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

Soutenir l’institut Imagine, c’est aider nos chercheurs à identifier de nouvelles maladies génétiques et participer à leur traitement,

Je soutiens l'Institut Imagine

 Inventer les traitements de demain pour les maladies génétiques

La raison d’être d’Imagine est de guérir les maladies génétiques. De nombreux médecins et chercheurs travaillent au sein de l’Institut Imagine sur de nouveaux traitements comme la thérapie cellulaire, les « bio médicaments » ou encore la thérapie génique.

Les équipes développent également des diagnostics prénatals et préimplantatoires.

Pour mener à bien tous ces projets, Imagine s’appuie 25 centres de référence maladies rares, 7 services cliniques de l’Hôpital Necker-Enfants malades AP-HP et 2 centres d’investigation clinique.

Ainsi depuis sa création, Imagine a déjà :

  • Accueilli plus de 45 000 consultations/an au sein des centres de référence maladies rares,
  • Réalisé des 1ères mondiales thérapeutiques pour plusieurs pathologies, qu’il s’agisse de nouvelles thérapies ou de repositionnements de molécules déjà utilisées dans d’autres pathologies : drépanocytose, béta-thalassémie, interferonopathie…,
  • Identifié 61 solutions thérapeutiques désormais au stade pré-clinique ou clinique,
  • Inclus plus de 7 000 patients dans plus de 580 essais cliniques.

 

Soins en consultation
Soins en consultation © Laurent Attias

Transmettre par l'enseignement et la formation

À travers notamment la formation de jeunes talents, d’étudiants en thèse de médecine et de science, mais aussi à travers la formation continue des médecins et des personnels de santé, l’Institut partage ses découvertes et favorise au sein des équipes la double compétence médecine/recherche.

Cette mission d’enseignement est partagée de manière forte avec l’Université de Paris, membre fondateur d’Imagine, et la Fondation Bettencourt Schueller, très engagée dans ce programme.

Depuis sa création, Imagine a déjà formé plus de 250 médecins/chercheurs (médecins statutaires, PhD, post-docs), dont :

Imagine initie aussi des projets d’enseignement pluridisciplinaires, en partenariat avec des grandes écoles de commerce et d’ingénieurs. Imagine Bioentrepreneurs Launchpad est en effet un programme de formation d’entrepreneurs et d’accélération de projets de start-up healthtech présentant un fort impact pour les patients. Il s’adresse à des étudiants de différents profils : scientifiques, médecins, pharmaciens, ingénieurs ou managers. C’est un programme innovant pour former les bioentrepreneurs de demain.

Valoriser les résultats de la recherche

Le département Innovation et Valorisation d’Imagine œuvre au quotidien pour transformer les avancées de la recherche en innovations au bénéfice des patients et de la société en général. La valorisation consiste donc à accélérer le passage du laboratoire au lit du patient.

Pour que les découvertes puissent déboucher sur des nouvelles approches diagnostiques ou thérapeutiques - non seulement pour les patients atteints de maladies génétiques rares mais aussi pour un plus grand nombre de patients – le département passe souvent par des partenariats avec des entreprises industrielles existantes ou créées à cet effet.

Depuis la création d’Imagine :

  • 82 brevets et logiciels ont été déposés,
  • 307 contrats ont été conclus avec des industriels,
  • 9 start-ups ont été créées.

Le département Innovation et valorisation donne aussi les moyens aux médecins de développer leur programme en recherche clinique, étape essentielle du développement de nouvelles stratégies diagnostiques et de traitements. En 2018, 580 études cliniques incluant plus de 7 000 patients étaient en cours au sein du périmètre Imagine.

Chiffres clé 2018
les chiffres clé 2018 © Bruno Boudon