Understanding all aspects of aniridia and how to support children and families?
As Pediatric Ophthalmologist, Head of Department at the Necker University Hospital for Sick Children, rare diseases constitute our daily life for the sick. Involved in the management of rare diseases for many years, I have been part of the first rare diseases plan and am currently Coordinator of the Ophthalmology Rare Diseases Center OPHTARA located at Necker and which groups together 19 other centers distributed in France and overseas. The centers aim to optimize the diagnosis and care of patients suffering from rare diseases in ophthalmology and in particular with aniridia. We have developed research that links clinical observation and the correlation with the evolution of the disease and the genetics that we carry out with the laboratory of Molecular Biology of Necker and the INSERM team. I have also worked particularly on aniridia which is linked with other syndromic manifestations underlining clinical and genetic correlation. As President of the Medical and Scientific Council of the French Association Gêniris and of the European Association Aniridia Europe we work collectively for a better care of patients.
I am strongly involved with patients, especially children, and hope that the research of all the teams will allow us to set up innovative therapeutics to cure aniridia.