The objectives and the activities of the association, the support of the Dino Ferrari Centre and of its Director Nereo Bresolin, the story of how Progetto Mitofusina 2 Onlus was born told by Eleonora Bartolini e Luisa Perrero Porzio.
- When and why Mitofusin 2 Project was born?
The association was born in 2012 with a clear focus on Charcot-Marie-Tooth type 2A disease (known as CMT2A as well). The goal was – President Eleonora Bartolini said– to support research to find a treatment for this rare disease.
The association has so far reached about 200 people suffering from this disease which has an incidence 1.2500. Charcot-Marie-Tooth types can be divided into two large groups very different from each other: type 1– demyelinating– and type 2–axonal.
Each type has many subtypes, whose number depends on the different genes involved which can in their turn several different mutations.
Regarding CMT2A, we know that the mutated gene is the Mitofusin 2 (MFN2), the one which codes the mitochondrial protein bearing the same name. This is a very rare form of the disease whose incidence is 1: 100.000. For instance, in relation to the their population, in Turin there might be 10 people suffering of CMT2A and in Italy they could be 600. In a family, The disease may appear for the first time in a family with a single case (so called “de novo” mutation) or, since it is a genetic disease, involving different families.
The association managed to get in touch with 40 patients suffering from CMT2A just in Italy, with 200 patients in all the world.
We have many goals:
- to support our research project which is being carried on by Prof Stefania Corti, Dr Federica Rizzo and a team of nine at the Dino Ferrari Centre where Professor Bresolin is President and Prof Comi is Vice President.
- to get in touch with new patients to make a large group interesting for researchers and pharmaceutical companies and able to support one each others. We started from 2 families with 4 patients and now we are 200.
- to disclose scientific information managed by our researchers through the website, blog and social network of our association read by over 5000 around the world.
- to involve as many people as possible through activities and fundraising events.
I believe that, Luisa Perrero Porzio (responsible for the website) said, when we get to tests on men we will be approached by much more people because many of them are now just reading our contents on the web without contacting us. There is still a great deal of resistance in many people to take their disease condition public and the reasons can be different: some might feel embarrassed by their disability, some might not accept the disease and do not want to talk about it, some suffering from a light form do not feel the need of looking for a diagnosis and a treatment, especially if they are getting old. We know through our website that people approaching us are mostly parents of young patients looking for information about CMT2A.
- Where are you present and how do you relate to other associations?
The association is involved in Tuscany (at Rignano sull’Arno where we have our headquarter), in Turin and in Rome, but our patients are located throughout Italy and abroad. We believe in networking with other associations. In Italy there are two other CMT associations, with which we are in close touch. They deal with subjects we do not like legislation, physiotherapy and other more generic arguments. In this matter, we refer to them while our association focuses on scientific research. In Piedmont we have created an Alliance of Rare Disease Association following a format already present in Tuscany.In Europe, together with the Italian ACMT-RETE and the English, Belgian, French and Dutch associations, we have created the European CMT Federation whose headquarter is in Bruxelles. The idea was to create an organization representing CMT in all Europe to facilitate access to European research grants and to support countries having not yet their own association. The point is that funds for research are fewer and fewer, so we, like private parties, have to work harder than ever. The situation is generally hard in all Europe, but especially in Italy: this is the reason why Professor Bresolin encouraged us to create the Mitofusin 2 Association.
- The strategic partnership between the association and the Dino Ferrari Centre
We are constantly supported by the association of the Dino Ferrari Centre. In the beginning, we have been helped by them to create our association and we have been collaborating since then. Dino Ferrari Centre is one of the few institutions that supports the research on CMT2A, so we are extremely satisfied with this collaboration. Both the association and the scientists are wonderful and well prepared. When our guys go to the centre for some tests, they feel like home.
- What are the activities your association makes to involve people?
The Mitofusin 2 Association carries the project and information related to the disease through various channels: events and shows, scientific conferences, website. The most important fundraising annual event is the “Pranzo del Sorriso”: we have been done it for 12 years. It is a parties day and a way of making science accessible to general public. The event takes place at Rignano sull’Arno (Florence) and involves hundreds of people, including our Professors and researchers, and many voluntary organizations. The next will be on September, 8th.
Besides this events that in Tuscany is a fixed appointment, during the year other initiatives are developed, like for example the dinner with the local football team, Fiorentina, attended by 500 people.
In Piedmont, Turin, the fundraising events are more targeted because we are in a big town. We organize wheelchair dance performances with the association Giovanella is dancing in or information sessions about the disease with many organizations which usually support us, like Rotary or Rotaract Club. Many fundraising events are organized in Rome as well.
On our blog we manage with lots of topics relevant for our patients’ life, like inclusive art and sport, robotics and much more.
On our website www.progettomitofusina2.com we publish article and interview of athletes with disability because we believe sport could change the life of a person suffering from a kind of disability by giving him a goal in his life.
- Is there communication between science and families?
Between us and researchers there is a lot of communication and exchange: they constantly inform us on advances on research. We think we are at a turning point and so we are very happy. Researchers told us this kind of disease is very complicated since in CMT2A the protein Mitofusin 2 is not completely absent (like in other pathologies like SMA for instance); it is produced, but with a mutation which makes it works in a wrong way. So the decision to silence the mutated gene and inject a healthy one, taking care not to silence this latter too. So far the experiment has been made on a mouse model: it worked, but needs to be made more effective. We know we need more time, but we have reached an important point: the model of gene therapy on fibers works, now it needs to be tested further.
Professor Bresolin told us that the very new gene therapy on SMARD1 has been a decisive attack to the disease because it works! One single administration makes kids walking! Our research project is on the same path. We think a great work has been done, especially given where we were only 6 years ago…research is making big steps! In Italy Dino Ferrari Centre is the only one which is dealing with this project; something is being made in the Usa but we are doing a bit better. Our project will be presented by our researchers at a very authoritative Conference in the field of neurology in the Usa and that makes the sense of this important discover.
- What does Professor Bresolin and Dino Ferrari Centre mean for you?
When we first met him, he told us that there was not treatment for CMT2A, at least until then. But he added that the disease was treatable and we needed indeed further our efforts to ensure that research will find the right therapy. Since then our life changed! From then, we are dedicating all our physical and mental efforts to that goal. Our guys are growing up and we must find a treatment very soon. Professor Bresolin has been (and still is) very important for our association and we are very glad to meet him. A man of great professionalism and kindness. He is in charge of Dino Ferrari Centre and Medea Bosisio Parini Institute, two centers of excellence in Italy.