IAGSA 2008-2010

INSTITUTIONAL ACTIVITIES
2008-2010
 
Participation in “Costo sociale e bisogni assistenziali nelle malattie rare”, a pilot study conducted by the Istituto Affari Sociali (Italian Institute of Social Affairs).
Together with 11 other associations devoted to rare diseases, this study was conducted in order to encourage the creation of a more functional link between the requests and needs of our families and the interventions that should be the responsibility of social and welfare organisations.
An analysis of the social cost of rare diseases, through this study, represents the first step towards an assessment of the social and economic costs borne by the families. 
Rome,  25 May 2009 and13 May 2010, Istituto Affari Sociali
Families’ representative, Dr R. Oriano
 
Participation in “Le malattie rare in Lombardia rete, governo clinico, partecipazione e ricerca” a conference/debate on the approach to rare diseases in Lombardy attended by the Governor of Lombardy and the Regional Health Minister for the Lombardy Region.
Milan, 4 March 2010, Pirelli Building
Families’ representative, R. Oriano
 
Participation in meetings of the Lombardy regional delegation of UNIAMO centered upon PDTA plans (diagnostic therapeutic care plans) where it emerged that PTDA plans were deployed in 80 cases of rare diseases. The diseases included in PDTA plans are solely those mentioned in the Legislative Decree of 2001, which has not yet been integrated with 109 rare diseases (including AGS) subsequently included in the Decree of April 2008 (now expired).
IAGSA strongly stressed the need, pending the approval of the law, that also rare diseases not yet included in the above mentioned Decree should be covered by PDTA plans.
Milan, 8 May 2010, S. Paolo Hospital, Milan
Families’ representative, R. Oriano
 
Organization, in the context of the “3rd  European Rare Diseases Day” (28 February 2010),  of local IAGSA initiatives geared at increasing knowledge and awareness of rare diseases, especially AGS, among young people. 
In particular, meetings were organised with the children from the primary and middle schools of  Lacchiarella.
Lacchiarella, February 2010 
N. Cairati
 
Organization of IAGSA funding events including charity dinners, which were a great success, attracting over 200 participants, and the VI “Trofeo per Diego” a volleyball tournament for female volleyball teams, one of which was “Quasar Volley per Diego”.
Lacchiarella, June 2010
N. Cairati
 
In July, 2010, the Lombardy Region added Aicardi-Goutières syndrome to its list of rare diseases, under the heading Leukodystrophies. 
           
 
SCIENTIFIC ACTIVITY 
2009
A) Creation and publication of an information booklet on Aicardi-Goutières syndrome, in  Italian and English. 
Pavia, 2009                                                                                                                               
President of  IAGSA, Mrs Fiammetta Boni Longo and the IAGSA Scientific Committee
B) Organisation of a seminar at the University of Brescia:
Aicardi-Goutières syndrome: update
Prof. E. Fazzi, Dr S. Orcesi, Dr C. Uggetti,  Dr R. La Piana
Brescia , 26 October 2009
 
C) Participation of IAGSA and IAGSA doctors at various congresses and events  
 
1) 5th International Conference on Rare Diseases and Orphan Drugs (ICORD)
Italian Superior Health Institute, Rome  23-25 February, 2009
Dr R. La Piana
Poster outlining the association’s main lines of research
 
2)  First Meeting of the Friends of Telethon (Telethon-supported associations)
XV TELETHON SCIENTIFIC CONVENTION
Palazzo dei Congressi, Riva del Garda (Trento)
9-11 March 2009
Dr R. La Piana , Dr S. Orcesi
Poster illustrating IAGSA, its aims and activities  
 
3) Tenth anniversary celebration of the UNIAMO FIMR Onlus federation
Venezia, isola di San Servolo,  2-5 July 2009
Poster illustrating IAGSA, its aims and activities  
Dr G. Ariaudo
 
4) Participation at the 38th meeting of the Société Européenne de Neurologie Pédiatrique (SENP)
Geneva, March 2010
Dr R. La Piana, Dr O. Orcesi, Prof. E. Fazzi
Poster presentation on “Celiac disease in Aicardi-Goutières syndrome: further evidence of the overlap with autoimmune diseases”
 
D) RESEARCH PROJECTS 
 
1) European project FP7
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. Y. Crow)
Prof. E. Fazzi, Dr S. Orcesi
Accepted for negotiation in November 2009; the project received EU approval and was launched on 1/7/2010
 
2) Submission of project for funding from the Italian Health Ministry: competition for funding under the 2008 Health Research Programme: research into rare diseases, area C 
Title of the project: Creation of a network for Aicardi-Goutières Syndrome supported by an advanced IT system: a model for improving knowledge of prevalence, diagnosis, research and care in a rare disease
IRCCS Mondino in collaboration with CBIM
Prof. E. Fazzi, Dr O. Orcesi, Dr R. La Piana
Still under evaluation
 
3) Submission of project for Italian Ministry of Health targeted research funding 2009. Title of the project: Autoimmunity in rare diseases: from a network supported by an advanced IT system to diagnosis, natural history, research and care in Aicardi-Goutières syndrome with application to other autoimmune disorders
S. Orcesi
4) Continuation of research coordinated by Prof. Izzotti in Genova: Development, in preclinical experimental models, of therapeutic strategies for Aicardi-Goutières syndrome 
5) DATABASE project: 
Creation of a preliminary AGS database in collaboration with CBIM (Cristiani, Pagani, Dr Landro)
 
 6) Meeting with Dr F. Storici. Georgia Institute of Technology, School of Biology,  Atlanta, USA
 
7) Continuation of collaboration with Prof. Lebon: Questionnaire sent to families in order to conduct an initial investigation of the effect of vaccinations in individuals affected by AGS.
 
 
NEW PROJECTS for 2010
 
1) Start of a new collaboration with Dr Antonella Meini, Dr  Marco Cattalini, and Prof. Alessandro Plebani, Immunorheumatology Unit, Paediatric Clinic, Spedali Civili, Brescia, in order to explore aspects linked to autoimmune disease
 
2) Start of genetic screening for AGS1 (TREX1) AGS2, to be conducted at the Neurogenetics Laboratory   of the C. Mondino National Institute of Neurology (the only Italian centre currently performing this analysis) 
 
3) Completion of the database project; creation of the definitive database and input of data on patients currently known to IAGSA.
 
4) Updating of follow up of known cases, in the light of recent scientific advances
 
 
PUBLISHED PAPERS
 
1) Aicardi-Goutières syndrome.
Orcesi S, La Piana R, Fazzi E.
Br Med Bull. 2009;89:183-201. Epub 2009 Jan 7. Review
 
2) Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients.
Izzotti A, Pulliero A, Orcesi S, Cartiglia C, Longobardi MG, Capra V, Lebon P, Cama A, La Piana R, Lanzi G, Fazzi E.
Brain Pathol. 2009 Oct;19(4):650-60. Epub 2008 Oct 23
 
3) Aicardi-Goutières syndrome: neuroradiologic findings and follow-up.
Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E.
AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6.
 
4) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.
Nat Genet. 2009 Jul;41(7):829-32. Epub 2009