I am delighted to be writing my first blog for CDKL5 UK. Hopefully this will be the first of many over the coming months and years. I started working on CDKL5 research last year and I am delighted to be continuing this work. Thanks to this new funding from CDKL5 UK, in the coming year I will be working on a new project aimed at developing an innovative genetic therapy for CDKL5 disorder. Genetic therapies are currently not well developed for CDKL5 disorder, and this funding offers a chance to start the development of treatments that could, in future, be used to treat the disorder at its source, the CDKL5 gene.
Our lab, headed by Dr Stuart Cobb at the University of Glasgow, have been involved in pioneering research aimed at overcoming many of the difficulties associated with treating neurodevelopmental disorders with a gene therapy approach. In this project, we aim to design a therapy that will ‘by-pass’ disease causing mutations and restore function of CDKL5 protein.
My recent work with CDKL5 disorder has involved a study to improve our understanding of the CDKL5 gene structure and its products, and is available to download here. This information gives us the background we need to design our therapeutic constructs in this new project, but it also provides an important update for the field, for other CDKL5 disorder researchers and molecular diagnostics.
I am happy to be contacted via email, firstname.lastname@example.org, for any CDKL5 disorder related questions and you can also follow me on twitter; @ralphdhector. I will be working closely with CDKL5 UK so be sure to follow developments as we have some great initiatives coming up which will continue to #bridgetheisolation.