Giulia Gavezzoli |
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Functional Assessment of Glaucoma Candidate Disease Genes using Genetically Modified Retinal Organoids
I joined the Ophthalmogenetics group at the Department of Human Genetics, Amsterdam UMC, in September 2023 as a PhD candidate for this project. My research focuses on investigating the cellular and molecular mechanisms of clinically relevant FOXC1 gene mutations using human retinal organoids. I am jointly supervised by Dr. Anneloor ten Asbroek (Amsterdam UMC) and Dr. Coralie Fassier (Institut de la Vision), who will oversee my work during my one-year secondment at Institut de la Vision in Paris. During this secondment, I will further explore these mutations using a zebrafish model, allowing for a complementary and comparative approach to understanding FOXC1-related glaucoma.
Personal Background and Interest
I have always been fascinated by neuroscience and cutting-edge technologies, which led me to pursue a Bachelor’s degree in Biotechnology at the University of Ferrara (Italy). During my undergraduate studies, I completed an internship at Prof. Annamaria Cattaneo’s Laboratory of Biological Psychiatry, where I investigated the role of inflammation in treatment-resistant individuals undergoing antidepressant therapy. I then obtained a Master’s degree in Cellular and Molecular Biotechnology from the University of Trento (Italy). During my final year, I conducted a research project at Prof. Carmen Sandi’s Laboratory of Behavioral Genetics, focusing on the role of Mfn2 in the link between adult hippocampal neurogenesis and mitochondrial function in a rat model of trait anxiety.
These research experiences shaped my scientific interests and ultimately led me to this PhD, where I can integrate my passion for advanced technologies, cellular and molecular biology, and neuroscience, while focusing on a unique and specialized part of the central nervous system: the human eye.
Aim of the project
My project aims to characterize human retinal organoid models of glaucoma and translate findings into rational therapeutic strategies. Currently, my research focuses on FOXC1 mutations, which are associated with congenital glaucoma, primary congenital glaucoma, and Axenfeld-Rieger syndrome. We are investigating the role of FOXC1 in retinal ganglion cell (RGC) survival and differentiation to uncover novel therapeutic targets. Findings in retinal organoids will subsequently be validated in a FOXC1-mutated zebrafish model.
Current activities/Accomplishments
As a result of my Master’s internship, I have a manuscript in preparation: “Mitochondrial function regulates adult neurogenesis and anxiety” – Gebara E., De Castro Abrantes H, Ulgen D., Gavezzoli G., Zanoletti O., Grosse J., Schneider B., Knott G., Toni N., Astori S., Sandi.
Currently, I am focused on characterizing various FOXC1 mutations and investigating their role in retinal organoid development.
In addition to my research, I am actively involved in outreach and science communication, managing the EGRET-AAA LinkedIn account and contributing to social media engagement for the network.