our call for proposals

The Foundation For Rare Disease supports excellent research to understand the causes and pathophysiological mechanisms of rare diseases, develop new treatments, and improve the life course of sick people.

The Foundation pursues an active scientific policy and launches 4 to 6 calls for proposals per year. It offers the winning research teams funding, access to innovative technologies such as new generation sequencing (exomes, whole genomes and new technologies of interest in this field), encourages the development of animal models and high throughput screening of molecules with therapeutic potential. Expertise on these new technologies is provided by specialized technological platforms.

Ongoing Call for proPOSALS

Association Syndrome PACS 1 – Schuurs-Hoeijmakers joint call for proposals 

The Foundation For Rare Diseases and the PACS1 – Schuurs-Hoeijmakers Syndrome Association are joining forces to launch a call for projects on PACS1 syndrome. It aims to support innovative biomedical research projects.

Budget: 50 000€.

Duration: 12 months. Exceptionally, projects lasting 24 months up to 100 000 € can be supported.

Deadline for submission: June 16, 2022, 5pm (Paris time)

« Human and Social Sciences & Rare Diseases » call for proposals 

The Foundation For Rare Diseases is launching the tenth call for projects « Human and Social Sciences & Rare Diseases » which aims to better understand the individual, family and social consequences specifically related to the rarity of the disease and to increase knowledge on the specific impact of these diseases in terms of disability and quality of life.

Through this call for projects, the Foundation For Rare Diseases will support pilot projects or extensions of projects, with a maximum duration of 6 to 18 months, for a maximum budget of 30 000 €. All rare diseases of children and adults are concerned. 

As part of the Foundation For Rare Diseases’s participation in the University Hospital Cure Overgrowth Syndromes Network (RHU COSY), 3 projects dealing with the problems of people affected by hypergrowth syndromes may be supported for a maximum duration of 12 months.

In addition, in partnership with the association Vaincre la Mucoviscidose, one to two projects in the field of social sciences and humanities may be financed, the results of which will contribute directly or indirectly to improving the care and life course of patients.

The projects will have to formulate a research question, whose benefits will be transposable to other pathologies, involving at least one research team in SHS, a medical team specialized in rare diseases and a patient association. Finally, the applicant must be an expert in the field of SHS.

The objective of this call for projects is to promote the implementation of synergies between researchers in the humanities and social sciences, experts in the medical management of rare diseases (Centres de Référence Maladies Rares, Centres de Compétences, Filières de Santé Maladies Rares), patient associations, and experts in social and medico-social support.

It thus encourages the transdisciplinarity of research projects in human and social sciences in the field of rare diseases and is open to all disciplines in human and social sciences.

Deadline for submission: June 1st, 2022 at 5pm.

For any questions, please contact us aap-bio@fondation-maladiesrares.com

Association Ichtyose France joint call for proposals 

Due to the specificities of rare diseases, the Fondation Maladies Rares (Foundation For Rare Diseases – FFRD) and the Association Ichtyose France (AIF) have agreed on a partnership to support and stimulate biomedical research on ichthyosis.

This call for projects aims to develop innovative research program to better understand Ichthyosis and develop new therapeutic approaches. All biomedical disciplines are eligible.

This call for research projects provides for financial support of up to 100,000 euros for a maximum duration of 24 month.

Deadline for submission: June 5, 2022 at 5pm

European call for proposals


2022 Joint Transnational Call for proposals



Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases

The Foundation For Rare Diseases, partner of the European Joint Programme for Rare Diseases EJPRD, is pleased to announce the launch of the 2022 Joint Transnational Call for proposals.

The main objective of this call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear future benefit for patients.

Research proposals should cover at least one of the following areas:

  • Phenotype-driven diagnosis: integration across different ontologies, integration of shared pathways, digital phenotyping, development of artificial intelligence approaches/applications to extract health related data in aid of diagnosis;
  • Prognostic markers/biomarkers investigations for early diagnosis and monitoring;
  • Methodologies for solving cases that are currently difficult to analyze due to different underlying mechanisms (e.g., mosaicism, genomic (non-coding) alterations, gene regulation, complex inheritance), including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches.
  • Functional strategies to globally stratify variants of unknown significance (VUS) for clinical use; setting up of (in vitro) systems to distinguish between VUS and pathogenic variants (e.g., confirming disruption of splicing for deep intronic variants, loss of protein function, and gain of toxic protein function);
  • Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.

Partners belonging to one of the following categories may request funding under a joint research proposal (according to country/regional regulations): academia (research teams working in universities, other higher education institutions or research institutes), clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organizations), enterprises (all sizes of private companies) when allowed by national/regional regulations, patient advocacy organizations.

The matchmaking tool will help you find your ideal project partner.

There will be a two-stage submission procedure for joint applications: pre-proposals (deadline : 16th February 2022) and full proposals (deadline : 15th June 2022). The maximum duration of the project is three years.

For any questions, please contact us aap-bio@fondation-maladiesrares.com

OUR Call for proposals AND AWARDS LAUNCHED in partnership


Vaincre la Mucoviscidose – Winner: Pr Pierre Lombrail, Paris, « Expérience Patient du Parcours Mucoviscidose pendant la pandémie de Covid-19 » 



Algodystrophie France – Winner: Julien NIZARD, UIC22 CHU de Nantes, « Toward a better consideration of patient’s feeling in CRPS : a study mixing quantitative and qualitative approaches to test and make recommendations regarding the use of a BPD assessment tool »



HPN France – Winners: Dr de Lima Prata, Hôpital Saint-Louis and Simona Pagliuca, Clinique Cleveland, « Immunogenomics of idiopathic bone marrow failure disorders: immune-escape mediated by class I/II HLA somatic mutations »

BBS France – Winner: Hélène DOLLFUS, UMR_S1112 Inserm-Université de Strasbourg, « Proof of concept of AAV gene replacement therapy for retinal degeneration occurring in 2 Bardet-Biedl Syndrome (BBS) mouse models (Bbs1 KI and Bbs10 KO) »

AMMi – Winner: Alessandro PRIGIONE,  Heinrich Heine University Duesseldorf, « Modeling Leigh syndrome caused by MTFMT mutations using patient- specific neuronal cells
PACS1 – Winner: Marc Bitoun,  UMR_S974 Inserm- Pitié-Salpêtrière Hospital, « Proof of concept of therapy by allele-specific silencing for the Schuurs-Hoeijmakers Syndrome »


In 2021, the APICIL Foundation is joining forces with the Foundation For Rare Diseases to reward an innovative project in the field of rare diseases and pain by offering a « Rare Diseases and Pain » research prize of €15,000.

This prize should allow a senior researcher, scientific leader of a team attached to a French research organization to carry out, pursue or complete a research project related to major advances in the field of rare diseases and pain.
This prize will be awarded by a committee of experts set up by the Foundation For Rare Diseases and upon final validation by the APICIL Foundation’s Scientific Council.


In 2020, Alnylam has joined forces with the Foundation For Rare Diseases to reward two innovative projects in the field of rare diseases with a grant of €20,000 each.

Each prize is awarded to an established researcher, scientific leader of a team attached to a French research organization, contributing through his or her research to major advances in the field of rare diseases.

The Alnylam  Phamaceuticals award has been renewed in 2022.

RHU-COSY - Cure overgrowth syndromes

The RHU COSY « Cure overgrowth Syndromes  » is led by the team of Pr Guillaume CANAUD (Inserm/Hôpital Necker Enfants Malades). This project is a winner of the ANR’s Call for University Hospital Research Projects in Health. This hospital-university research action aims to support translational health or clinical research projects, which may be based on fundamental research in biology, epidemiology, social sciences or health economics. The Foundation For Rare Diseases  is a partner of the RHU-COSY by participating in actions to improve the care of patients with hypergrowth syndromes with the launch of a dedicated SHS AAP on these diseases. It also coordinates the communication actions of this project.