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 the University of Paris 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, 15 core facilities and 25 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 more than 32 gene panels and clinical exomes allowing for more than 3,000 diseases to be clinically diagnosed,
  • Performed more than 25,000 DNA sequences,
  • Collected data from 680,000 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.

 

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 25 reference centers for rare diseases, 7 clinical departments at Necker-Enfants Malades hospital AP-HP and 2 clinical investigation centers.

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.
  • Identified 61 therapeutic solutions which are now in the pre-clinical or clinical stages:
  • Enrolled over 7,000 patients in more than 580 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 University of Paris, 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), including:

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:

  • 82 patents and software programs have been registered,
  • 307 contracts have been concluded with industrial partners,
  • 9 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 2018, there were over 580 clinical studies involving over 7,000 patients in progress at Imagine.

Key figures 2018
Key figures 2018 © Bruno Boudon