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 with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase-like 5 (CDKL5). CDKL5 has been implicated in neuronal synapse maturation, yet its postdevelopmental necessity and the reversibility of CDD-associated impairments…

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 young adult mice October 15, 2021   PHILADELPHIA— A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new…

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 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…

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 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…

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 me to post and send on, so in the spirit sharing it is below. Having a child diagnosed with CDKL5 is not something any of us has taken likely.  We…

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 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

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…