Human Stem Cell-based Models for the Study of Rett Syndrome: Overview and Perspectives (Georgian)

In this talk, Sonia Guil will summarise the recent advances in the development of human cellular models for the study of Rett syndrome.  

In particular, the generation of patient-derived induced pluripotent stem cells (iPSC) and their differentiation in vitro to generate mature neural cells has revolutionized research in Rett syndrome, since it has allowed the study in the lab of neurons that resemble the cells present in the patient’s brain. Human neuronal cultures display morphological, molecular and functional defects that represent well the characteristic features of the disease. Thus, these systems are powerful tools for both mechanistic studies (that aim to provide a better understanding of Rett syndrome physiopathology) and therapy-oriented assays (where different strategies and compounds can be tested in a humanized environment). The development of three-dimensional cultures that mimic the native environment of human neurodevelopment, and the ability to create and fuse different brain region-specific organoids where the complex interrelations between brain layers can be studied foresee new exciting developments in the field of human models for Rett research.  

A historical overview of the advances in the field of stem cells applied to Rett syndrome, together with the most relevant studies to date employing these tools, will be given.