The best young scientist oral presentation Prize at the 4th SIGE Conference was awarded to Eirini-Maria Georganta (Skoulakis Lab) for the work entitled: “Genotype-phenotype correlations in Neurofibromatosis type 1”.
Neurofibromatosis Type 1 (NF1) is an autosomal dominant, multisymptomatic, and characteristically clinically variable disorder. Τhe work of the BSRC Fleming team is based on the hypothesis that distinct Nf1 mutations affect differentially known and novel functions of neurofibromin, possibly in a cell-type-specific manner, thus contributing to the variability of NF1 pathologies. Novel models in Drosophila and mouse aim to address this hypothesis and contribute towards personalised understanding and treatment of human Nf1 mutations. The work was presented by Eirini-Maria Georganta (Skoulakis Lab) at the 4th SIGE Conference and was awarded the Prize for the best young scientist oral presentation.