Resources – for professionals
At Cure CLCN4 we are working to provide the scientific community with the necessary tools to further research on CLCN4-related neurodevelopmental disorder. Below is a list of resources including upcoming research tools, informational resources and recordings of past scientific conferences.
Rat models (ORDER NOW!)
Two Clcn4-rat models produced by PHENOMIN-ICS and funded by Cure CLCN4, are now available for research on the EMMA repository of InfrafrontierEU. Click here to order now!
Available rat models:
- Clcn4 knockout.
- Clcn4 A549V point mutation (equivalent to human A555V PM).
We are very grateful to the Simons Searchlight foundation for the generation of induced pluripotent stem cells (iPSCs) from blood samples provided by CLCN4-affected families who have registered in the Simons Searchlight registry. A list of the upcoming cell lines will be available soon here.
GeneReviews for CLCN4-Related Neurodevelopmental Disorder
This GeneReview publication contains up to date information about CLCN4-related neurodevelopmental disorder including diagnosis, clinical characteristics, management and resources.
Inaugural CureCLCN4 Scientific Conference
Our first scientific conference took place last May 2022, hosting a range of fantastic speakers and informative talks on CLCN4-related condition, rare disease, ion channels, neuroscience and drug discovery. Recordings of the conference are available here.