Imagine Institute of Genetic Diseases (NEM)
As the leading European center for research, care and education on 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. By grouping together researchers, doctors and patients for consultations in the same building at Necker-Enfants Malades hospital 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 and new treatments. Pioneer in Europe, Imagine is one of the rare centers in the world to offer this integrated “doctor-researcher-patient” organization. It is what allowed Imagine to be approved as “University Hospital Institute“(IHU) in 2011, in the context of the French Investments for the Future Program.
Imagine Institute is composed of 24 research labs, 4 adjunct laboratories, 25 rare diseases reference centers and 13 core facilities. A critical mass of experts – 1000 scientists, clinicians and healthcare professionals – all established in one place in the Imagine building and the Necker-Enfants malades hospital campus, allow the Imagine Institute to benefit from key expertise in developmental defects, immunology, infectiology, hematology, nephrology, metabolic diseases, dermatology, gastroenterology, cardiology. The continuum between Imagine and Necker-Enfants malades hospital AP-HP was designed to accelerate the provision of innovations for patients. Necker-Enfants malades Hospital (APHP), associated with Imagine, is particularly implicated in rare diseases with 33 reference centers and 15 ERN. A national French network for neuromuscular disorders is organised called FILNEMUS. In the reference center for neuromuscular disorders, 600 hundred paediatric patients are followed for clinical, muscular, cardiac, respiratory and brain functions. Clinical trials are also possible. The French data basis for dystrophinopathies is coordinated by Pr Isabelle Desguerre in Necker-Enfants malades Hospital.
Neurocognition and neurodevelopment are one of the main topics in Imagine, with brain imaging for TSA, functional and genetic studies in epilepsy (Pr Rima Nabbout) and cortical dysplasia (Pr Nadia Bahi-Buisson) (2 ERN). The cognitive impairment in dystrophinopathy is one of our subjects of research in collaboration with the brain imaging team of Imagine (Pr Nathalie Boddaert).
Website
Team
Prof. Isabelle Desguerre
Position in Organisation
Professor and doctor in neurosciences, Necker-Enfants malades Hospital
Profile
Isabelle Desguerre is a medical doctor, specialising in paediatric neurology. She is responsible for the Paediatric Unit at Necker-Enfants malades Hospital. She coordinates the reference centre for neuromuscular diseases at Necker Hospital and carries out clinical trials in Duchenne Muscular Dystrophy (DMD).
She has more than 95 peer-reviewed publications.
Pr Desguerre has participated in the project TREAT-NMD, led by Professor Straub (UNEW).
Role in the project
Imagine Institute will be involved in WP5, Task 2: Neurobehavioral aspects: behavioural rating scales aimed at anxiety, depression, coping, autism spectrum disorder, attention deficit hyperactivity disorder and obsessive-compulsive disorder, but also Task 3: Comorbidities in registries.
Imagine will also be involved in the WP6, Task 1: Clinical MRI to assess genotype/phenotype associations, and Task 2: Traveling heads for data harmonization and in the WP7 for data integration.
Prof. Nathalie Boddaert
Position in Organisation
Professor of Pediatric Radiology and Head of the Pediatric radiology Department at Necker-Enfants malades Hospital
Profile
Nathalie Boddaert is a medical doctor, specialising in paediatric radiology at Necker-Enfants malades Hospital. She is head of the associated laboratory Image at Imagine and is responsible for the MRI 3T platform. Her team has developed a strong expertise in the analysis and processing of multimodal brain magnetic resonance images in pathological and healthy children. She has more than 310 peer-reviewed publications.
Role in the project
Imagine Institute will be involved in WP5, Task 2: Neurobehavioral aspects: behavioural rating scales aimed at anxiety, depression, coping, autism spectrum disorder, attention deficit hyperactivity disorder and obsessive-compulsive disorder, but also Task 3: Comorbidities in registries.
Imagine will also be involved in the WP6, Task 1: Clinical MRI to assess genotype/phenotype associations, and Task 2: Traveling heads for data harmonization and in the WP7 for data integration.
