Emeritus Director of Research at INSERM. expert in residence for rare diseases at the Brain and Spine Institute in Paris, Editor-in-Chief of the Orphanet Journal of Rare Diseases
Dr Ségolène Aymé is Emeritus Director of Research at the French Institute of Health and Medical Research (INSERM). She is the Editor-in-Chief of the Orphanet Journal of Rare Diseases (www.ojrd.com) and now works as expert in residence for rare diseases, at the Brain and Spine Institute in Paris (http://icm-institute.org/en/). She is Officer of the Legion d’Honneur.
Ségolène started her career in 1972 as Assistant Professor in Medical Genetics at the children’s hospital In Marseilles, until she joined the INSERM as a researcher in 1978.
She dedicated her professional life to the development of tools and innovative practices to improve the diagnosis and management of rare diseases, the access to expert services and the development of appropriate policies at national and international level. She worked on the public health dimension of innovative practicesin genetics. She was the first president of the International Federation of Human Genetics Societies in 1996. She chaired from 1998 until 2007 the Public and Professional Policy Committeee of the European Society of Human Genetics.
She was the founder of Orphanet in 1997 and Executive Manager up to 2011. She chaired the EC Task Force on Rare Diseases (2004–2009), and the EU Committeee of Experts on rare Diseases (2010-2013). She chaired the WHO Topic Advisory Group for Rare Diseases (2007-2016) and managed the scientific secretariat of International Rare Disease Research Consortium (2012-1015). She received the Education Award of the European Society of Human Genetics in 2017.