IAGSA 2011
At the end of this, my first year as president of IAGSA, I feel it is important to take stock of the situation and summarise the activities in which IAGSA is involved, both those that have now been completed and those that are still in progress.
INSTITUTIONAL ACTIVITIES IN 2011
1) Participation in numerous meetings, both national and regional, organised by the UNIAMO federation and dealing with the issue of rare diseases. These meetings were organised both for training purposes, and as a means of liaising with the institutions – health ministry, regional governments – over the drawing up of a diagnostic-therapeutic care pathway for AGS, and over the inclusion of the disease in national and regional rare disease registries.
2) Participation in the Institute of Social Affairs pilot study entitled "Social cost and care needs in rare diseases". Conclusion, presentation and publication of results.
3) To mark the “3rd European Rare Diseases Day ” on 28 February 2011, we organised local IAGSA initiatives geared at spreading knowledge and raising awareness of rare diseases, especially AGS. In particular, in collaboration with the primary school and middle school of Lacchiarella, special educational meetings were organised, aimed at the youngsters.
4) Organisation of IAGSA funding initiatives which included charity dinners (a huge success, attended by over 200 diners) and the “Trophy for Diego” competition, which attracted numerous women’s volleyball teams including “Quasar Volley per Diego”.
5) In 2011, the Lombardy Region entered in the list of rare diseases, under the heading Leuokodystrophies, the indication of Aicardi-Goutières syndrome.
6) Raising of funds through the “5 per Mille” tool. This is an Italian tax law that allows people give a share of their taxes (5‰) to no-profit organisations.
7) Campaign to increase membership of the association (the membership fee remained €25,00).
SCIENTIFIC ACTIVITY IN 2011
1) EU FP7 project Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity (Coordinator: Prof. Crow) Prof. Fazzi, Dr Orcesi. The monitoring of patients followed up at the IRCCS C. Mondino Foundation continued. In particular, in recent months, data have been collected on the presence of autoimmune disease in parents and first-degree relatives of patients.
2) Start of a collaboration with the Paediatrics Clinic, Spedali Civili, Brescia, where Prof. Fazzi works. Collaboration with the Immunology Department: Dr Antonella Meini, Dr Marco Cattalini, Prof. Tincani, and Prof. Alessandro Plebani, Immunorheumatology Unit. The purpose is to explore aspects linked to autoimmune disease.
3) Continuation and refinancing of the research coordinated by Prof. Izzotti in Genoa, with the new “step”: “Development, in preclinical experimental models, of therapeutic strategies for Aicardi-Goutières syndrome”
4) Telethon approved a research project on Aicardi-Goutières syndrome submitted by Prof. Paolo Plevani of the Department of Biomolecular Sciences and Biotechnology, University of Milan, entitled “The role of RNaseH2 in the pathogenesis of Aicardi-Goutières syndrome”. The project was awarded a grant of € 295,300. Prof. Plevani received this funding from Telethon partly thanks to the fact that he contacted our Association. He has begun a collaboration with IAGSA that will allow him to assess how the results of his basic research may be linked to the clinical situation of patients with AGS.
5) DATABASE project: Creation of a first version of the database in conjunction with CBIM (Ing. Cristiani, Ing. Pagani, Dr Landro)
6) Activation of initial genetic screening for the AGS1 (TREX1) and AGS2 genes at the Neurogenetics Laboratory at the C. Mondino National Institute of Neurology Foundation(the only Italian centre performing this analysis).
I would like to thank all the doctors and researchers who are working for us, especially Prof. Fazzi, Dr Orcesi and Dr Olivieri, because their support allows us to go beyond mere "duty" and strengthens us as we work to generate hope for our children and try to give them a voice and a smile.
President of I.A.G.S.A.
Nadia Cairati