Database CDKL5 Centre of Excellence Bristol
Dear families, You may already be aware from the last webinar, or from the most recent newsletter, that the CDKL5 Centre of Excellence would like…
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CDKL5 UK News
New video technology service via vCreate!
New video technology service via vCreate! CDKL5 UK is delighted to share with you that due to a grant from Orion Pharma, we have been…
New CDKL5 Research and Care Coordinator
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…
Loulou Foundation Announces Launch of Pre-Competitive Industry Collaboration for CDKL5 Deficiency Disorder Observational Study
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…
Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits
Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome associated…
Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood
Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood Researchers find that restoring CDKL5 gene activity reverses many disease signs in…
Researching the rare epilepsy CDKL5 – with Dr. Omar Mamad – FutureNeuro – RCSI – Ireland
Researching the rare epilepsy CDKL5 – with Dr. Omar Mamad – FutureNeuro – RCSI – Ireland
Ultragenyx’s research on CDKL5 deficiency disorder – May 2021
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…
Summary of CDKL5 research from 2020.
We would like to share with you an excellent review of the research in CDKL5 of the last 12 months written by our Trustee &…
Twenty “must-read” publications from 2020
#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…
Marinus Launches Expanded Access Program for Ganaxolone Treatment in CDKL5 Deficiency Disorder
Marinus Launches Expanded Access Program for Ganaxolone Treatment in CDKL5 Deficiency Disorder RADNOR, Pa.–(BUSINESS WIRE)– Marinus Pharmaceuticals, Inc. (Nasdaq: MRNS), a pharmaceutical company dedicated to…
CDKL5 Collaborative Network Newsletter – Autumn 2020
CDKL5 Collaborative Network Newsletter – Autumn 2020 Please find the latest newsletter of the Centre of Excellence for CDKL5 Deficiency Disorder at Bristol Royal Hospital…
Centres of Excellence
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…
A-Z "A Journey of Emotions as a CDKL5 Family"
I recently had the pleasure in presenting this to families, clinicians and pharmaceutical companies at the 4th International CDKL5 Family Conference in Denver. Many people ask…
CDKL5 variants
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…
Project Update – Dr Ralph Hector
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…
The 4th International CDKL5 Congress 2nd – 3rd June 2017 – Rome
The 4th International CDKL5 Congress was held at the A. Roma Lifestyle Hotel in Rome on the 2nd and 3rd of June 2017. As in the past, the…
Rare Disease Day – Glasgow University
The last day of February each year is International Rare Disease Day, a day to raise awareness with policy makers and the public of rare…
Lab Visit, Dr Ralph Hector – December 2016
In December our lab in Glasgow played host to a visit from some intrepid members of the CDKL5 UK team looking to brave a…
CDKL5 Forum – 10-11 October, 2016
This week myself, Carol-Anne and Adrian attended the CDKL5 Forum in London, organised by the LouLou foundation. The meeting was a bit different in format…
New CDKL5 UK funded project – Dr Ralph Hector
Dr Hector writes: I am delighted to be writing my first blog for CDKL5 UK. Hopefully this will be the first of many over the…
3rd European CDKL5 Conference, 2 – 3 June 2016, Birmingham
The 3rd European CDKL5 Research Conference was held at The St Johns Hotel in Solihull, Birmingham on the 2ndand 3rd of June 2016. The conference consisted of…
Rett Disorder UK Working Group
First Meeting of the Rett Disorders UK Working Group! On Thursday 10th March 2016, the Rett Disorders Alliance brought together the first meeting of a…
CDKL5 Collaboration
CDKL5 UK Chairperson, Carol-Anne Partridge and trustees, Sarah Skillicorn and Shelley Ashton met with Paula Connolly, trustee of CDKL5 Ireland this weekend. The aim of…
My CDKL5 Journey
In 2014 CDKL5 UK were awarded a National Lottery grant from the “Awards for All” programme. The project title was “CDKL5 Education” the grant was to cover…
CDKL5 Deficiency Disorder – A review of evidence of CDKL5 function
This is an excellent review which has been updated from its previous version to reflect the up-to-date research that has been conducted all over the…
Rett Disorders Alliance
Some good news to share which we will hope will change the face of Rett and Rett-like disorders within the health and social care sectors…
The 2nd International meeting of the CDKL5 Associations – Bologna, Italy
The 2nd International meeting of the CDKL5 Associations was held from April 25th – 27th in Bologna, in the historic lecture theatre of the medical school. The…