Alessandra Renieri
Alessandra Renieri MD-PhD, Full professor in Medical Genetics, leading one of the biggest Medical Genetics center in Italy at University Hospital in Siena offering genetic counselling, genetic test and gene editing for rare diseses and genetic cancers. Health Care Provider representative/subrepresentative of several European Reference Networks (ERNs) including ITHACA, ERKnet, PAEDCAN, EURObloodNet, EURACAN. In the pre-genomic era, she contributed to map and cloning several genes including those of ocular albinism, FACL4 and other X-linked mental retardation genes. In the post-genomic era the reasearch focus was on microdeletion syndromes first and digenic diseases then. Since 2010 she started to model Rett syndrome spectrum (MECP2, CDKL5 and FOXG1) with iPSC-derived neurons. Since 2017 her reasearch interest is focused on gene editing using crispr systems and its translation to clinical practice. Currenly she is running four gene editing projects. Three are using Crispr/Cas9 and AAV system and are related to Rett syndrome (FOXG1 variant), Parkinson (LRRK2 and GBA) and Alport syndrome (COL4A5). One is using Crispr/Cpf1 and lentiviral vector and it is related to Chronic Lymphocytic Leukemia and other TP53 mutared cancers. In 2017 she was elected coordinator of Network for Italian Genomes NIG (www.nig.cineca.it).