PROJECT: JTC2021 - Neurodevelopmental Disorders: RestoreLeak

Aim: The overall goal of the project is (i) to decipher molecular mechanisms involved in the etiology of two ultra-rare and severe neurodevelopmental human disorders linked to mutations in the NALCN gene, and (ii) to develop innovative strategies to treat patients. This project involves the combination of specific and complimentary know-hows and expertises from different laboratories in addition to the use of original cell and animal models as well as the association with clinicians and an access to patients. Work plan: 3 work packages (WP) aiming at deciphering NALCN localization & regulation properties to provide novel insights about its physiological roles (WP1), deciphering the pathophysiological defects from both patients and animal models (WP2), and to develop both pharmacological and gene therapy approaches to treat patients (WP3). Exploitation of Results: Results will be disseminated through publications in high-impact factor scientific journals with open access as well as to a more general audience through the Libellas Foundation, a nonprofit patient advocacy organization dedicated to improving the life of children affected by NALCN ion channel-related diseases. Every procedures and specific data generated by this project will be estimated along with the offices for intellectual property of each partner institution in order to estimate whether patent(s) could be filled or partnership with companies could be established before publications in academic journals.