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rdd logoThe Rare Disease Day - held on the last day of February since its first celebration in 2008 - serves to raise and deepen awareness of rare diseases among the general public, public authorities and decision-makers. It brings together people affected by a rare disease, patient organizations, medical professionals, researchers, industries and politicians throughout the world.

This year’s event has the slogan “Join us in making the voice of rare diseases heard”. It’s goal is to acknowledge rare diseases as a priority of the public health policy, to improve research on rare diseases and orphan drug development and to achieve access to earlier and better diagnosis and quality treatment and care for patients with rare diseases.

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.



Rare eye diseases

Rare eye diseases are a major cause of yet untreatable vision loss. They represent one of Institut de la Vision’s priority areas of fundamental and clinical research, focusing on understanding genetic mechanisms associated with ocular pathologies, phenotypic and genotypic characterization and correlations of patients, concept and development of therapeutic strategies for vision preservation and restoration.

Clinician-researchers at Institut de la Vision and at the Clinical Investigation Center of the Quinze-Vingts Hospital conceive and conduct clinical research studies on new diagnostic and therapeutic solutions for frequent and rare eye diseases. Using powerful methods for characterizing patients (proteomics, metabolomics, genomics, real-time non-invasive high-resolution imaging techniques, etc.), they design and propose specific clinical decisions. Highly innovative therapeutic approaches for rare eye disorders, including retinal prosthesis (retinitis pigmentosa) and gene therapy (Usher syndrome, Stargardt's disease, Leber’s hereditary optic neuropathy) are currently under evaluation.

Research holds promise for improved medical decision making and more effective management of rare eye diseases. The Institut de la Vision offers strong scientific expertise and deep commitment to achieve these goals.