Consiglio Nazionale delle Ricerche

The Consiglio Nazionale delle Ricerche (CNR) is the main research agency in Italy. The research group belongs to the Instittue of Genetic and biomedical Research (IRGB) and is hosted in Milan at Instituto Clinico Humanitas (ICH) in a 20,000 square meter building that became operative in May 2007. In spite of the recent implementation of its research activity, ICH has been able to gather more than 200 scientists and plans to recruit more in the next few years. Many collaborations with Milan University and other Institutions in the Lombardy area have been established. In particular Telethlon Institute for Gene Therapy (TIGET) and the pahtology Department of Brescia University are active colaborators on several scientific projects.

Consiglio Nazionale delle Ricerche roles in SYBIL

In the SYBIL project, CNR will focus on novel therapeutic approaches concerning two different ARO subsets by exploiting mouse models, which faithfully recapitulate the phenotype of their human counterpart. They will pursue the potential role of MSC in the rankl-/- mouse model of RANKL-dependent ARO (WP3). The second objective will focus on the iPS-based protocol performed in the oc/oc mouse, the human homologue of TCIRG1-dependent ARO (WP2). This rpotocol includs generation and characterisation of iPS from mouse tail fibroblasts, followed by the correction of the defect by Zinc Finger Nuclease approach or by alternative techniques, and the differentiation toward the hematopoietic lineage. The experiments in the mouse model, if successful, will be subsequently transferred to the human situation.

Facilities available at CNR include all the instrumentation required for cell biology, genetic engineering and immunohistochemical procedures as well as molecular biology equipment.

Consiglio Nazionale delle Ricerche researchers involved in SYBIL

Dr Anna Villa – Anna is the Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). She has published more than 100 papers in international scientific journals, totaling 4082 citations and a Scopus "h" index of 34 and greatly contributed towards the molecular dissection of genetic bone disorders, focusing on Autosomal Recessive Osteopetrosis (ARO). Her group has identified TCIRG1 as the gene responsible for 60% of the ARO patients and contributed towards the characterization of two other forms of ARO due to a defect in the Grey Lethal and PLEKHM1 gene, respectively. More recently her group has described RANKL and RANK as genes responsible for the osteoclast poor ARO.  In addition, in the last 5 years, Dr. Villa's group has pioneered the use of the oc/oc model to test in utero cellular therapy; this has established that prenatal correction of the defect is possible, since almost complete rescue of the phenotype has been achieved. The contribution of  Dr. Villa in the molecular dissection of ARO has important implications not only for the molecular diagnosis, but also for the treatment of the disease.

Dr Cristina Sobacchi – is a senior PostDoc from CNR-IRGB, who has been working for ten years on ARO. She will be responsible for the analysis of osteopetrotic mice treated by in utero or post natal cell therapy.

Dr Francesca Ficara – is a senior PostDoc recently recruited after 6 years spent at Stanford University, will be responsible for iPSC differentiation toward hematopoietic cells.

Dr Veronica Marrella – a young PhD recently recruited at CNR , she will be responsible of the immunological characterization of mouse models.