Centre Hospitalier Universitaire Montperllier (CHUM)
David Geneviève is one of the world’s experts on Kabuki syndrome.
He has participated in the description of many clinical (1-3), imaging (4) or neuropsychological (5) elements that can become clinical end points, useful in case a treatment for Kabuki syndrome is found. Among other interests, he participated in the description of epigenetic signatures of several chromatin pathologies (6) in particular concerning pathologies linked to CDK13 (7) or YY1 (8).
In order to identify therapies for people with Kabuki syndrome, David Genevieve and his collaborators (including Farida Djouad-Inserm U1183, IRMB and Jean Christophe Andrau IGMM) have developed a zebrafish model named ZEPIKAB and are using several adapting human clinical endpoints data into therapeutic targets for zebrafish. Once the efficacy of the epidrogues has been demonstrated and after confirmation in ma mouse model for Kabuki syndrome, translation to humans will be considered. Learn more about zepikab https://anr.fr/Project-ANR-21-CE17-0013
Description of partner organization
The Montpellier University Hospital (CHUM) is a site recognised as an expert in rare diseases by the General Directorate for Health Care Organisation and therefore by the French State since 2014. It is home to 7 centres of reference (including an expert centre of reference for chromatin pathologies run by Prof. David GENEVIEVE) and 65 centres of competence for rare diseases. Prof. David GENEVIEVE is also in charge of the disease expertise platform. The Montpellier University Hospital is also the HCP for several ERNs, including the ERN ITHACA, which is an expert in neurodevelopmental pathologies, including chromatin disorders. This means that patients can receive comprehensive care, from precision diagnosis to personalised care. In addition to care, the Montpellier University Hospital and the University of Montpellier are involved in research on rare diseases.
The IRMB is a research structure of translational excellence between the Montpellier University Hospital and Inserm. The zebrafish studies are carried out at the IRMB in partnership with Farida Djouad.
Institution description (Montpellier university hospital)
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