CDKL5 Ireland Family Awareness Day and Research Launch

CDKL5 Ireland Awareness Day

CDKL5 Ireland Awareness Day – Pictured at the International CDKL5 conference The Irish contingency with founders of LouLou Foundation 

CDKL5 Ireland Family Awareness Day and Research Launch

CDKL5 Ireland is a small charitable organization raising awareness with Irish families, public and medical professionals. It has been established by a couple of parents of CDKL5 children. In light of some new found research, CDKL5 Ireland has organised the first Irish CDKL5 Family Awareness Day alongside the launch of the research. This research is in partnership with CDKL5 Ireland and the Institute of Neuroscience.

CDKL5 Deficiency Disorder (CDD) is a rare brain disorder characterized by severe early-onset seizures in the first month of life, intellectual disability, motor and social impairment. Currently, no therapies exist for CDD and only symptomatic pharmacological treatments are available.

Jonna Malone, Secretary at CDKL5 Ireland told ilovelimerick how she got involved, “I first heard about this particular piece of CDKL5 research when I went to hear a lecture on it at Trinity College by one of the researchers, Professor Charlotte Kilstrup-Nielsen from University of Insubria in Italy. After the lecture, I expressed our willingness to help out should there be a need to provide samples of blood etc for their research.” Their research is focusing on the idea of Plasma microtubule proteins as potential biomarkers for CDKL5 Deficiency Disorder (CDD).

Jonna continued, “Couple of weeks later, I received some emails from Professor Massimiliano Bianchi, another researcher involved in a related study who works at the Institute of Neuroscience at Trinity College. He told me they had applied and received funding for their research from the LouLou Foundation which inclusively funds CDKL5 research. This was obviously great news. For the first time, we have CDKL5 specific research happening in Ireland.”

If their hypothesis on altered plasma alpha-tubulin PTMs in CDD is correct, the results may have an immediate impact on the development of clinical diagnostic biomarkers and open new avenues for future original research, possibly leading to the discovery of innovative disease-modifying therapies.

Jonna recently attended the 5th International CDKL5 conference at the Royal College of Surgeons in Edinburgh. Here families from all over the world had the opportunity to sit around the table together with researchers and pharmaceutical company representatives to discuss the way forward with CDKL5 related research and medical trials. 

Jonna said, “It was empowering to have the opportunity to tell the researchers and pharmaceuticals what we as families think is needed in order to help our children towards a better quality of life and new therapies and possibly a cure.” The agenda at the conference also included some practical workshops on intensive interaction, alternative augmentative communication and vision therapy.

The CDKL5 Ireland Family Awareness Day will take place on Saturday, July 13 at the Science Gallery at Trinity College from 1 pm to 4 pm. The event is open to anyone interested in hearing more about this rare disorder or the research.

For more information about CDKL5 Ireland visit

For more information about LouLou Foundation visit

For more stories about CDKL5 Ireland go here

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