Content for Families, Carers and Professionals

CDKL5 Champions

CDKL5 CHAMPION HI RESWe have been fortunate over the last couple of years to work with some scientists, researchers and others.  They have provided valued input outside of our Scientific Advisory Group (SAG). These individuals have allowed us to call upon their skills and advice for what appears like any time day or night (all thanks to email) and we value them immensely.  CDKL5 UK are always looking for CDKL5 Champions, professionals in the world of science, research, medicine or in the commercial sector who are willing to learn about the CDKL5 disorder in order to educate in the UK and around the world in order to provide better research and clinical outcomes for those affected by the CDKL5 disorder. If you would like to know more about the CDKL5 disorder then please contact us at to join the list and become a CDKL5 Champion, or sign-up for updates and more information.

Professor Angus Clarke, Professor of Medical Genetics at Cardiff University School of Medicine has been instrumental in assisting CDKL5 UK since its inception. Professor Clarke runs a Rett Clinic at the University and has met a number of the children with CDKL5 in the UK. More recently he has been involved in a research project which is being conducted by his colleague David Millar at the University.  Professor Clarke also contributed to and reviewed our Guide to CDKL5 Disorder to ensure it was clinically sound and representative of the disorder. 

Dr Stuart CobbHead of the Neurophysiology lab at The University of Glasgow has been providing advice to CDKL5 UK for the last year in respect of gene therapy.  He was sponsored to attend the 2nd International CDKL5 Research Conference in Bologna by CDKL5 UK where he spoke about ongoing Rett Syndrome Gene therapy programme.

Dr Elisabetta Ciani is an Associate Professor at the University of Bologna. CDKL5 UK have been working with Dr Ciani for the last 2 years.  CDKL5 UK's first grant was made to the University of Bologna to support her work in Protein Replacement Therapy, this project is still ongoing but is now privately financed. 

Dr Alysson Muotri is an Assistant Professor at University of California San Diego. Dr. Muotri’s research focuses on human brain development and evolution, exploring mobile elements as generators of neuronal diversity. His lab is also interested in modeling neurological diseases, such as Autism Spectrum Disorders, using human induced pluripotent stem cells.  Dr Muotri has been working on CDKL5 iPSc for the last couple of years.  More recently his work has involved testing compounds on these cell lines to see whether the neuron's can be rescued. Dr Muotri has this to say “I am intrigued by how mutations in the CDKL5 gene can impact the brain in such dramatic manner. The study of human neurons in the lab has opened new avenues to test novel drugs to reverte problems caused by malfunctioning Cdkl5. The plasticity of these neurons is incredible. I am excited with the perspective of a cure and hope for the science to show us the way."

George Botley is our web designer and IT consultant. We are extremely thankful for his tenacity and professionalism in enabling us to move our website forward with the help of the National Lottery grant. This is what he had to say about being involved with CDKL5 UK. "I was approached by Carol-Anne in 2012 to support in completing the charity's first website and since then have been involved in launching CDKL5 Europe and the planning and implementation of the new website, Cure CDKL5. Over the past three years I have not only learnt of the CDKL5 gene disorder but also how it impacts people and the work the charity has achieved in such a short amount of time is a testament to the dedication and hard-work of a community who are striving to improve the lives of their loved ones. To this day, I continue to support CDKL5 UK in its mission to spread awareness and the new website is a small step to developing effective treatment, and, fingers crossed, a cure."