R. Avagliano Trezza

In August 2010 I moved to the Netherlands from my hometown, Cava de’ Tirreni, a small valley in the south of Italy. Here I conducted research as a phD student at the medical biochemistry department of the Amsterdam Medical Centre (AMC-UvA). During those years I studied in depth the ubiquitin E3 ligase UBE3A, whose defective regulation and expression lead to Angelman syndrome development. Following the end of my phD journey, I continued working on UBE3A in the neuroscience department of the Erasmus MC (Rotterdam) where I focused more on UBE3A intracellular regulation and localization. I am a biochemist by training, but thanks to this experience I learned to appreciate the fine and delicate mechanisms that regulate the human brain. Here I acquired the ability of working with mice models as well as culturing neurons of both murine and human (IPSCs derived) origin.

On May 1st 2020 I joined Prof. Bert Smeets and Dr. Florence van Tienen’s study on MDC1A (Merosin-Deficient Congenital Dystrophy type 1A), a very rare, congenital muscle disease. Here I will focus on developing strategies to correct the genetic defects in mesangioblasts of MDC1A patients making use of the latest discoveries in the CRISPR/Cas9 field.