Scientific and institutional activities in progress

1.  Production of a new “booklet” A new booklet describing the disease and outlining the latest scientific discoveries has been produced by the Scientific Committee of IAGSA with the help of other collaborators. The content of the booklet is highly scientific, but it has been written in lay terms so as to be comprehensible to families and those without a scientific background.
By: Elisa Fazzi, Simona Orcesi, Roberta La Piana, Jessica Galli, Martina Oriano

2.  Participation in the Italian EUROPLAN II conference held in the Auditorium S. Paolo at the Bambino Gesù Pediatric Hospital in Rome, which included, as an integral part of the event, the presentation of the results of the working groups. The European project EUROPLAN 2012-2015 aims to bring about the development of national  plans and/or strategies for rare diseases and it is co-funded by the European Commission (DG-SANCO) as part of the more general EUCERD Joint Action, which is led by the University of Newcastle. The EUROPLAN 2012-2015 project is coordinated by the Centro Nazionale Malattie Rare dell’Istituto Superiore di Sanità (National Centre for Rare Diseases of the Italian National Institute of Health). The  EUROPLAN II conference was organized by UNIAMO FIMR Onlus in collaboration with all sector stakeholders. This event was the natural continuation of the EUROPLAN 2008-2011 experience, which laid the foundations for the development of national plans for rare diseases, due to be adopted by 2013, in accordance with the European Council Recommendation on an Action in the Field of Rare Diseases (2009/C 151/02).
Participant: Zaccagnini family    

3.  Participation (27/2/2015) in the event (“VIVERE CON UNA MALATTIA RARA Giorno per giorno, mano nella mano”, LIVING WITH A RARE DISEASE, day by day, hand in hand) held at the Chamber of Deputies of the Italian Parliament to mark world Rare Disease Day 2015. The good news today is that the care and benefits guaranteed by the Health Service (as essential levels of care) now extend to 110 rare diseases, including AGS.
The Italian parliamentary intergroup on rare diseases was set up on 29 February 2012, to coincide with the Rare Disease Day, the aim being to promote coordination of interest, and also sustained interest, in an issue that is anything but "rare." According to its president Paola Binetti,  t he intergroup is as a necessary step to make sure there is ongoing dialogue on this issue between the different political parties, and between politics and the healthcare sector. It intends to maintain strong relations with scientific associations and patient organisations, so as to urge the government to take effective decisions on rare diseases, and in the shortest time possible. Its aim is to give substance to many good intentions. She also underlined that attention to people with rare diseases is an act of justice in line with the Italian Constitution, which provides for a universal right to health: no one must be left alone. Focusing on rare diseases amounts to a very strong incentive for advanced scientific research.   
Participant: Roberto Oriano

4.  Participation in “XVIII Convention Telethon” (9-11 March), Riva del Garda. This event, the eighteenth biannual Telethon convention, saw the participation of numerous associations and 600 researchers. During the meeting the researchers presented the latest developments emerging from their work. The scientific programme covered a range of topics, from animal experiments to the integrity of scientific research, relations with industry and the state of progress of therapies under development. Several members of Telethon’s Scientific and Medical Committee took part in the proceedings, as did the president and members of the Foundation’s  Scientific Advisory Board. There were also contributions from members of the international scientific community.  
Participant: Nadia Cairati

5.  On March 9 and 10, 2015, taking place in parallel with the scientific Convention, there was also the IV Meeting of Patients from associations with friendly links to Telethon, which include IAGSA. 
Participant: Nadia Cairati

6.  Participation (14/3/2015) in the Extraordinary Meeting of the National Federation of Rare Diseases UNIAMO. The meeting dealt with important statutory changes to the federation’s structure.
Participant: Roberto Oriano    

7.  Participation (21/22 May 2015) in a meeting held at the Italian National Institute of Health (ISS) on: The development of a shared model for a “rare diseases regional coordinating group” and the drawing up of recommendations for the drafting of “diagnostic, therapeutic and care pathways” and “individual therapeutic and care plans”. The support facilities.
“Press Conference” to present the results of the CAROUSEL project and its dissemination, held in the press room of the Italian Parliament (Sala stampa della Camera).
Participant: Roberto Oriano

8.  Participation (28/7/2015) in the first national meeting of (Biobanking and BioMolecular Resources Research Infrastructure of Italy), held at the University of Milano-Bicocca (UNIMIB). The meeting saw the participation of all the Italian biobanks involved, the National Institute of Health, companies, scientific societies and … the associations already active or interested in biobanking.
Participant: Roberto Oriano

9.  Participation (1/10/2015) in a narrative medicine event on drugs for rare diseases at the Military Chemical and Pharmaceutical Institute which, as well as serving primarily to meet the healthcare needs of the Armed Forces, has always collaborated with other institutions in the sector, producing various types of medical supplies (drugs, medical devices, foodstuffs, supplements, medical equipment, etc.).
Moreover, it has always collaborated actively and effectively with a number of universities (Florence, Siena, Rome, Pavia) in joint research and training activities and in the production of orphan drugs, i.e. drugs that, although of undoubted clinical-therapeutic benefit, are not developed, produced and made available by private pharmaceutical companies, essentially because they have limited commercial value; indeed, they are used to treat conditions, defined as rare diseases (we are talking about 6000–7000 different types), which affect a relatively small number of people. In Europe, a disease is considered rare when its affects 1 in 2000 (has an incidence of 0.05%), but the truth is that even that single (unfortunate) patient is fully entitled to be cared for properly and with the best drugs and medical aids made available by the international scientific community. Since 2013, the Military Chemical and Pharmaceutical Institute has been producing niaprazine, a sleep aid that is used by children affected by AGS, but which is no longer marketed in Italy. In 2015, the Military Chemical and Pharmaceutical Institute organised this information meeting, in which they involved patients or relatives of patients who use the orphan drugs they produce, inviting them to tell their stories. IAGSA president Nadia Cairati, herself the mother of an affected child, was invited to take part and recount her own experiences.
Participant:  Nadia Cairati

10.  Participation (9/10/2015), with UNIAMO, in a PlayDecide workshop in Milan in which citizens, patients with rare diseases, their relatives, researchers, healthcare professionals, science communicators and industry representatives were actively involved in simultaneous multidisciplinary sessions of PlayDecide, a discussion game certified by the European Commission ( Using the PlayDecide kit (a simple but effective interactive tool), controversial aspects of two innovative scientific areas, i.e. regenerative medicine and orphan drugs, both with strong implications for individuals and for society, were examined in depth and discussed. The purpose of the workshop, involving all those who have a real involvement in the field, was to facilitate the adoption of participatory methods in the development of science, and to promote a swapping of experiences and knowledge on open scientific questions, exploring both scientific aspects and related ethical, legal and social aspects. All this with the aim of: 
- consolidating an interactive setting in order to foster and develop informed opinions; 
- engaging in discussions relevant to decision making in cutting-edge settings, such as those being opened up by biotechnologies; 
- creating a platform for scientifically informed citizens. 
Participant: Nadia Cairati

11.  Participation (7-8/11/2015) in empowerment workshops for associations on HOW THE NEW EUROPEAN RULES ON TESTING CHANGE THE ROLE OF THE PATIENT, held at the FIMR UNIAMO (Rare Diseases Italy) federation headquarters
The new European regulations on clinical trials of medicinal products for human use, approved in Spring 2015 and effective in Italy as from 2016, strongly promote ongoing action to ensure: inclusion of citizens generally, and proactive involvement of trial participants; public information on the progress of approved studies; accessibility to the results of trials, whatever they may be.
Participant: Roberto Oriano

12.  Participation (10/12/2015) in an Open Day on the National Plan for Rare Diseases, held at the Ministry of Health Auditorium
This was an event organised by the Italian Ministry of Health and the National Centre for Rare Diseases of the Italian National Institute of Health. Its purpose was, on the one hand, to collect ideas and proposals on how to improve implementation of the current national plan for rare diseases (PNMR), and on the other, to elect, through the votes of the associations present, three representatives from different federations/associations, who will take part in technical committees being set up, which will be important instruments in the decision-making processes concerning the revision and implementation of the new PNMR.
Participant: Roberto Oriano 

13.  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.

14.  Fundraising: several fundraising activities have been undertaken: raising awareness of the “5 per Mille” instrument, organisation of events, dinners, sports galas.

15.  Fundraising through the “5 per Mille” instrument

16.  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.

17.  Membership campaign (the membership fee is still €25.00)