Introducing Emma Claydon, the new CDKL5 Research and Care Coordinator. I would like to introduce myself. My name is Emma Claydon and I am the new CDKL5 Research and Care Coordinator for the CDKL5 Centre for Excellence at the Bristol Royal Hospital for Children. You may have previously had contact with my predecessor, Helen Bowden,…
Loulou Foundation Announces Launch of Pre-Competitive Industry Collaboration for CDKL5 Deficiency Disorder Observational Study October 25, 2021 08:00 AM Eastern Daylight Time LONDON–(BUSINESS WIRE)–The Loulou Foundation, a private foundation dedicated to the development of therapeutics for the neurodevelopmental condition CDKL5 Deficiency Disorder (CDD), announced today that seven biopharmaceutical industry partners together with the Loulou Foundation have formed…
Researching the rare epilepsy CDKL5 – with Dr. Omar Mamad – FutureNeuro – RCSI – Ireland
Dear Families Living with CDKL5 Deficiency Disorder, While some of you may already know our company from previous presentations at scientific meetings, we are now pleased to provide your community with a more formal communication regarding Ultragenyx’s research on CDKL5 deficiency disorder (CDD). Ultragenyx is currently in the early, pre-clinical stage of development for UX055,…
We would like to share with you an excellent review of the research in CDKL5 of the last 12 months written by our Trustee & Dad of Ellie Martyn Newey – www.supporting-cdkl5.co.uk. You are able to find the summary of the research in 2020 of CDKL5 Martyn Newey by using the following link
#1 to #3: Gene therapy and X reactivation: Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder. Gao Y et al., Brain Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Benke TA and Kind PC, Brain First published proof of concept for AAV-mediated gene therapy…
CDKL5 Collaborative Network Newsletter – Autumn 2020 Please find the latest newsletter of the Centre of Excellence for CDKL5 Deficiency Disorder at Bristol Royal Hospital for Children. You can read the newsletter by using the button below. Newsletter
We are delighted to be able to share news about our Centres of Excellence. Royal Bristol Children’s Hospital has been announced as the first Centre in the UK. (More info to follow from CAP) It’s our aim to have a CDKL5 Nurse Specialist at each Centre. We believe this will offer the level of care and support our…
Improving our understanding of a rare neurological condition Update from Dr Ralph Hector I have a new paper out, published in Neurology Genetics, called “CDKL5 variants: Improving our understanding of a rare neurological condition.” This is a study of all the genetic variants we see in the CDKL5 gene, in both patients with CDKL5 deficiency…
Project Update – Dr Ralph Hector 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…