Cure CLCN4 Funded Projects

Below is a list of research initiatives that we have proudly supported. These projects are at the core of our mission, which is to establish a collaborative effort with dedicated researchers and clinicians, to unravel the biology of CLCN4-related condition and improve the quality of life of those living with it.

Together, we are driving progress step by step

Cure clcn4 pilot grant program 2023 - awardees announced in MAY 2024

Applications for the 2023 Cure CLCN4 Pilot Grant Program are open (deadline 15th December 2023)! The grant will provide a total of £150,000 towards 2-3 research projects focused on CLCN4-related condition (£50,000-£75,000/each). Details of the awarded projects will be announced here in early May. For further details of the grant please click here

[2023 – present] - Generation of anti-CIC-4 antibody for use in basic research

Rationale: Antibodies are essential tools in basic research, enabling the specific detection of proteins of interest. This detection capability is essential for understanding the expression levels of proteins, their modifications, and their localization within cells or tissues. By using antibodies, researchers can map where and when a protein is expressed, observe how its expression changes under different conditions, and gain insights into its role in various cellular processes. There are currently no independently validated, widely available antibodies for the detection of CIC-4, the protein encoded by the CLCN4 gene, presenting a barrier for basic research.

Aim: The aim of this project is to develop a set of working antibodies for the specific detection of the CIC-4 protein. Projects for the generation of a polyclonal and monoclonal antibody are ongoing (further details coming soon!).

Outcome (in progress)

[2021 – 2023] - Project for the Generation of Clcn4-rat models (£50,000)

Rationale: Research efforts on CLCN4-related neurodevelopmental condition (CLCN4-NDC) have been hindered by the lack of an appropriate animal model. Previously generated Clcn4 knockout (KO) mouse lines did not display an overt phenotype (developed normally, no anatomical changes in the brain, nor obvious behavioural abnormalities) [1,2,3]. This may be because the mouse Clcn4 gene is autosomal, rather than X-linked. With the aim of overcoming this hurdle, and given that the Clcn4 gene is on the X chromosome in rats, meaning the rat Clcn4 gene itself and its environment in the genome are better conserved, Cure CLCN4 aimed to generate a rat model/s of CLCN4-NDC.

Aim: The aim of this project was to generate three Clcn4-rat models including: i) a Clcn4 knockout rat; ii) a Clcn4 conditional knockout rat, and iii) a Clcn4 knock-in (KI) line, harbouring the rat equivalent of the p.(Ala555Val) CLCN4 variant, the most common recurrent variant with a strong gain-of-function phenotype in the Xenopus model.

Outcome: With funding provided by Cure CLCN4 and executed by the IGBMC (Institut de génétique et de biologie moléculaire et cellulaire, France) this project has been successfully completed and all three rat models are available on the INFRAFRONTIER repository. For further details and how to order please email us at info@cureclcn4.org

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