In our amphitheater, a series of speeches succeeded one another: the winners we have been supporting for three years, Emilie Chessel and Mélissa Chapeau, presented the progress of their research. Alicia Defay-Stinat, 2025 prizewinner, presented her work on the identification and characterization of the regulatory elements of albinism genes.

Under the direction of Professor Benoit Arveiler from the Rare Diseases Genetics and Metabolism laboratory, INSERM U1211, of the university of Bordeaux, Alicia Defay-Stinat summarizes her subject of study: "Albinism is a rare genetic disorder, affecting approximately one in 13,000 people in Europe, and involving 21 known genes to date. Due to the clinical and genetic heterogeneity of this disorder, molecular diagnosis is particularly important to ensure appropriate patient care. This diagnosis is based mainly on the sequencing of the exons of the 21 albinism genes. However, 30% of patients remain without an established molecular diagnosis, suggesting the presence of pathogenic variants in other genomic regions. This project is based on the hypothesis that such variants are present in non-coding genomic regions that regulate gene expression. In order to improve the diagnosis rate, the regulatory regions of albinism genes are identified through a molecular study of the three-dimensional structure of the genome. Variants present in these regions are sought out and their pathogenicity is assessed.”

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