Learn more about the RAI1 gene, a gene that plays a fundamental role from the earliest stages of embryo development. Understanding how its malfunction is at the origin of very severe rare diseases (such as Smith-Magenis and Potocki-Lupski) but, also, if it is responsible for more common pathologies of childhood neurodevelopment, characterized by learning and movement disorders such as epilepsy, schizophrenia, cognitive deficits and many other conditions such as autism.
The Research Teams at VIMM won the Just Italia Foundation Call and will be supported with a donation of 300,000 Euros for a three-year multidisciplinary project under the guidance of Prof. Maria Pennuto, Associate Professor at the University of Padua and Deputy Director of the Veneto Institute of Molecular Medicine (VIMM) in Padua.
The starting point of the research is the observation that children with RAI1 gene mutations manifest very early symptoms of cognitive and motor disorders but also severe eating and sleep disorders that heavily affect the quality of life of children and their families. It should be added that, to date, there are no effective drug therapies to deal with the syndromes related to this gene (behavioral therapies are, at the moment, the only modality of intervention) and to formulate an early diagnosis. For this reason, the Project of the Institute of Padua is of great scientific importance and aims to shed light on the mechanisms of genetic malfunction to contribute to the creation of new and effective therapeutic solutions.
To the Teams that will collaborate in the Research, bringing specific skills in molecular biology (VIMM Padua), in cell biology (Istituto Casa Sollievo della Sofferenza-Mendel in Rome, Prof. Angelo Luigi Vescovi and Dr. Jessica Rosati), in clinical practice (Policlinico Gemelli di Roma, Prof. Giuseppe Zampino and Dr. Roberta Onesimo), the contribution of family members of children suffering from a rare disease connected with the RAI1 gene (Smith-Magenis Italia Association) will be added.