IAGSA 2012-2013
INSTITUTIONAL ACTIVITIES IN 2012
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
2) To mark the “4th European Rare Diseases Day ” on 28 February 2012, 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.
3) Participation, as speakers, at a Washington congress on AGS organised by American families and clinicians. We participated in this event with a dual aim: first to illustrate how IAGSA is a groundbreaking model of organisational synergy between families and physicians, thanks to which AGS had become known internationally and been able to support for scientific research; and second to encounter and “compare notes with” a setting very different to our European one.
4) Organisation of the meeting, held on 3 July 2012, entitled “WHAT’S NEW IN AICARDI-GOUTIÈRES SYNDROME? UPDATES FROM THE NIMBL EUROPEAN PROJECT AND IAGSA” in collaboration with researchers from the NIMBL European project. Leading Italian and international experts involved, in various capacities, in the study of this disease attended the event and presented the new advances in the field. The meeting was aimed primarily at families, and it was indeed very well attended by families from all over Italy as well as from other countries, particularly European ones.
5) Organisation of IAGSA funding initiatives including charity dinners, which were a great success.
6) Raising of funds through the “5 per Mille” tool. This is an Italian tax law that allows people devolve a share of their taxes (5‰) to no-profit organisations.
INSTITUTIONAL ACTIVITIES IN 2013
1) Involvement, as a UNIAMO member association, in consultations of patient organisations with a view to improving the National Plan for Rare Diseases (PNMR).
In particular, emphasis was placed on the need for a rapid update of Italian Presidential Decree 279/2001, in order to allow all sufferers of rare diseases access to Diagnostic Therapeutic Care Pathways (Piani Diagnostici Terapeutici Assistenziali, PDTA) and basic levels of care(Livelli Elementari di Assistenza, LEA).
Rome, 18/1/2013
2) Participation in the project entitled “DETERMINAZIONE RARA” funded by the Italian Ministry of Labour and Social Policies and by UNIAMO F.I.M.R.
The first two modules concerned the active role played by people with rare diseases and their associations in the evaluation, development and verification of scientific research on rare diseases. Aspects covered: the good practice of informed consent, ethics committees, technical and scientific committees as tools for understanding and acting proactively, biobanking and research.
Rome, 8-9 November and 13-14 December 2013
3) Connecting families. IAGSA’s efforts to connect families are an important part of the association’s activities. In 13 years, the association been in contact with 90 families: 40 Italian and the rest from other parts of the world.
4) Participation in research projects IAGSA endeavours to ensure that there is contact between families and research projects. A major difficulty in managing research into a rare disease is finding and obtaining the collaboration of patients affected by it. Thanks to IAGSA’s involvement, it has been possible:
- to obtain funding, given that, through our efforts, an adequate number of samples could be assured
- to promote direct exchanges of medical information between researchers and families
- to have, for the families, more detailed information on the outcome of research and studies conducted
- to ensure that the “patient’s point of view” is heard within the research setting.
5) Fundraising: several fundraising activities have been undertaken: raising awareness of the “5 per Mille” instrument, organisation of events, dinners, sports galas.
6) Management and reorganisation of the website: the association has begun to review and revise the content of the website, starting with an updating of the bibliography. The texts and scientific information are soon to be updated.
7) Management Membership campaign (the membership fee is still €25,00)
Report of the “scientific area” part of the IAGSA ordinary meeting
Pavia, 29 April 2014
1) The three-year scientific project (NIMBL) on Aicardi-Goutières syndrome (AGS) approved and funded by the EU and coordinated by Dr Yanick Crow ended in December 2013. The project was judged very favourably by the EU and the key role played by IAGSA in recruiting the sample was highlighted.
Results of the project: 370 subjects with AGS/chilblain lupus/cerebral leukodystrophy (the latter two conditions accounted for less than 10% of the sample) were recruited.
Italian contribution. The Italian team:
A) - contacted 73 families (Italian and from other countries) with definite or suspected cases of AGS
- entered 65 patients (patients and their relatives) into the database
- identified 52 subjects with positive genetic tests
B) reviewed, through a team of experts (Dr Uggetti, Dr La Piana, Dr Livingston…), the neuroradiological images (MRI/brain CT scans) of 94 children from the recruited sample in order to look for a specific neuroradiological pattern and possible genotype-neuroradiological phenotype correlations. The relative data are now being processed.
2) The research project carried out at the University of Genoa, coordinated by Prof.Izzotti, is in its final stages. A seminar to present the results of research conducted is being planned.
3) The research project funded by the Cariplo Foundation and entitled “ Processing of RNA: DNA hybrid molecole by RNaseH in the pathogenensis of Aicardi-Goutières Syndrome and other autoimmune disease” has been approved. Scientific coordinator: Dr Plevani, University of Milan; in collaboration with the University of Brescia and the C. Mondino National Neurological Institute Foundation in Pavia.
4) A final decision is awaited on the two research projects on AGS submitted in 2012 to the Regione Lombardia (Lombardy Regional Government) by, respectively, the Pavia team (Prof. Balottin and Dr Orcesi) and the Brescia team (Prof. Fazzi). These projects were positively received by the Regione Lombardia which has requested that they be combined and the relative budget reduced.
5) There are plans to strengthen the diagnostic capacity of Italian laboratories:
a) At the A. Nocivelli Institute of Molecular Medicine of the Civil Hospital of Brescia, the method for detecting the interferon signature is currently being developed; this is a test that can currently be performed at the University of Manchester (Dr Rice/Prof. Y. Crow).
b) At the laboratory of the C. Mondino Foundation in Pavia, the method for detecting the interferon signature is currently being developed and it is planned to extend screening for the genetic diagnosis of the syndrome from the two genes currently screened to the main six genes involved, through the Next Generation Sequencing method.
6) Work continues at the Civil Hospital and University of Brescia, in collaboration with the C. Mondino Foundation in Pavia, to obtain a better characterisation of the immunological profile of AGS (looking at the immune structure, the real incidence of autoimmune disease, genotype-phenotype correlations and seeking to increase knowledge of the pathogenic mechanisms underlying the syndrome) as well as greater understanding of the aetiopathogenetic aspects and therapeutic prospects (skin biopsies, used to create pluripotent stem cells that could provide a human model of the disease, would make it possible to study the neurons, astrocytes and cells of the immune system and to test the effectiveness of potential new drugs).