October 1, 2026 We recently crossed an important fundraising milestone, and I want to begin by thanking all of the families and supporters who have helped make this possible. Every contribution—large or small—allows us to keep moving toward our shared goal: developing effective treatments for children and adults affected by IQSEC2-related disorder. One of our…
Read article November 5, 2025 Dear IQSEC2 family Update on new developments in the first clinical trial for IQSEC2 in boys with knockoutmutations and a second trial we are now planning for girls and also in the remainingboys with class 2 mutations (not knockout). Clinical trial in boys with knockout mutations.Pleased to report on a very productive…
Read article The research projects selected for funding were selected based on their ability to develop new therapeutics for treating our children with IQSEC2 mutations.
Read article The research projects selected for funding were selected based on their ability to develop new therapeutics for treating our children with IQSEC2 mutations.
Read article New publication providing logic for molecular engineering of IQSEC2 minigene
Read article In the previous blog in October I briefly described possible approaches for IQSEC2 mediated disease. In this update, I wish to provide an exciting update on research on one of these approaches-gene therapy using adeno-associated virus (AAV).
Read article
