The project led by Pietro Cacialli, researcher and lecturer at the Department of Biological, Geological and Environmental Sciences of the University of Bologna, is one of 26 winning projects selected from 146 proposals submitted under the joint call through which the Telethon and Cariplo Foundations allocated €3.6 million, raised thanks to donations from citizens.
The evaluation process was carried out by an international medical and scientific committee composed of 16 internationally recognised experts, chaired by Professor Massimo Pandolfo of McGill University in Montreal (Canada). Projects were selected through a peer-review process, ensuring quality, impartiality and transparency.
Neurodevelopmental disorders arise from alterations in the normal processes of growth and maturation of the nervous system. In some cases, such as intellectual disability, these conditions are associated with specific genes. This research project focuses on a particular gene, known as TELO2-Interacting Protein 2 (TTI2), whose function is still poorly understood.
A small number of recent studies have reported that TTI2 gene deficiency in five paediatric patients may be associated with a rare and severe autosomal recessive intellectual disability and primary microcephaly. However, the underlying cellular and molecular mechanisms have yet to be clarified.
The aim of the project is therefore to investigate the role of the TTI2 gene in the nervous system during embryonic development. To this end, the research group coordinated by Professor Pietro Cacialli has generated a zebrafish model organism (Danio rerio) with a deficiency in the TTI2 gene, using genome-editing techniques acquired by the project coordinator during significant international research experience. Zebrafish embryos are transparent and develop externally, making them an ideal model for studying organ development and identifying possible malformations.
The project will therefore adopt a multidisciplinary approach, spanning developmental biology, genetics, and cellular and molecular biology. Lastly, thanks to collaboration with the research group led by Giovanni Capranico at the Department of Pharmacy and Biotechnology of the University of Bologna, bioinformatic analyses will be used to identify potential therapeutic targets.
