The researchers, Simão Rocha and Evguenia Bekman, from Institute of Bioengineering and Biosciences (iBB) of IST were recently awarded by the Angelman Syndrome Alliance with €170,000 for the project “Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome”. In this competitive call with 15 projects of research teams from different countries, three of which were Portuguese, the project from the IST team was one of the two selected projects.
The awarded project initiates in September and lasts for three years. The project is co-headed by Simão Rocha, a specialist in stem cell biology and epigenetics and Evguenia Bekman, a specialist in neuronal differentiation. They will coordinate a team with cross-disciplinary expertise including Sofia Duarte, a neuropediatrician from Hospital D. Estefânia, Nuno Morais, a computational biologist from Instituto de Medicina Molecular and the members from the Stem Cell Epigenetics Lab led Simão Rocha with expertise in molecular biology (Miguel Casanova and Adriana Vieira), and bioengineering (Carina Maranga).
In this project, researchers will study Angelman syndrome, a rare neurodevelopmental disorder characterized by severe developmental delay, impaired speech, motor incoordination and frequent atypical episodes of smiling and laughter. In the words of Evguenia Bekman: “This project aims to explore whether dysfunction of the cerebellum, a specific region in the brain, plays a major role in motor impairment and intellectual disability of patients with Angelman syndrome”. As explained by Simão Rocha, “we will use a stem cell-based approach to generate cerebellar organoid from induced pluripotent stem cells (iPSCs) of patients and genetically-matched controls to model Angelman syndrome in the Petri dish to identify molecular hallmarks of the disease”. The final goal is to streamline this “cerebellum-in-a-dish” model to help future drug discovery efforts to improve the lives of patients with Angelman syndrome.
As Evguenia Bekman says “we are extremely excited to start this project and we sincerely hope to make and important contribution to the patients and families”. Simão adds “we really want to thank ASA for their thrust, and also ANGEL, the Portuguese Angelman Association, for their constant encouragement and also all the support from the iBB direction and colleagues at the Stem Cell Engineering Group (SCERG)”.
