Congenital variant of Rett syndrome: from gene identification to gene editing

Venue: Edificio Povo 1, via Sommarive nr. 5, Povo (Tn) - Room A104
 At 11.00 a.m.

• Alessandra Renieri - Medical Genetics, Faculty of Medicine and Surgery University of Siena, Siena

Prof. Dr. Alessandra Renieri first discovered, in 2008, the association between FOXG1 gene mutations and a severe disease in humans: the congenital variant of Rett syndrome. In the following years she developed expertise in induced Pluripotent Stem Cells (iPSCs) characterization and differentiation in neurons from FOXG1 patients with the aim to dissect the pathogenetic mechanism. She follows the majority of FOXG1 patients in Italy and her Medical Genetics Department is a referral center for patients in Europe. She recently proposed to use CRiSPR/Cas9 technology to edit FOXG1 mutations. This project will specifically cut the mutated allele and edit it using a donor DNA harbouring the normal sequence. To allow the CRiSPR/Cas9 correction system to enter the cells, a viral system (AAV = Adeno-Associated Virus) will be used as carriers. Preliminary experiments during the ongoing first funded year demonstrate a an efficient correction in patient-derived cells.