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:

IRDiRC, International Rare Diseases Research Consortium 

IRDiRC brings together national governmental and non-profit funding bodies, companies, umbrella patient organisations and researchers worldwide to promote international collaboration for the advancement of rare disease research. Fondazione Telethon has been a Consortium Member since 2011. Lucia Monaco, Head of the Research Impact and Strategic Analysis at Fondazione Telethon, is the elected Chair of the IRDiRC Consortium Assembly (term: 1 January 1 2019 – 31 December 31 2021). 

ICPerMed, International Consortium for Personalised Medicine 

ICPerMed works to support the personalised medicine science base through a coordinated approach to research among international funding bodies. Its goals are to support research to investigate the benefits of personalised medicine to citizens and healthcare systems. Fondazione Telethon is an Executive Committee Member since 2018. 

ENMC, European Neuromuscular Center (dal 1992) 

The mission of ENMC is to facilitate communication and collaboration in the field of neuromuscular research with the aim of improving diagnosis and prognosis, finding effective treatments and optimizing standards of care to improve the quality of life of people affected by neuromuscular disorders. Fondazione Telethon has been a member since its creation in 1992.

TREAT-NMD Alliance

Global Database Oversight Committee (TGDOC) Anna Ambrosini is Chair-Elect for the TGDOC. 

ARM, Alliance for Regenerative Medicine 

ARM is an international community of companies, non-profit research institutions, patient organizations, and other stakeholders dedicated to realizing the promise of regenerative medicine. Fondazione Telethon has been a member since 2015. 


Member of EURORDIS Rare-IMPACT working group on ATMP Market Access (since 2018). Maximizing patient access to effective gene and cells therapies is a part of the RARE IMPACT initiative's mission. 

RD Connect

RD-Connect Community is an international association of individuals and organizations sharing the vision of building an open community that works to improve rare disease research. The Community’s mission is to promote, facilitate and accelerate rare disease research by maximizing the availability and (re)use of data and biosamples through provision of infrastructure, tools and services. The Community is the continuation of the EC funded RD-Connect Project (2012 - 2018), in which Fondazione Telethon led the workpackage on improving access to rare disease biological samples. Fondazione Telethon is a Member of the RD-Connect Community Executive Committee (since 2018). 


EuroBioBank network is the first and only operating network of biobanks in Europe providing human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases. Fondazione Telethon provided administrative support and coordination to EuroBioBank between 2012 – 2018, and continues to be instrumental in advocating for rare disease biobanks in Europe. Fondazione Telethon is a current member of the EuroBioBank Operational Committee. 

Undiagnosed Diseases Network International

Undiagnosed Diseases Network International (UDNI) involves centers with internationally recognized expertise, and its scientific resources and know-how that are involved in programs aimed at finding answers to families and their patients affected to unknown diseases.  


AriSLA, the Italian Research Foundation for Amyotrophic Lateral Sclerosis (ALS) is one of the leading non-profit organizations in Italy and Europe, whose institutional purpose is to to support excellent scientific research in Italy with the aim of defeating this very serious disease, whose causes are still unknown and for which there is currently no cure. To reach this goal, the Foundation is working together with the Italian scientific community, playing the role of catalyst and driving force, and providing economical, scientific and technical support. 

Other projects


RARE2030 is a foresight study that gathers the inputs of a large group of patients, researchers, practitioners and key opinion leaders to propose policy recommendations that will lead to a better future for people living with a rare disease in Europe. As a Rare2030 partner, Fondazione Telethon is devoted to outputs and outcomes evaluation.  


Restore is a preparatory action funded by the European Commission whose objective is to set-up a large-scale research initiative in the field of Advanced Therapy Medicinal Products. This large-scale research initiative should be funded within the next European research framework program – Horizon Europe. The definition of the10 years strategic research agenda for the large-scale initiative is done in collaboration with a large community of stakeholders organized in 16 working groups on different topics, ranging from basic science to manufacturing and up to clinical challenges. Fondazione Telethon researchers lead 4 of this WGs and co-lead an additional 2.  

EJPRD, European Joint Programme on Rare Diseases 

EJPRD is a European Commission-funded project (grant agreement No 825575, 2019 – 2023) with the goal “to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation”. Fondazione Telethon is a partner in this programme, contributing to multiple pillars of activities including prioritisation schemes, creation of virtual platform of rare disease data and resources, capacity building in relation to biobanks and undiagnosed diseases, and research translation and innovation.     


"Solve-RD - solving the unsolved rare diseases" is a research project funded by the European Commission for five years (2018-2022). It echoes the ambitious goals set out by the International Rare Diseases Research Consortium (IRDiRC) to deliver diagnostic tests for most rare diseases by 2020. Through the Telethon Undiagnosed Diseases Program, Tigem institute is collaborator of the Solve-RD.


A H2020 project as a part of ICPerMed family of initiatives working towards supporting communication and exchange on Personalised Medicine for aligning national agendas on research and funding activities. In particular the project aims to support EU-China collaboration over the developments of Personalised Medicine research, innovations and policies through the ICPerMed, providing people with access to personalised, smart and inclusive healthcare solutions in the near future.

European Expert Group on Orphan Drug Incentives

The European Expert Group on Orphan Drug Incentives is the interdisciplinary working group created in 2020 to study how European policies on incentives for orphan drugs can be modified to meet current needs and challenges for the benefit of patients.

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