 |
Pro RETT Ricerca is an Italian association that supports and funds national and international scientific research on Rett syndrome. Founded in 2004 by a group of parents strongly motivated to find a cure for girls affected by this disease, Pro RETT Ricerca has created a strong link between families and researchers, contributing to social solidarity, scientific dissemination about the disease, international awareness of the importance of scientific research, and mutual support among families. |
|
Pro RETT Ricerca is a non-profit organisation (ONLUS) that is mainly funded by donations from private citizens and companies with a strong social conscience. In 2011, it helped to open the first Italian laboratory dedicated exclusively to Rett syndrome: the San Raffaele Rett Research Centre at the San Raffaele Hospital in Milan. Rett syndrome (RTT) is a genetic disorder that mainly affects girls and appears in early childhood. It is widespread throughout the world, with an incidence of 1 in 10,000 live births. Although rare, it is the leading cause of severe intellectual disability in females worldwide. The main cause of the disease is the MECP2 gene, which is also involved in other serious neuropsychiatric disorders that can affect both males and females, such as autism, intellectual disability, depression and MeCP2 duplication syndrome. Girls affected by Rett syndrome are born and grow up apparently normally for the first 6-18 months of life, then suddenly a phase of regression sets in, which quickly leads to the loss of previously acquired skills: walking, speech, use of hands. Over the years, many other symptoms appear, such as severe psychomotor retardation, epileptic seizures, respiratory irregularities, severe forms of scoliosis, muscular hypotonia, sleep and eating disorders. The disease then stabilises and girls reach adulthood in these difficult conditions. The Pasturo Team will donate €1 from each athlete's registration fee for the Grigne SkyMarathon to the PRO RETT Research Association. |
|