An Institute that fights genetic diseases

Since the Imagine Foundation was established in 2007, the Institute has already implemented numerous projects and made many advances for patients with these mostly orphan diseases, i.e with no targeted treatment. Today, Imagine is focused on its ambition to change the lives of families affected by genetic diseases, and to this end, has set new goals that will guide the coming years.


Genetic diseases: rare and orphan diseases

Taken separately, genetic diseases are very rare, even exceptional, but throughout Europe, they affect 35 million people. In France, 3 million French people are affected, that is nearly one in 20. Added to this public health issue is the fact that nearly 50% of these diseases are undiagnosed, and when they are, it is often after months, even years of diagnostic uncertainty.

Indeed, in the 5 years since its founding, Imagine has proved its unique abilities to accelerate innovation both in terms of diagnosis and treatment. The synergy created from having doctors’ and researchers’ expertise in one place inspires our teams to never give up, to boost promising collaborations, and to innovate without stopping to conquer genetic diseases.

Today, Imagine has all the means to change the situation by 2028 and diagnose 80% of children with genetic diseases, but also to give 30% of them access to a treatment.

Imagine, the European leader in care and research on genetic diseases

Imagine’s strength is bringing research teams, reference centers and clinical departments together around patients with genetic diseases to provide them with better care within a building that hosts 30,000 consultations every year. Since its founding, Imagine has already:

  • Identified more than 250 genes, improving both diagnostic capabilities and the lives of many families
  • Developed 400 therapeutic and diagnostic solutions in preclinical or clinical phase for more than 3000 diseases
  • Completed the first global treatments for several pathologies, which are either entirely new treatments or treatments created by repositioning molecules that are already used in other diseases: immunodeficiencies, achondroplasia, sickle-cell anemia, beta-thalassemia, interferonopathies, and many more,
  • Collected 50 million pieces of data concerning 680,000 patients, from 5.6 million documents, and structured in a translational research data warehouse on rare diseases in order to facilitate advances and discoveries relating to these pathologies,
  • Performed more than 25,000 ADN sequences,
  • Enrolled over 7500 patients in more than 500 clinical trials.

One ambition: change the lives of families affected by genetic diseases

After much success, Imagine wants to step up its initiatives because there is still a lot to do to identify all diseases, understand them, and look after all the children. Researchers and doctors at Imagine therefore continue their efforts and have set objectives to meet by 2028, in the context of their new roadmap, to:

  • Bridging the diagnostic gap, thereby significantly reducing diagnostic uncertainty, in order to diagnose 80% of the children affected by a genetic disease 
  • Double the avenues and research projects on disease mechanisms by recruiting new teams with new expertise,
  • Double the number of clinical trials within the reference centers for rare diseases,
  • Double the number of therapeutic solutions that could be offered to young patients,
  • Increase approaches per group of diseases, particularly with artificial intelligence, by targeting mechanisms that are common to each of them,
  • Continue to enhance the Institute’s exceptional cohorts,
  • Extend resources and the return on investment by increasing funds from industry partners and public generosity.
  • Develop bioinformatics, genomics and data processing programs
  • Continue to open up the Institute and increase its scientific resources
  • Develop the Institute's societal role
  • Accelerate technological innovation and fundraising

Priority programs to accelerate discoveries

To accelerate innovation in aid of patients, Imagine has identified priority fields for the next few years. To successfully conduct its ambitious projects, Imagine knows that it can count on the support of its founding members, on the strengths of synergies between researchers and doctors, and on the advantage of being on campus at Necker-Enfants malades hospital AP-HP.


The immune system protects the body against attacks from bacteria, viruses or your own potentially harmful cells. Its implementation is complex and involves many cellular components. This system can fail because of a genetic defect. This is known as an immunodeficiency. It results in repeated or severe infections, which can sometimes be life-threatening or damage certain organs. These diseases affect about one child in 5,000, i.e. several hundred births each year; several thousand people live with such a disease in France.

Some people are characterized as being carriers of a specific predisposition to infectious diseases, either to a single type of pathogen or a single family of microorganisms. Genetic variations therefore determine the susceptibility or resistance to infectious diseases.


When a genetic defect is present in one of the many cell lines making up the blood, it can lead to a blood disorder, or hemopathy. Depending on the cell concerned - white blood cells, red blood cells, platelets - these pathologies can take very varied forms: more or less severe anemias, mastocytosis (rare disease related to the proliferation of some white blood cells), hemophilia, etc.

In particular, Imagine researchers study the genetic defects of hemoglobin in two forms of severe anemia: sickle-cell anemia, the genetic disease with the highest incidence, or thalassemias.


More than 150 kidney diseases are associated with the presence of a genetic alteration. For most, these patients slowly develop chronic kidney failure and go into a kidney transplant program in the shorter or longer term. Necker-Enfants malades hospital is considered as a pioneer in the treatment of renal pathologies. In 1952, Jean Hamburger performed the first kidney transplant there and later, he designed the first artificial kidney in France. Since, medical and scientific advances have increased in nephrology, which is still one of the main specializations of the Necker campus.

Trying to find the genetic origin of their disease helps to both propose a diagnosis, but also to try to understand the mechanisms leading to a mutation in a gene on occurrence of the clinical expression of the disease (genetic nephrotic syndrome in this case). It is one of the objectives that researchers at Imagine Institute focus on.

Neurological and neurodevelopmental disorders

Neurodevelopmental disorders group together many different pathologies. They cover severe neurological, neuromuscular and neurosensory disorders, and psychiatric disorders. They occur from childhood with progression of cognitive and neurological deficits and affect nearly 3% of children. However, they count for 10% of healthcare expenses in western countries. Only some of these diseases have a specific treatment. In particular, Imagine researchers study autism spectrum disorders, intellectual disabilities, epilepsies and metabolic disorders.

Development and Cardiology

This is a very broad field, which covers a wide range of pathologies that occur during embryonic development. Developmental abnormalities and genetic malformations can affect many organs and take varied clinical forms. They may be bone diseases, dwarfism, ophthalmological conditions, heart defects or skin diseases such as severe forms of psoriasis, epidermolysis and many other pathologies.

Develop tomorrow’s medicine through data science and computer-aided decisions

This newly created program combines the strengths and expertise needed to deploy tomorrow’s medicine. Thanks to the development of bioinformatics tools and artificial intelligence, its objective is to draw attention to clinical and biological data, explore the fields that are still unknown, such as non-coding DNA regions, analyze pathologies on the level of a single cell to better understand them, and therefore, offer a tailored treatment that can evolve over time.