Network of international collaborations

We pursue cooperative strategies to combine our resources and capabilities with those of others international bodies, in order to raise awareness on rare genetic disease problem and importance of funding quality research.

We have joined international projects:

The International Rare Diseases Research Consortium brings together
governmental and nonprofit funding bodies, companies, patient organizations and researchers, to promote international collaboration and the advancement
of rare disease research. Fondazione Telethon has been a member since 2011 and chaired its Assembly during the three-year period 2019-2021. Scientists and experts from the Foundation also serve on some of the committees and
scientific working groups of the Consortium.

ICPerMed is an international consortium that has since 2016 promotes collaboration among entities that fund research in the field of personalized medicine. Fondazione Telethon is among the 50 international partners of the
consortium along with several public institutions and nonprofit organizations, including the European Commission. ICPerMed aims to contribute to the introduction of personalized medicine in health care systems to protect
the health of citizens. Each year, at an international conference, the consortium awards recognition to best practices in this area.

Since 1992, the European Neuromuscular Center has been working to facilitate communication and collaboration in the field of neuromuscular research. The initiative is aimed to improve diagnosis and prognosis, find effective treatments,
optimize standards of care and thus support the quality of patients' lives. Telethon Foundation has been a member of ENMC since its inception. In 2020 ENMC
published a white paper on the involvement of patients and associations in the decision-making processes of treatment and research. Then in 2021 it launched a program to support the professional development of young researchers and clinicians.

Fondazione telethon has been a member since 2009 of Europe Pubmed Central, a platform that collects and makes available all worldwide publications related
life sciences. Here the Foundation deposits also the main information related to the projects funded from which Telethon researchers' publications originate.

The international Treat-NMD network has among its activities. The coordination of a network of national registries on neuromuscular diseases that share anonymized patient data for research and feasibility studies both academic and by industry. This
activity is managed through the assurance committee of registries affiliated with Treat-NMD (TGDOC). Anna Ambrosini, Program manager Neuromuscular area, Directorate Research and Development of Fondazione Telethon, in 2020
has assumed the role of TGDOC chair.

The Alliance for Regenerative Medicine is a community international group of companies, nonprofit research institutes, patient organizations and other interested parties in the field of regenerative medicine. Fondazione Telethon has been part of the alliance since 2015 and has contributed to the issuance of official documents on development, registration and access to advanced therapies for orphan drugs. Fondazion Telethon, in particular, has followed the issue of cross-border access, that is, the policies that regulate the ability of patients to access treatments available outside their own country.

Fondazione Telethon has been a member of RARE IMPACT, a consortium
led by Eurordis, since its establishment. The consortium brings together manufacturers of gene and cells and confederated organizations in the pharmaceutical field. The goal is to promote access to therapies gene and cell therapies for people with rare diseases in Europe. In 2021, RARE IMPACT completed phase 2, which involved collecting additional information and
recommendations from all stakeholders involved.

The Undiagnosed Diseases Network International (UDNI) involves centers with recognized expertise at the international level. This collaborative network dedicates resources scientific and know-how to supporting programs that arise to provide answers to patients with diseases without diagnosis and their families.

The multidisciplinary group, founded in 2020, brings together experts and representatives from the disease community rare diseases community who have been working together on recommendations for the revision of European policies on drug orphan drugs. In 2021, these recommendations were published by the journal Frontiers in Pharmacology in an article summarizing the main challenges in the pathway of development of orphan drugs and proposes innovative solutions
to overcome them. The collaboration continues in 2022 with a phase 2.

The pilot project, funded by the European Union from 2019 to 2021, was coordinated by Eurordis and involved the Fondazione Telethon's participation. It led to the development of recommendations to define a new European policy framework on rare diseases. Hence the #30millionreasons for European action on
rare diseases that, with more than 2,000 testimonies from across Europe, has prompted the European Commission to define a new action plan for rare diseases.

The European Joint Programme for Rare Diseases is a project funded by the European Commission to create a global and sustainable ecosystem that enables
a virtuous circle between research, treatment and innovation medicine. Since 2019, Fondazone Telethon has been involved in training in biobanks and leads the l activities for translational research aimed at mapping the needs of researchers
in terms of data and tools.

It is a research project funded by the European Commission (2018-2022) that takes up the ambitious goals set by the International Rare Diseases Research Consortium
(IRDiRC), aimed at providing diagnostic tests for the majority of rare diseases by 2020. Tigem is collaborating on the project through the Telethon Undiagnosed Diseases Programme.

The project is part of the Horizon2020 Program of the European Commission and is part of the initiatives of the ICPerMed consortium aimed at fostering communication and exchanges on personalized medicine, so as to align agendas and funding initiatives between countries. Specifically, the IC2PerMed project supports collaboration between Europe and China in the development of research,
innovation and policies for personalized medicine. The goal is to promote access to treatment solutions that are that are personalized, smart and inclusive.