Agnès BLOCH-ZUPAN

ResearcherID: N-7822-2016 - http://orcid.org/0000-0002-6511-2615 My clinical, teaching and research activities are focused on orodental development and anomalies. These anomalies exist within rare diseases clinical synopsis and are considered as diagnostic markers or even severity predictors, treatment outcome signs in some genetic diseases. They are classified as anomalies of tooth number, shape, size, structure, root formation, eruption and are linked to specific developmental and genetic issues. They exist in isolation or associated to other symptoms in syndromes. They are studied combining complementary and convergent clinical and preclinical approaches using developmental biology tools as the analysis of mutant mouse models and bioinformatics. I created, developed and am using original research tools (devoted clinical patient database D4/phenodent, biological sample collection, NGS orodental anomalies panel GenoDENT, mouse transcriptomic atlas, standard operating procedures for mouse oral cavity phenotyping) attempting to improve knowledge and understanding of the aetiopathology responsible for these orodental anomalies.