About MECPer-3D

MECPer-3D is an International project born in Siena. It is a pre-clinical study focused on Rett syndrome (RTT). The main purpose of the project is the validation of gene therapy, in the form of CRISPR/Cas9-based gene editing, as an innovative treatment for RTT. The project started thanks to the funding from the European Joint Programme for Rare Disease (call 2020) who, among many projects at European level, has chosen our RTT work. This important funding will allow us to take important steps forward and will give hope for the development of new clinical trials. MECPer-3D project developed thanks to the intense research work carried out by the team of the Medical Genetics Laboratory in Siena, directed by Prof. Alessandra Renieri. The Siena Genetics team works on the study of gene editing for therapy in various diseases, including RTT. Prof. Ilaria Meloni, the coordinator of MECPer-3D, is a key member of the RTT research group and has been studying the mechanisms of the disease for years gaining extensive expertise in the field of research applied to this pathology. The Siena team also includes Prof. Elisa Frullanti, associate professor and Project manager, and Dr. Susanna Croci, the postdoc who will deal with the experimental design. The strength of MECPer-3D is the collaboration between 4 internationally recognized research groups with different expertise. The consortium is indeed composed by Italian and European researchers, which each bring to the project a specific wealth of knowledge and experience. In addition to the coordinator's group, the team includes a second Italian group lead by Dott. Mario Chiariello , Group Leader at the Core Research Laboratory (CRL) of the Institute for the Study, Prevention and Network of Oncology (ISPRO). The collaboration of dott. Chiariello is essential to evaluate the correction effectiveness of our system by analyzing some specific biological mechanisms that are altered in Rett syndrome. Three European researchers will also participate: Dr. Julia Ladewig, Group Leader at the Institute of Reconstructive Neurobiology (University of Bonn), who, together with Dr. Andrea Carlo Rossetti, will develop brain organoids or 3D cell cultures starting from iPSCs generated from patient cells; Prof. Miguel Chillon, ICREA Research Professor at Vall d'Hebron Institut de Recerca (VHIR) and Universitat Autònoma de Barcelona (UAB) and dr. Angel Edo, who will deal with the creation and production of viruses with specific tropism for the central nervous system, that is, capable of specifically / mainly targeting the central nervous system; Dr. Yann Hérault, research director at the French National Center for Scientific Research (CNRS), group leader at the Department of translational medicine and neurogenetics, "Institut de Génétique, Biologie Moléculaire et Cellulaire" and director of the Mouse Clinical Institute-PHENOMIN National Infrastructure. Dr. Hérault, whose team includes Dr. Tania Sorg, Dr. Hugues Jacobs, Dr. Fabrice Riet and Dr. Mohammed Selloum, will be in charge of testing gene therapy in mice, the animal model chosen for in vivo studies.  The italian Rett Association, AIRETT, is also involved and will be invaluable for patients involvement and dissemination of knowledge about the project. Contacts with other european associations, to keep them updated on project advancemente, are also ongoing.