Our results

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 "nonsense" mutation, which is a very serious form of mutation. It leads to a premature stop in the synthesis of proteins - which are essential for the function of the gene - that malfunction and can no longer fulfill their role in the body. This genetic anomaly leads to the appearance of the clinical symptoms of the disease.

The advantage of this mutation is that the gene is still present in the patient's cells but is no longer expressed. We have obtained a very effective molecule at present that allows the gene to be re-expressed and enables us to reach a level of correction of the mutation that is compatible with a therapeutic benefit. This discovery is a source of hope, a major step forward for research, reinforced by the very low or even zero toxicity of the molecule.

This data is crucial when it comes to developing a treatment. Now we still have some steps to go through before we can come up with a real therapeutic strategy and propose a drug.

Rare Neurodegenerative Disease

The research team led by Dr. Pascale Bomont revealed that the mutated protein in the patient, gigaxonin, plays a key role in understanding the disorders in NAG patients and developing targeted therapies.

"My interest in rare diseases. During my career, I have participated in the study of about ten rare neurological diseases but I specialized very early on, as soon as I wrote my thesis, in Giant Axon Neuropathy (GAN) which is a severe neurodegenerative disease beginning in young children, and which causes a loss of mobility, sensitivity, and then causes severe "damage" to the brain. After identifying the NAG gene, I could have continued my career in human genetics and identified the genes of other diseases, that was the line I was advised to take. I preferred the difficult path and I am extremely happy to have stuck to the understanding of this rare disease, and to have dedicated twenty years of research to it.

My goal is to dissect the pathological mechanisms of rare neurodegenerative diseases. The Foundation For Rare Diseases has supported me by funding three projects on NAG within my team. The last one has not yet started. The first two projects involve the development of a new mouse model and a therapy project on another model, the zebrafish.

Today, we have revealed that the mutated protein in the patient, gigaxonin, plays an essential role in the recycling of cellular components and the birth and 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.

Few funds are dedicated to rare diseases. The AFM-Telethon and the Foundation For Rare Diseases have an essential role to play in enabling teams such as ours to initiate and conduct original projects, and to accelerate discoveries up to the stage of therapy.

My motivation comes from the patients. Knowing that I can help families understand the disease, find a treatment, or alleviate a pain is a phenomenal motivation."

"Researchers don't always know where to turn to develop their research project as quickly and efficiently as possible. The Foundation plays a key role with a team spread throughout France, close to the researchers to help them directly find the right partners and go as far as treating patients.
In its five years of existence, the Foundation has proven its effectiveness in terms of supporting research, research teams, project development and links between the various players. Thanks to this, it has acquired a good visibility, in particular with regard to its institutional and industrial partners. Today, its prospects for development are significant.

"My links with the Foundation are multiple and I have been able to appreciate the efficiency and professionalism of the Rare Disease Foundation on different occasions. In 2013, one of our research projects on autoimmune diseases (a nationally evaluated project on the consequences of a rare disease, systemic scleroderma, on patients' workplaces) was selected and received funding from the Foundation.

The support was not only budgetary, the Foundation helped us to build this project with logistical, technical and relational assistance. Today, the first phase of this project is completed, a thesis is done, an article is written and submitted for publication and an awareness campaign for occupational physicians has begun."

"I am particularly interested in the impact of the announcement of the diagnosis of a genetic disease on the subjects 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 subject. There was a major gap before because the calls for research projects were mainly concerned with biomedical research.

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

In rare diseases, 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 For Rare Diseases contributes to this.

Prader Willi Syndrome

Rare genetic disease, characterized by severe hypotonia (head holding, sitting, walking), absence of sucking reflex, feeding difficulties during the neonatal period and the first two years of life. Learning difficulties and behavioral problems.

Prevalence: 1 birth / 20,000

Support from the Foundation For Rare Diseases: from research funding to the AMM application

• Demonstration of the first beneficial effects of oxytocin in mice
• Confirmation in phase I/II clinical trials (adults, neonates)
• Orphan drug" designation obtained
• Phase III study in newborns underway (February 2020)
• Application for marketing authorization (MA) for an OCT-based treatment
• An SHS study to assess the impact of cognitive, executive and emotional abilities in the socialization process of patients.

Tubular aggregate myopathy

"I work 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's a multi-system disease because it affects several tissues.

The Foundation For Rare Diseases helps me and supports two complementary research projects. The first project aimed to understand the development of the disease in a mouse model in order to identify therapeutic targets. Interesting and promising results were obtained and this project is currently being finalized. For the second project, currently underway, we are screening molecules in a cellular model of the disease, and the molecules that show a positive effect can then be validated in our mouse model to pave the way for therapies for humans."

"The Foundation For Rare Diseases initially helped me by funding one of my high-throughput screening projects to identify molecules of therapeutic interest for diseases associated with iron overload. As my research program was risky, the Foundation's help was vital to fund my work.

Today, the Foundation For Rare Diseases is supporting me in the development of this project: it is following me, advising me and it has also put me in touch with industrial partners who can help me to continue my work. This support is important because it saves me a lot of time in areas that I don't know, where I am not an expert. It is a precious help.