The European Joint Program for Rare Diseases: EJP-RD
1. The development of the EJP RD online course in the form of MOOCs
This working group federates 17 partner organizations and is coordinated by the Foundation For Rare Diseases. It coordinates the development of the first multidisciplinary and transversal online course on rare disease research.
The course is developed in the form of 5 MOOCs (Massive Open Online Course) whose topics have been the subject of selection, needs assessment and prioritization work in 2019. The different MOOCs, accessible free of charge, are developed in English to allow accessibility to an international audience. The main targets are students (medicine/research) and health professionals, but a wider public is likely to be interested.
The MOOCs are developed with European experts in the field, including representatives of the ERNs (European Reference Networks) and cover the following topics:
Innovative personalized therapies
Statistical methodologies of clinical trials
Data, ethics, regulatory
The first two sessions of the first MOOC on diagnosis were held in spring and fall 2021 and attracted 2993 participants from 118 countries (40% outside of Europe), with a variety of profiles (students, physicians, researchers, patients and patient representatives, etc.). More than 1,700 comments were generated by the learners.
Due to its impressive success, MOOC1 is now open all year round! MOOCs 2 and 3 should be available during the year 2022.
2. The implementation of a call for innovative projects on research challenges for rare diseases (WP8 - "Rare diseases Research Challenge")
This call, co-financed by the European Commission (70%) and industrial sponsors (30%), aims to finance collaborations between industrial partners, academics, SMEs and patient organizations.
Specific research challenges for rare diseases had been identified in 2019:
Development of a non-invasive tool to measure the mobility of rare disease patients in daily life" (industrial sponsors: Chiesi and CSL Behring)
Characterization of mobility challenges related to rare bone disorders in a real world environment" (industrial sponsor: Ipsen)
Development of a system for intranasal administration of biological drugs to newborns" (industrial sponsor: Chiesi)
Development of a preclinical test to detect instability of microsatellite repeat expansions" (industrial sponsors: Cydan and Pfizer)
3. Co-financing of research projects selected in the framework of the transnational calls for projects of the EJP RD.
In 2019, the Foundation For Rare Diseases participated in the co-funding of four research projects selected in the transnational call for projects of the EJP RD. This call for projects focused on the following theme: "Research projects to accelerate diagnosis and/or explore the progression and mechanisms of rare diseases".
The Foundation For Rare Diseases contributes to the financing (in addition to that of the ANR) of four winning projects by allocating €20,000 to each research team:
Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials, Agnès RÖTIG, Paris
European network on Noonan syndrome and related disorders, Hélène CAVÉ, Paris and Armelle YART, Toulouse
Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models, Hélène DOLLFUS, Strasbourg
The European Ribosomopathy Consortium, Lydie Da Costa, Paris
In 2020, the Foundation participated in the funding of a research project selected in the framework of the EJP RD's 2020 transnational call for projects. The call focused on the following theme: "Preclinical research to develop effective therapies for rare diseases".
The Foundation is co-financing the FANEDIT project (Gene editing as a novel therapeutic strategy in Fanconi anemia) with 193 000€. This amount is fully reimbursed by the European Commission as co-financer 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 project will last 36 months and started on April 1, 2021.
4. Preparation of the 2021 Transnational Call for Projects
The Foundation was in charge of the scientific secretariat of the call for transnational 2021 projects on the following theme: "Research in Human and Social Sciences to improve the care and daily life of people with rare diseases".
The following topics are involved:
Research on health and social services to improve the daily lives of people with illnesses and their families
Economic, psychological and social impact of rare diseases
Studies of the burden of delay and diagnostic impasse and lack of treatment
E-Health: use of innovative technological systems in healthcare
Development and strengthening of research methods for health action evaluation
Effects of the Covid-19 pandemic, the response of rare disease actors in the emergence of innovative care pathways