Hélène Dollfus trained in Strasbourg, Paris and London and is a MD specialized in ophthalmology as well as medical genetics. She is appointed as a professor in medical genetics and as a consultant in medical genetics at the Strasbourg University Hospital (HUS) where she is the head of the medical genetics department. She is the coordinator of the Centre for Rare Genetic Ophthalmic Diseases located in Strasbourg and is the national coordinator for the rare disease network on sensorial genetics: the SENSGENE filière. After obtaining her PhD she set a research group focused on the field of syndromic retinal degenerations and more widely on the ciliopathies group of diseases. She has set the Medical Genetics Research Laboratory at the Strasbourg University (UNISTRA) also recognised as an INSERM unit (U1112). Since 2011 she is the vice president for research of the steering committee of the second French National Rare Disease Plan (PNMR2). HD is a senior member of the Institut Universitaire de France (IUF). In the last two years she has been awarded : the Grand Prix Robert Debré (2014) ; the Prix recherche INSERM (2014) ; the Prix FondactionAlsace Talent d’avenir ( 2015).