IT IS CALLED RAI1 and it is a gene that plays a fundamental role from the earliest stages of embryo development. It is known that its malfunction is at the basis of rare genetic diseases, such as the Smith-Magenis syndrome and the Potocki-Lupski syndrome, characterized by cognitive deficits, sleep disturbances, neuropsychiatric problems, anatomical or cardiovascular defects. And precisely because of this broad spectrum of clinical symptoms, it is believed that RAI1 mutations may also be involved in many other childhood neurodevelopmental pathologies that cause learning and movement problems, such as epilepsy, schizophrenia, cognitive deficits and autism spectrum disorders. To investigate this possibility, and promote the development of new therapies that would restore hope to many families, an all-Italian multidisciplinary project is about to start, coordinated by the Veneto Institute of Molecular Medicine (VIMM), made possible thanks to a tender of 300 thousand euros. of the Just Italia Foundation.
Eyes on the RAI1 gene
The research, led by Maria Pennuto, deputy director of the VIMM, arises from the observation that children with mutations of the RAI1 gene 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 . And for which there are no effective drug therapies or tools to make an early diagnosis. Behavioral therapy, to date, is the only way forward.
“By studying two rare and terrible diseases such as the Smith-Magenis and Potocki-Lupski syndromes we understood that the malfunction of the RAI1 gene can generate a set of pathological effects on the neurodevelopment of children”, explains Pennuto: “Researchers will work to understand the origins and the effects of this dysregulation and, we hope, to contribute to the development of new pharmacological therapies capable of effectively treating rare diseases, and also for the benefit of an increasing number of children affected by particular neurodevelopmental syndromes, pathologies and conditions such as, for example, schizophrenia or autism ”.
I study
The research will be collaborated by the VIMM of Padua, specialized in molecular biology, the Casa Sollievo della Sofferenza-Mendel Institute in Rome, which will make available its skills in cell biology, the Gemelli Polyclinic in Rome, thanks to its clinical experience, supported in this case also by the Smith – Magenis Italia association, which will add the contribution of family members of children suffering from a rare disease connected with the RAI1 gene.
The Scientific Project was selected by the Just Italia Foundation with the “shared choice” method, which has always been adopted for the annual National Call dedicated to scientific research or socio-health assistance projects aimed at children. The first screening, among the dozens of papers received by the Foundation from third sector subjects, was conducted with the specialist support of AIRIcerca, the Association of Italian researchers in the world. This was followed by the selection of three finalist projects, carried out by the Board of Directors of the Foundation, supported by the Management Committee to finally get to the vote by the Just Italia sales force who decreed the winner.
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