Cure CLCN4
Research - London, England, United Kingdom
Cure CLCN4 Employees
Cure CLCN4 Details
Cure CLCN4 is a medical research registered charity, founded by Peter and Gina Trill, the parents of a little girl with a CLCN4-related condition. The aim of the charity is to support scientific development, thus expanding the knowledge base about the pathology of CLCN4, with the ultimate goal of developing therapeutic strategies for this rare but devastating condition. CLCN4 is an X chromosomal gene that is responsible for the production of a chloride channel, ClC-4, critical for early brain development. Abnormalities in this gene cause a neurodevelopmental disorder that can involve treatment-refractive epilepsy, movement disorder, cognitive delay and autism. CLCN4 is a life-changing condition with devastating impact on the lives of the children affected, as well as their loved ones. Currently, much of the science behind the condition remains unknown, and the basic requirements for research into treatments are absent. Thus, the aim of Cure CLCN4 is to:1) Develop research tools that will help accelerate our understanding of CLCN4 and the identification of effective treatments. These will include, but are not limited to:a. the maintenance of a comprehensive and user-friendly patient registry to collate clinical data, for the purpose of facilitating translational research as well as a natural history study,b. the setting up of robust neuronal cell lines, making these available to interested research groupsc. the setting up of a robust animal modeld. the identification of reliable anti-CLCN4 antibodies to aid in scientific research2) Raise awareness of CLCN4 related condition among the scientific and wider community.For further information please visit our website: https://cureclcn4.org/We have also set up a CLCN4 Families Facebook page (for families with loved ones affected by this condition): https://www.facebook.com/groups/272975780022928/?ref=share
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