Ségolène Aymé is Emeritus Director of Research at the French Institute of Health and Medical Research (INSERM). She was the founder of Orphanet in 1997 and its Executive Manager up to 2011. She chaired the EU Committeee of Experts on rare Diseases (EUCERD 2010-2013) and is now a member of the Commission Expert Group on Rare diseases. She also chairs the WHO Topic Advisory Group for Rare Diseases and serves as Editor-in-Chief of the Orphanet Journal of Rare Diseases (www.ojrd.com). She is the project leader of “Support IRDiRC”, which provides the services of a scientific secretariat to the International Rare Diseases Research Consortium (www.irdirc.org).