Institut IMAGINE 

Located on the campus of the Necker-Enfants malades hospital, the Institut Imagine is a world leader in research, care and teaching on genetic diseases. Its unique architecture, designed by Jean Nouvel and Bernard Valéro, brings together 1,000 researchers, physicians, teacher-researchers, engineers and health care personnel in a single location to work with patients, with the ambition of accelerating research and diagnosis and therapeutic innovation to change the lives of families affected by genetic diseases. The Institut Imagine has been certified “Institut hospitalo universitaire” (IHU), in 2011 and 2019 and a “Institut Carnot”, in 2020. It is supported by six founding members, including AP-HP, Inserm and Université Paris Cité, as well as by private partners and patrons. Every day in France, 64 babies are born with a genetic disease. Nearly 8,000 genetic diseases affect more than 3 million people, of which nearly one in two is undiagnosed and more than 8 in 10 have no dedicated treatment. Faced with this public health emergency, the challenge is twofold: to diagnose and to cure.

Researchers implicated in the project: Alexandre Benmerah, Amandine Viau, Guillaume Rocha, Lucie Menguy, Fabienne Jabot-Hanin (Bioinformatics Platform), Andrei Kiselev

Data Manager implicated in the project: Olha Sobetska

Researcher implicated in the project: Xiaoyi Chen

France Partners

Assistance Publique – Hôpitaux de Paris (Greater Paris University Hospitals)

The leading hospital and university centre (CHU) in Europe, Greater Paris University Hospitals and its 38 hospitals are organised into six hospital-university groups (AP-HP. Centre – Université Paris Cité ; AP-HP. Sorbonne Université ; AP-HP. Nord – Université Paris Cité ; AP-HP. Université Paris Saclay ; AP-HP. Hôpitaux Universitaires Henri Mondor et AP-HP. Hôpitaux Universitaires Paris Seine-Saint-Denis) and are centered around five universities in the Île-de-France region. Closely linked to large research bodies, Greater Paris University Hospitals include four international hospital-university institutes (Institut du Cerveau, ICAN, IMAGINE, FOReSIGHT) and the largest French health data repository (EDS). As a major stakeholder in applied research and health innovation, Greater Paris University Hospitals hold a portfolio of 650 active patents, and each year its clinicians sign off nearly 10,000 scientific publications and over 4,000 research projects are under development, all promoters combined. In 2020, Greater Paris University Hospitals were awarded the Institut Carnot label, which is a recognition of the quality of partner research: Carnot@AP-HP offers industrial stakeholders applied and clinical research solutions in the health sector. In 2015, Greater Paris University Hospitals also founded the Greater Paris University Hospitals Foundation to support the biomedical and health research performed in all its hospitals.

France Partners


Inserm is a public scientific and technological institute which operates under the joint authority of the French Ministries of Health and Research. The institute is dedicated to biomedical research and human health, and is involved in the entire range of activities from the laboratory to the patient’s bedside. It also partners with the most prestigious research institutions in the world that are committed to scientific challenges and progress in these fields.

Researchers implicated in the project: Mirella Lo Scrudato, Cathy Obringer, Kirsley Chennen

Researcher implicated in the project: Vincent Montero

France Partners

Medetia SAS

Focusing on paediatric ciliopathies, the French preclinical biotech Medetia develops innovative therapies for genetic diseases affecting kidney, retina, bone or cartilage. Medetia is poised to enter the clinic in 2025 with a well-tolerated small molecule to treat a rare retinal degenerative disease (LCA10). Thanks to its close relationship with two major research institutes in France, Inserm and Imagine, Medetia fosters its expertise in selecting other preclinical programs and transforming them into proprietary pipelines. In June 2023, Medetia also announced a strategic partnership with the international pharmaceutical group Ipsen to build some of these other pioneering drugs.

Researcher implicated in the project: Luis Briseno-Roa

France Partners


This consortium brings together a unique network of clinical, biological and computer scientists at Imagine Institute, INSERM, APHP, Strasbourg University Hospital, and École Polytechnique. It is funded under France’s major Investments for the future program (PIA) ANR Funding Program: “Hospital-University Research in Health” (RHU).

France TheRaCil Network