It’s been a while since my last blog on the CDKL5 UK site, so I’m going to try and make up for that with two blogs in December and one in January. This first blog will be to tell you where we got to with the work that was funded by CDKL5 UK, now that the one-year grant has finished. The two forthcoming blogs will be about the CDKL5 Forum meeting in Boston, which has just taken place at the end of November, and about a new paper which I have coming out, which is a study of variants in the CDKL5 gene and what that can tell scientists and clinicians.
Firstly, the work I’ve been doing. Our group, led by Stuart Cobb, has had a long-standing interest in genetic therapies, and we wanted to start the development of a genetic therapy for CDKL5 deficiency. We know some groups are taking forward a gene ‘replacement’ approach (delivering a working copy of the CDKL5 gene to deficient cells), so we started to develop a slightly different strategy using a technique called ‘trans-splicing’. Rather than delivering a complete copy of the CDKL5 gene to cells, we aim to deliver only the part of the gene that is affected by a mutation. To do this we need to encourage the cell to incorporate our gene fragment, and we spent our one-year project trying to optimise ways of doing this. We made some progress and are now looking at ways to develop this further with new funding. Developing treatments like this always takes time, so we’re extremely grateful to CDKL5 UK for giving us the funding to start work on this as a potential future therapy for CDKL5 patients.
Although this one-year grant has come to an end, I’ll be keeping my close links with CDKL5 UK, and continuing to work on CDKL5, especially now that our group is part of a new centre at the University of Edinburgh, the Centre for Discovery Brain Sciences. Moving a lab is always quite a big deal, and we have had a mountain of boxes to deal with in December! Logistics aside, this is an exciting move for our group, and it really makes Edinburgh an important hub for CDKL5 research in the UK.
I have a new email address, which is firstname.lastname@example.org. As ever, I’d be glad to hear your thoughts and hopefully help answer any questions you might have, so please get in touch. You can also reach out on Twitter @ralphdhector.