CV Science

Agnes BLOCH-ZUPAN Professor (PU) in Oral Biology, Université de Strasbourg; PH Consultant University Hospital Strasbourg, Reference center for rare oral and dental diseases

Course and current status

IGBMC (Institute of Genetics, Cell and Molecular Biology) CNRS-UdS UMR7104, Inserm U1258, Illkirch, France 

Scientific summary

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, e-tools using IA as virtual expert to support diagnosis of these rare diseases, in vitro cellular validating tests for VUS, 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.