support international research

The Foundation For Rares Diseases plays an active role in research and health policy in the field of rare diseases, both nationally and internationally.

RD-Connect CONSORTIUM Partner

A unique global infrastructure project that links databases, registries, biobanks and clinical bioinformatics data used in rare disease research.

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Member of the Executive Committee of the International Consortium for Rare Disease Research

This IRDiRC consortium brings together national and international governmental and non-profit funding agencies, companies (including pharmaceutical and biotechnology companies), patient advocacy organizations, and research scientists to promote international collaboration and advance rare disease research worldwide.

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THE EUROPEAN JOINT PROGRAM FOR RARE DISEASES - EJP-RD

The Foundation For Rare Diseases is a major partner of the EJP RD, a European program for coordinating resources for research into rare diseases field.

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Since 2019, the Foundation For Rares Diseases has mainly been involved in four activities:

1- DEVELOPMENT OF THE EJP RD ONLINE COURSE - MOOC

This working group brings together 17 partner organizations and is coordinated by the Foundation For Rare Diseases. We are coordinating the development of the first multidisciplinary and transversal online course on research in rare diseases.

The course is developed by creating 5 MOOC (Massive Open Online Course).

Accessible for free the MOOC are developed in English to allow accessibility to an international audience. The main targets are students (medicine/research) and healthcare professionals, but a wider audience is likely to be interested. MOOC are developed with European experts, in particular representatives of ERNs (European Reference Networks) and focus on the following topics:

° MOOC#1 : Diagnostic
° MOOC#2 : Innovative personalized therapies
° MOOC#3 : Translational research
° MOOC#4 : Statistical Methodologies of Clinical Trials
° MOOC#5 : Data, ethics, regulatory

The first session of the first MOOC on diagnostics was held in spring 2021 and attracted 1,798 participants from 118 countries (40% outside Europe), with various profiles (students, doctors, researchers, patients and patient representatives, etc.) . More than 1,700 comments were generated by learners.

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2- IMPLEMENTATION OF A CALL FOR INNOVATIVE PROJECTS ON RESEARCH CHALLENGES FOR RARE DISEASES

Co-funded by the European Commission (70%) and industrial sponsors (30%), this call aims at funding collaborations between industrial partners, academics, SMEs and patient organisations.

Research challenges to rare diseases fiels were identified in 2019:

  • Development of a non-invasive tool to measure the mobility of patients with rare diseases in daily life (industrial sponsors: Chiesi and CSL Behring)
  • Mobility challenges related to rare bone disorders in a real environment (industrial sponsor: Ipsen)
  • Development of a system for the intranasal administration of biological drugs to newborns (industrial sponsor: Chiesi)
  • Development of a preclinical test to detect the instability of repeated expansions of microsatellites (industrial sponsors: Cydan and Pfizer)

3. CO-FINANCING OF RESEARCH PROJECTS SELECTED IN THE FRAMEWORK OF EJP RD TRANSNATIONAL CALLS FOR PROposals

In 2019, the Foundation For Rare Diseases participated in the co-financing of 4 research projects selected as part of the EJP RD’s transnational call for proposals. This call for projects focused on the following topic: “Research projects to accelerate diagnosis and/or explore the progression and mechanisms of rare diseases”. The Foundation For Rare Diseases contributes to the funding (in addition to that of the ANR – French National Research Agency) of 4 winning projects by allocating 20,000€ to each team:

  • GENOMIT, Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials, Agnès RÖTIG, Paris
  • NSEuroNet, European network on Noonan syndrome and related disorders, Hélène CAVÉ, Paris et Armelle YART, Toulouse
  • Solve-RET, Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models, Hélène DOLLFUS, Strasbourg
  • RiboEurope, The European Ribosomopathy Consortium, Lydie Da Costa, Paris

More on the project funded in 2019

In 2020, the Foundation For Rare Diseases participated to the financing of a research project selected as part of the EJP RD’s 2020 call for transnational projects. The call focused on the following topic: « Preclinical research to develop effective therapies against rare diseases ».
The Foundation For Rare Diseases co-finances the FANEDIT project (Gene editing as a novel therapeutic strategy in Fanconi anemia) with a total of 193,000€. This amount was fully reimbursed by the European Commission as co-financier of the call for projects.

The beneficiary is the coordinator of FANEDIT, Dr. Paula RIO (Health Research Institute of the Jiménez Díaz Foundation, Madrid).

The 36-month project started on April 1, 2021.

More on the 2020 call for proposals

In 2022, the Foundation For Rare Diseases participated to the financing of a research project selected as part of the EJP RD’s 2022 call for transnational projects. The call focused on the following topic: « Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases ».

More on the 2022 call for proposal

4. PREPARATION OF THE CALL FOR TRANSNATIONAL PROJECTS

In 2021, the Foundation For Rares Diseases provided the scientific secretariat for the transnational call for projects on the following topic: « Research in the Human and Social Sciences to improve the care pathway and daily life of people with rare diseases ».

The following subjects were concerned:

  • Research on health and social services to improve the daily life of disabled people and their families
  • Economic impact of rare diseases
  • Psychological and social impact of rare diseases
  • Studies on the burden of delay and diagnostic impasse and the absence of treatment
  • e-Health: use of innovative technological systems in care field
  • Development and strengthening of research methods relating to the evaluation of health action
  • Effects of the Covid-19 worldwide pandemic, the response of rare disease actors in the emergence of innovative care pathways