The Foundation For Rares Diseases plays an active role in research and health policy in the field of rare diseases, both nationally and internationally.
A unique global infrastructure project that links databases, registries, biobanks and clinical bioinformatics data used in 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.
Since 2019, the Foundation For Rares Diseases has mainly been involved in four activities:
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.
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:
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:
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.
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 ».
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: