Understanding and treating genetic diseases

Imagine’s goal is to change the lives of families affected by genetic diseases. To achieve this goal, Imagine focuses on four major areas: research, innovative care, education, and promotion.

Imagine Institute

At Imagine, patients with genetic diseases are at the heart of the virtuous circle. Created by the Institute’s founders, this circle begins with the patient and finishes by curing the patient or at least relieving their suffering. Imagine brings together all the skills and expertise necessary to accelerate research, develop innovative care, and to generate synergies and conditions to drive innovation in one building.

Understanding the mechanisms of genetic diseases

To cure a genetic disease, the disease must first be identified, which happens in three key steps:

  • First, the gene(s) responsible must be identified, for which the patient cohorts have to be analyzed perfectly.
  • Then, the mutations must be characterized so that we can understand how they disrupt models of biological experimental systems in order to learn how to correct them.
  • This data must then be quickly translated into a diagnosis and clinical research begun.

These three steps are at the heart of the Imagine Institute’s research. To accelerate research, Imagine works with multi-disciplinary teams from Inserm and Université Paris Cité using a cross-sectoral, cross-disciplinary and translational approach.

This unique approach is a success factor for major scientific advances. Our team is united under the same roof: 1,000 researchers, engineers and technicians, 24 research teams, 4 partner labs at Necker-Enfants Malades hospital AP-HP, 18 core facilities and 31 reference centers for rare diseases have combined their talents in aid of one cause: fighting genetic diseases.

Since the Institute’s founding, doctors and researchers have:

  • 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 development for more than 3000 diseases
  • Performed more than 25,000 DNA sequences,
  • Collected data from 700,000 patients, 5.6 million documents and 50 million pieces of structured data in a translational research data warehouse on rare diseases in order to facilitate advances and discoveries relating to these pathologies.


Supporting the Imagine Institute means helping our researchers to identify new genetic diseases and participate in their treatment.

Je soutiens l'Institut Imagine

Inventing tomorrow’s treatments for genetic diseases

Imagine’s purpose is to cure genetic diseases. Numerous doctors and researchers within the Imagine Institute are working on new treatments, such as cell therapy, biomedicines or even gene therapy.

Our teams are also developing pre-natal and pre-implantation genetic diagnosis.

To successfully accomplish all these projects, Imagine relies on 31 affiliated reference centers for rare diseases, 8 affiliated clinical units and 2 clinical investigation centers at Necker-Enfants Malades hospital AP-HP.

Since its founding, Imagine has already:

  • Hosted more than 45,000 consultations per year in its reference centers for rare 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 pathologies: sickle-cell anemia, beta-thalassemia, interferonopathies, and many more.
  • Enrolled over 7,500 patients in more than 500 clinical trials


Soins en consultation
Soins en consultation © Laurent Attias

Sharing information through education and training

By educating PhD students in medicine and science who represent the talent of tomorrow and also providing continued professional development training for doctors and other health professionals, the Institute shares its discoveries and fosters versatility in its teams by encouraging them to develop both their medical and research skills.

This strong focus on education is shared with the Université Paris Cité, a founding member of Imagine, and the Bettencourt Schueller Foundation, which is very committed to the program.

Since its founding, Imagine has already trained more than 250 doctors and researchers (accredited doctors, PhD students, post docs), through its educational and training programs:

In partnership with leading Universities in business and engineering, Imagine also initiates multi-disciplinary education programs. Imagine Bioentrepreneurs program trains entrepreneurs and accelerates healthtech start-up projects that can have a strong impact for patients. These programs are aimed at students of different profiles: scientists, doctors, pharmacists, engineers and managers. They are innovative programs for training the bioentrepreneurs of tomorrow.

Sharing the results of our research

The Innovation and Technology Transfer department at Imagine works every day to apply medical advancements using innovative technologies to benefit patients and society as a whole. Sharing the results of our research means accelerating solutions’ progress from the lab to the patient’s bedside.

The department creates and maintains partnerships with companies in the industry allowing our discoveries to be translated into new diagnostic and therapeutic approaches which benefit not only patients with rare genetic diseases, but patients everywhere.

Since the founding of Imagine:

  • 57 active patent families and 12 operating licenses,
  • More than 300 contracts have been concluded with industrial partners,
  • 10 startups have been created.

The innovation and technology transfer department also offers doctors ways to develop their clinical research program, a key stage in the development of new diagnostic strategies and treatments. In 2020, there were over 500 clinical studies involving over 7,500 patients in progress at Imagine.

Chiffres clés Imagine 2019
Chiffres clés Imagine 2019 © Bruno Boudon