Eleonora is a 3rd-year PhD student evolving in parallel at the University of Turin in Italy and Côte d’Azur University within the framework of the Vinci Program 2020 funded by the French-Italian University. The Vinci Program promotes the collaboration between the Italian and the French universities, allowing the doctoral students to carry out their work under the joint responsibility of two thesis directors and to, simultaneously, obtain the Italian and French academic degrees at the end of a single final discussion.

In this context, Eleonora is currently spending her 3rd year of PhD at the iBV in Michèle Studer’s lab, that is particularly interested in the pathophysiological mechanisms involved of the Bosch-Boonstra-Schaaf Optic Atrophy intellectual Syndrome (BBSOAS), a rare neurodevelopmental disorder caused by mutations in the NR2F1 gene.

During her stay at the iBV, Eleonora dedicates her time to translate the Dr. Studer’s lab work on the BBSOAS onset from mouse models to human cell culture model utilizing iPSCs, an approach that offers a unique opportunity to bridge the gap between benchwork and clinical relevance. Along this journey, Eleonora hopes to identify novel molecular pathways involved in the mitochondria morpho-function and dynamics dysregulations in the context of the BBSOAS.

If you want to learn more about Eleonora’s fascinating both project and journey, don’t hesitate to have a look at her presentation, available on the iBV common server.

(By Eleonora Dallorto and Margot Noguères)