Senior Research Associate
Gwenaëlle has 19 years experience in research laboratories working on human genetic diseases and has been involved in LSDBs since 1995. She has worked on Marfan syndrome and demonstrated the involvement of the TGFBR2 gene in the disease.
She is the curator of 4 LSDBs: UMD-FBN1, UMD-FBN2, UMD-TGFBR2 and UMD-TGFBR1. Leader of a research group on dystonia, she is also involved in the bioinformatics team. She has published 32 international papers, has 1 patent and is involved in 4 EU projects: European Network of Excellence (NoE FP6) TREAT-NMD (2007-2011, n°036825); European project (FP7) GEN2PHEN (2008-2012, n° 200754), European project (FP7) NMD-CHIP (2009-2011, n° 223026); European project (FP7) BIO-NMD (2009-2011, n° 20092441).