Sylvie Fournel-Gigleux, PhD

Sylvie Fournel-Gigleux, PhD

Geneticist (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 has been awarded the title of Honorary Professor at the University of Dundee. She is co-heading the MolCelTEG Team (Molecular, Cellular, Therapeutic Engineering & Glycosyltransferases) at the Research Institute IMoPA at Biopôle, Nancy (France) and is leading an International Associated Laboratory (IAL SFGEN) between CNRS-Lorraine University and the University of Dundee. She is a member of AVIESAN (Alliance Nationale pour les Sciences de la Vie et de la Santé) expert committee. She published over 100 publications, presented about 50 lectures in national and international meetings, and has directed or codirected 17 PhD thesis. 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 three 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 patients conditions. Sylvie Fournel-Gigleux is actively involved in relations with EDS patients associations (AMSEDgenetique, AFSED, AFM) and affiliated to the Orphanet network.