Research Centre for Medical Genetics
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The joint scientific project of the Research Centre for Medical Genetics and the Institute of Genetics, Udine-University (Italy) was awarded the international prize "1st Aniridia Europe Research Award 2020"

The joint research project of the Research Centre for Medical Genetics and Institute of Genetics, Udine-University (Italy) on the functional consequence of PAX6 missense mutation was awarded with the prize from the international scientific jury under Aniridia-Europe.

The results of the study of PAX6 gene mutations in a vast sample of patients with congenital aniridia from Russia indicate that the share of splicing mutations in the world databases was underestimated. Previously, the Research Centre for Medical Genetics has already confirmed the pathogenic role of several deep intronic variants and one synonymous replacement of PAX6 gene nucleotide sequence in congenital aniridia generation. T.A.Vasilyeva from the Laboratory of Genetic Epidemiology announced the results of that work in her oral presentation at the International Conference on Congenital Aniridia in Duisburg (Germany) in 2016, which served as a basis for the current international cooperation. Influence of missense mutation in PAX6 gene on its function will be tested by means of functional analysis in the context of this study. This mutation was found in an Italian cohort of patients with congenital aniridia.