GRANTED funding

The Foundation For Rare Diseases supports scientific progress by funding academic research projects and innovations in the fields of biology, chemistry and the human and social sciences.


The Foundation is launching 5 to 6 calls for proposals to support French research teams. Today, around 50 calls for projects launched on financing permit 417 projects for 12.3 million euros.


The Foundation participates in numerous calls for projects in partnership with other players in the field:

In order to carry out its actions and finance research projects, the Foundation For Rare Diseases needs financial support and strives to create close partnerships with the professional world and civil society.

Patrons and partners can decide to support the Foundation’s actions in general or to invest in specific projects. 

The Foundation currently works with mutual insurance companies and private companies such as the IRCEM Foundation, MGEFI, AG2R La Mondiale and others.


our award winners

The Foundation financially supports academic research teams. These researchers are located in laboratories throughout France.

Use the search engine to discover projects funded by the Foundation since 2012 sorted by disease and team. You can also search per year by opening the yearly files below.








The results and discoveries of the Foundation’s granted researchers are highlighted in more than 300 articles published in renowned international scientific journals.


Fabrice LEJEUNE PhD - Lille

Inserm researcher in the CANcer Heterogeneity, Plasticity and Resistance to Therapies laboratory (Inserm / CNRS / University of Lille / Institut Pasteur de Lille / CHU Lille)

awarded in 2013 by the Foundation for rare diseases


Severe Lung Disease

The research team led by Dr. Lejeune has shown that one of the active ingredients contained in the Lepista inversa mushroom has reparative properties that allow it to correct certain genetic mutations, known as « non-sense » mutations. The results are published in Nature Communications.

« I am working on a type of mutation called a ‘non-sense’ mutation which is a very serious form of mutation. It leads to the premature termination of the synthesis of proteins – essential for the function of the gene – which malfunction and can no longer fulfill their role in the body. This genetic defect leads to the onset of clinical symptoms of the disease. The advantage of this mutation is that the gene is still present in the patient’s cells but it is no longer expressed. We have now obtained a very effective molecule which allows this gene to be reexpressed and allows us to achieve a level of correction of the mutation which is compatible with a therapeutic benefit. This discovery is hopeful, it is a big step forward for research, reinforced by the very low or even absence of toxicity of the molecule. This data is essential when we want to develop a treatment. Now we still have steps to take before arriving at a real therapeutic strategy and being able to offer a drug. »

Pascale BOMONT, PhD - Lyon

INSERM researcher, winner of a 2019 Grant-ERC consolidator from the European Research Council

awarded in 2015 and 2019 by the Foundation for rare diseases


Rare Neurodegenerative Disease

The research team led by Dr Pascale Bomont showed that the mutated protein in the patient, gigaxonin, plays an essential role in understanding the disorders in Giant Axon Neuropathy patients but also impacts other rare and frequent diseases far beyond the nervous system.

« During my career, I participated in the study of 10 rare neurological pathologies but I specialized very early from my thesis, on Giant Axon Neuropathy (NAG). It is a severe neurodegenerative disease that begins in young children, and which causes loss of mobility and sensitivity and then severe damage in the brain. After identifying the NAG gene, I could have continued my journey in human genetics and identified genes for other diseases, that was the line I was advised to. Instead I preferred the difficult way and I am extremely happy to have clung to understanding this rare disease, and to have dedicated 20 years of research to it.

My goal is to dissect the pathological mechanisms of rare neurodegenerative diseases. The Foundation For Rare Diseases supported my team by funding 3 projects on NAG. The last one hasn’t started yet. For the first two, it is the development of a new mouse model and a therapy project on another model, the zebrafish.

Today, we have just shown that the mutated protein in the patient, gigaxonin, plays an essential role in the recycling of cellular components, the birth and the integrity of neurons. This knowledge is crucial for understanding disorders in NAG patients and developing targeted therapies, but also has an impact on other rare and common diseases, and well beyond the nervous system.

My motivation comes from the patients. Knowing that I can help families understanding the disease, find a cure, or alleviate pain is a tremendous motivation. » 

Nathalie CARTIER_LACAVE M.D PhD - Paris

Medical doctor and biologist, director of a research team within UMR1169, "genetic therapy team, Brain Institute


« Researchers do not always know where to ask to develop their research project as quickly and efficiently as possible. The Foundation plays a key role with a team spread over French territory, as close as possible to researchers to directly help them find the right partners and go as far as treating patients.

The Foundation, in 10 years of existence, has proven its effectiveness in terms of support to research, teams of researchers, project development and links between various actors in the field. Thanks to this, it has acquired good visibility, in particular vis-à-vis its institutional and industrial partners. Today, its development prospects are important. »

Eric HACHULLA PhD- Lille

Professor of internal medicine, Coordinator of the reference center for rare auto-immune and systemic diseases - CHRU de Lille, Coordinator of the health sector for rare auto-immune and auto-inflammatory diseases (FAI2R)

« My links with the Foundation are multiple and I have been able to appreciate the effectiveness and professionalism of the Foundation For Rare Diseases several times. In 2013, one of our research projects on autoimmune diseases (project evaluated at the national level the consequences of a rare disease called systemic scleroderma on the workstation of patients) was selected and received a funding from the Foundation.

The support was not only budgetary, the Foundation helped us build this project with logistical, technical and relational assistance. Today, the first phase of this project is completed, a thesis is completed, an article is published and an awareness campaign for occupational physicians has started. »

Marcela GARGIULO PhD - Paris
Clinical psychologist - Institute of Myology and Department of Genetics Hôpital Pitié - Salpêtrière - MCU-HDR Paris Descartes University

« I am particularly interested in the impact of the announcement of the diagnosis of a genetic disease on patients but also on the whole family. The Foundation For Rare Diseases has produced a real change in the field of human and social sciences by launching a call for projects on the topic. There was a major gap before because the calls for research projects mainly concerned biomedical research.

When it was created in 2012, the Foundation launched a call for projects in Social Sciences with the particularity of bringing together interdisciplinary teams and also involving one or more associations of patients affected by the disease.

In rare pathologies, it is essential to discover how transmission works, to identify the genes, to discover the mechanisms, but in the meantime, patients and families must be able to live with their disease. The  Foundation contributes to this!»

Johann BÖHM PhD - Strasbourg

Translational and Neurogenetic Medicine Department - IGBMC

AWARDED in 2014 and 2017 by the foundation for rare diseases

 AAP Screening 2014, AAP Murine model 2014, AAP SCREENING 2017


Tubular aggregate myopathy

« I am working on tubular aggregate myopathy, which is primarily a progressive muscle disease but many patients also show abnormalities of the eye, skin, and spleen, so it is a multisystem disease because it affects multiple tissues.

The Foundation For Rare Diseases supports two complementary research projects. The first project aimed at understanding the development of the disease in a mouse model in order to identify therapeutic targets. Interesting and promising results have been obtained, and this project is being finalized. For the second project, currently underway, we are screening molecules in a cell model of the disease, and molecules that show a positive effect can subsequently be validated on our murine model in order to pave the way for therapies for humans. »

Delphine MEYNARD PhD - Toulouse

Researcher Institute for Digestive Health Research INSERM
Team 4 / Marie-Paule Roth - Hélène Coppin / Genetics and regulation of iron metabolism CHU Purpan

AWARDED in 2013 and 2014 by the foundation for rare diseases 


« The Foundation For Rare Diseases helped me initially, funding one of my high throughput screening projects to identify molecules of therapeutic interest in diseases associated with iron overload. My research program being risky, the Foundation’s help was vital in funding my work.

Today, the Foundation For Rare Diseases is supporting me with the development of this project: it follows me, advises me and it has also put me in touch with industrial partners who can help me continue my work. This support is important because it saves me a lot of time in areas I do not know, where I am not an expert. It’s a great help. »