Joint Funding with the International Rett Syndrome Foundation (IRSF)

For Immediate release

Wadsworth, OH  July, 29, 2013 — The International Foundation for CDKL5 Research is proud to announce co-funding of a grant with the International Rett Syndrome Foundation for a joint research project that is looking closely at the interaction between CDKL5 and MeCP2. It is our sincere honor to collaborate with IRSF again, as we recognize and appreciate our many common goals and interests, and in this case, the close molecular interaction between our two disorders. We believe collaborating on projects that are relevant to our respective organizations is a fundamental example of rare diseases showing strength, unity and commitment.

Dr. Janice Ascano, IRSF Grant and Research manager: “IRSF is pleased to announce the partnership with IFCR to jointly fund a basic research award to Dr. Charlotte Kilstrup-Nielsen, who has been working on the interactions between CDKL5 and MeCP2 proteins, and her project aims to explain how MeCP2 dysfunctions cause RTT conditions while understanding how CDKL5 functions in the brain. IRSF believes this is a collaboration that has worked in the past and is excited to have the opportunity to work with IFCR again to further research for both MeCP2 and CDKL5 related disorders.”

Dr. Charlotte Kilstrup-Nielsen from the University of Insubria in Italy has much experience studying CDKL5 and MeCP2, and this current project is aimed at characterizing a novel MeCP2 phospho-isoform that was previously mapped as an in vitro target of CDKL5. In particular, she is analyzing the upstream events regulating this phosphorylation, paying particular attention to the role of CDKL5 in regulating MeCP2 phosphorylation in vivo, and the downstream effects on MeCP2 functions.

While this 2 year project is currently in the early stage, Dr. Kilstrup-Nielsen has already discovered some novel and exciting findings about CDKL5, which she will be presenting at the 3rd European Rett Syndrome conference in Maastricht in October. We look forward to her achievements as she pushes CDKL5 and MeCP2 research forward.