Projects – Epigenetics of Ocular Diseases group

Retinoblastoma is a rare cancer of the retina, which affects children in their early years of life and can be lethal due to metastasis if not treated rapidly. Current treatments including those developed over the last years, have greatly improved the survival and eye salvation of most patients. Nevertheless, the elaboration of new targeted treatments is today essential to face the most advanced cases and to improve the quality of life of these children. This step will be impossible without revealing the molecular aspects of the disease.

Genetic studies of retinoblastoma have led to the identification of biallelic RB1 inactivation, which although being a prerequisite for the disease development, is not sufficient for malignant transformation. Recent observations suggest that epigenetic mechanisms are responsible for the transition from benign to cancerous tissues.

The goal of our project is to unravel the epigenetic mechanisms involved in Retinoblastoma, to explain how these drive the tumor evolution. The final objective of our work is to further understand the intrinsic mechanisms of the disease, in order to specifically adapt future treatments.

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