photo made the cover). I also want to shout out Dravet Syndrome Foundation Spain, for it was their Scn1a R613X mouse that was instrumental in demonstrating this therapeutic approach can succeed. https://lnkd.in/gTimqUyT