Hélène Dollfus

Associated chair

Paul Ehrlich Chair (2024-2026)

Hélène Dollfus is a consultant at the University Hospital of Strasbourg (HUS), with a double speciality in clinical genetics and ophthalmology, and professor of medical genetics at the University of Strasbourg. Based at the CRBS (Strasbourg Biomedicine Research Centre), she heads the medical genetics department at the HUS and coordinates the reference centre for rare disease that is dedicated to rare eye diseases (CRMR CARGO). On this same site of the Strasbourg campus, she heads the joint Inserm-University of Strasbourg unit (UMRS-1112, a former ATIP-Avenir team) called the Laboratory of Medical Genetics (LGM).

Her research focuses on a group of ultra-rare genetic diseases that combine eye conditions- in particular retinal degeneration - with damage to other organs. Ciliopathies are such a group of rare diseases that she has helped to decode clinically and genetically. Her research work has led to the discovery of over a dozen genes responsible for various ultra-rare syndromes, in particular the Bardet-Biedl syndrome where her involvement is at both the clinical level (steering the French clinical research cohort COBBALT) as well as the scientific level, in the cellular understanding of the mechanisms leading to dysfunction of the primary cilium affected in the cells of various organs using in vitro and in vivo models in order to determine biomarkers and therapeutic avenues. Her research also currently includes the piloting of a European study on the quality of life of visually impaired children (SeeMyLife) and a study on the use of AI in the interpretation of images of hereditary retinal dystrophies (RaReTiA).

Highly committed to improving care pathways for patients suffering from genetic diseases, Hélène Dollfus has contributed to the development of national plans for rare diseases and to the emergence of genomic medicine in France (French Genomic Medicine Initiative (PFMG), including the DEFIDIAG pilot study on the genomic diagnosis of intellectual disability). At the HUS, she coordinates the rare disease health sector FSMR SENSGENE in order to harmonise the shared activities of the French centres dedicated to rare sensory genetic diseases. Since 2017, she has been the coordinator of ERN-EYE (European Reference Network for Rare Eye Diseases) that brings together over 60 hospitals in almost all the Member States. Accredited by the European Commission, ERN-EYE is designed to optimise care and research in the field of rare ophthalmic diseases, for an improved circulation of clinical and research knowledge around rare diseases.

The Paul Ehrlich Chair

The Paul Ehrlich Chair in the life sciences was created in 2022, as one of three associated chair positions with a duration of two years, for Strasbourg-based researchers who have made an exceptional contribution to their field. The Chair is named in honour of Paul Ehrlich (1854-1915), a German physician and scientist who studied in Strasbourg and is widely recognized for his research on haematology, immunology and pharmacology. Known as the father of chemotherapy, he was awarded the 1908 Nobel Prize in Physiology or Medicine for his contributions to immunology. He was the founder of the present-day Paul Ehrlich Institute, a German federal institute for vaccines and biomedicines.