Dr Anne-Sophie Lapointe has been directly concerned by rare diseases, with two of her children suffering from a lysosomal disease. For 15 years, she has been a member of the boards of directors of national and European associations for rare diseases. She was a member of the INSERM ethics committee for six years.
Anne-Sophie Lapointe has a PhD and a master’s degree in health ethics and economics. Together with the director of Orphanet, she developed some actions in the French National Plan for Rare Diseases 3 (PNMR3), focusing on information, training and e-health. In October 2018, having stepped down from her positions in associations, she joined the Ministry of Health’s rare diseases unit. With the ministry of health, research and industry, she is responsible for steering and coordinating the 75 actions resulting from the PNMR4 launched on 25 February 2025. In this capacity, she sits on the European Commission’s Member States Board for European Reference Networks (ERNs) for rare diseases and coordinates the WP8 on data management for the JARDIN (Joint Action rare Diseases INtegration) joint action funded by the EU4HEALTH programme.