JONAHS JUST BEGUN-FOUNDATION TO CURE SANFILIPPO IN wrote -
Jonah’s Just Begun–Foundation to Cure Sanfilippo, Inc. raises funds and distributes them to academic researchers focused on Sanfilippo Syndrome Type C. The foundation was formed after Jonah Weishaar, son of Jill Wood and Jeremy Weishaar, was diagnosed with this insidious disease.
The foundation has two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo Type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.
Just one year after Jonah’s diagnosis a group of like-minded familes, scientists and clinicians met in NYC. Together they identified the three most promising approaches to a treatment. The parents went home filled with hope and began their grassroots fundraising efforts. The scientists went back to their labs, inspired by the parents.
Today the most advanced of those approaches is in Dr. Bigger's lab at Manchester University Institute of Human Development in the UK. Unlike MPSIIIA, B or D, the missing enzyme in MPSIIIC is not secreted and as such requires a different approach. Dr. Bigger and his team are developing a gene therapy that delivers the missing enzyme directly into affected cells in the brain to maximize delivery and gene expression. The aim is to prove preclinical efficacy in animal models then move to phase I/II clincal trials.
Every glass of Purple Lemonade will bring us one step closer to saving Jonah and his friends. Thank you.