Ségolène Aymé, MD, PhD, born in Paris (1946), is married with 2 children.
Mrs Aymé is currently Director of Research Emeritus at the INSERM; Coordinator of the Joint Action “Orphanet Europe”; Member of the Joint Action “EUCERD”; Member of the Commission Expert Group on Rare Diseases since 2014; Coordinator of the International Rare Disease Research Consortium (IRDiRC) since 2012; Member of the ICD revision steering group for WHO since 2007; Chair WHO Topical Advisory Group for Rare Diseases since 2007; Member of the follow-up committee of the national plan for rare diseases since 2005; Member of the scientific advisory board of the Agence Nationale de la Biomédecine since 2008 for genetic testing; Member of the Scientific Advisory Board of RD Connect since 2013; Member of the Scientific Advisory Board of Eurenomics since 2013 and Member of the Scientific Advisory Board of Elixir since 2012.
Current editorial activity:
– Editor-in-chief of the Orphanet Journal of Rare Diseases since 2006
– Editor-in-chief of OrphaNews Europe since 2005
– Section editor of the European Journal of Human Genetics since 1995
– Communicating editor of Human Mutation since 2010
– Senior Consulting Editor of Journal of Rare Cardiovascular Diseases since 2012
Awards:
– Chevalier de l’Ordre National du Mérite (1992)
– Chevalier dans l’Ordre National de la Légion d’Honneur (2002)
– 2013 European Leadership Award for Rare and Orphan Advocacy and Research from the World Orphan Drugs Congress
– 2013 EURORDIS Scientific Award for “overall scientific excellence, promotion of European and International collaboration, and support of the patient community via Orphanet, the world’s leading reference portal for expert validated rare disease and orphan drug information”
See here her Presentations at eHealth Forum
The landscape of patient registries in Europe and Challenges at Country level
