Inaugural CureCLCN4 Scientific Meeting

External Event - 27th to 28th May 2022

Venue: The conference will be hosted in London (UK), at the Sainsbury Wellcome Centre (27th May) and the Francis Crick Institute (28th May). Further information about how to get to the venue and accommodation options will be published soon (*there will also be an option to attend online).


CLCN4-related condition is a rare X-linked genetic disorder that leads to intellectual disability and other problems such as epilepsy, behavioural disorders, movement disorders and microcephaly. CLCN4-condition is caused by mutations in the CLCN4 gene, which encodes the ClC-4 protein, a 2Cl-/H+ ion channel expressed in intracellular compartments in a wide variety of tissues, but prominently in the brain and skeletal muscle. The extent and severity of CLCN4-related condition, which has so far been reported in just under 100 individuals worldwide, is very variable, depending on the type of gene change, the gender of the affected individual, the pathophysiological impact of the genetic change and, as yet, incompletely understood factors. Overall, there is currently little understanding of the basic biology of CIC-4 and no appropriate therapeutic options.

This conference will bring together leading academic, clinical and industry speakers from the ion channel, rare disease, and therapeutic discovery fields. Through a series of short talks and panel discussions, we will review the current knowledge on the biology and clinical aspects of CLCN4 condition and establish the necessary steps towards the development of therapeutic options for CLCN4, all the way from the early stages of basic research on animal and cellular models to clinical research, drug discovery, and precision medicine.

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