Integrated care and research programs

Imagine’s strength is bringing research teams, reference centers for rare diseases and clinical departments together around patients with genetic diseases to provide them with better care. To accelerate innovation in aid of patients, Imagine has identified priority fields for the next few years.

Research Acceleration

A virtuous circle to accelerate research and care

By grouping together researchers, doctors and patients for consultations in the same building at Hôpital Necker-Enfants malades AP-HP, Imagine Institute unites all these players and creates favorable conditions to go even further and faster in this “circle” approach: clinical observation, analysis and understanding of the causes and mechanisms of the disease, which encourages the discovery of new diagnostics, new treatments and their implementation.

Pioneer in Europe, Imagine is the only center in the world to offer this integrated “doctor-researcher-patient” organization, dedicated to genetic diseases.

Another asset of Imagine is uniting research teams, mostly from Inserm/Université Paris Cité, who explore all aspects of genetic diseases, relying on different skills and expertise. The aim is to create synergies, and share knowledge and equipment.

iCARPs: integrated care and research programs

Today, Imagine brings together 24 research teams, 4 partner labs, 18 core facilities, 31 affiliated reference centers for rare diseases (in Necker-Enfants malades, Cochin and HEGP AP-HP hospitals), and the support of clinical departments at Necker-Enfants malades hospital AP-HP. Imagine organizes them around 6 priority fields, iCARPs (Integrated Care and Research Programs).


The immune system protects the body against attacks from bacteria, viruses or your own potentially harmful cells. Its complex deployment involves many cellular components. Due to a genetic error, this system can be defective and at the root of an immunodeficiency. The sick child suffers from repeated or severe infections, which can damage certain organs and sometimes even be life-threatening. About one child in 5,000 - i.e. several hundred births each year - is born with an immunodeficiency and several thousand people live with such a disease in France.

Some people are 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.

Our commitments

  • Develop cohorts,
  • Continue with the genetic characterization of diseases and discover new diagnostic tools, 
  • Launch clinical trials.


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

Our commitments

  • Develop gene and cell therapy for several hematologic diseases,
  • Extend the possibilities of gene therapy, particularly for the treatment of T cell defects,
  • Develop Car-T cell therapy


There are more than 150 kidney diseases due to the presence of a genetic alteration. Most patients will develop chronic kidney failure, and eventually, they will have to have a kidney transplant. 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).

Our commitments

  • Develop diagnostic and therapeutic tools by integrating genomics, transcriptomics, epigenomics and metabolomics data, and clinical data through artificial intelligence, in the context of the University Hospital Research (RHU) of the ANR “medicine of the future for ciliopathies with renal failure” (C’IL-LICO),

Neurological and neurodevelopmental disorders

Neurodevelopmental disorders group together many categories of diseases. They cover severe neurological, neurocognitive, 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.

Our commitments

  • Explore data obtained from the cohorts to improve patient evaluation, accelerate genetic studies, fuel research programs, establish the genotype-phenotype links, and identify groups of homogeneous patients with a view to clinical trials with suitable therapies,
  • Integrate comprehensive analysis of DNA (and particularly non-coding parts) to discover the unknown genetic origin in 45% of neurodevelopmental disorders,
  • Launch a clinical trial on Friedreich ataxia and autism spectrum disorders to assess the impact of repeated transcranial magnetic stimulation on social skills.

Development and Cardiology

Congenital malformations and developmental disorders are a major public health issue, which affects 2 to 3% of births. They can have a genetic origin, even involving more complex mechanisms. The genetic origin is rarely known and very few treatments are available.

Our commitments

  • Identify new genes involved in developmental disorders present at birth,
  • Decipher the physiopathological mechanisms associated with congenital defects in several organs in children,
  • Develop 3D imaging to facilitate surgery in children and fetuses,
  • Recruit a new specialist research team in development, if possible with an extensive clinical experience,
  • Develop new treatments for orphan diseases by targeting physiopathological defects,
  • Develop gene therapy, particularly for certain forms of dystrophic epidermolysis bullosa by using autologous skin grafts.

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.

Our commitments:

  • Continue to develop the data warehouse “Dr Warehouse”, in particular by adding “Omics”, environmental and sociological data to it,
  • Simplify the use of databases to accelerate discoveries. Give access to patients and their family and develop E-health tools,
  • Develop new methods of bioinformatics analysis to increase the potential for research and diagnosis.

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