Geneticist (France)
Sylvie Fournel-Gigleux, PhD
Sylvie Fournel-Gigleux, PharmD, PhD, Research Director INSERM
Biochemist/Pharmacologist
UMR 7365 CNRS-Université de Lorraine, MolCelTEG Team
54500 Vandœuvre-les-Nancy, France
Sylvie Fournel-Gigleux is Research Director at the National French Institute for Medical Research (DR INSERM) since 2000. She is a double graduate of the University of Lorraine (France), Doctor in Pharmacy (PharmD) and has a PhD in Molecular Pharmacology. She is co-heading the MolCelTEG Team (Molecular, Cellular, Therapeutic Engineering & Glycosyltransferases) at the Research Institute IMoPA at Biopôle, Nancy (France).
Her research activities are centered on the investigation of connective tissues disorders, with special focus on rare genetic diseases. Her team is deeply involved in the study of rare forms of Ehlers-Danlos syndrome (EDS). The team recently established the molecular basis of the defect in glycosaminoglycan synthesis in EDS variants due to mutations of b4GalT7, and b3GalT6, two glycosyltransferase enzymes implicated in the initial steps of key connective tissue components. The team develops a combination of approaches (biochemistry, molecular biology, glycobiology) with 3 major aims: 1. To establish the molecular basis for EDS forms due to mutations of glycosaminoglycan biosynthetic enzymes; 2. To provide new diagnostic tools for the forms of rare genetic diseases for which the causative genes are not yet identified; 3. To develop therapeutics to correct glycosaminoglycan and matrix components alterations to improve EDS patient’s condition.
She has numerous national responsabilities, member of AVIESAN (Alliance Nationale pour les Sciences de la Vie et de la Santé) and CoNRS section 20 expert comittees… She published over 110 publications (h index 34), presented more than 60 lectures in national and international meetings, and has directed or codirected 17 PhD thesis, several of them concerning the molecular basis of EDS syndromes. She is recipient of national and international Grants, among them a grant in 2016 from “Fondation Maladies Rares”.
Sylvie Fournel-Gigleux is actively involved in relations and support of EDS patient’s associations (UNSED) and her team is affiliated to the Orphanet network.
