Advance therapeutic treatment for a range of the rare as well as prevalent neurological diseases.

Neurological diseases represent a major burden for our society with the majority of these diseases currently untreatable. Our team has played a major role in identifying and characterizing genetic causes for major neurodevelopmental diseases, including Developmental and Developmental and Epileptic Encephalopathy (DEE), Spinal Muscular Atrophy (SMA) and Focal Cortical Dysplasia (FCD) as well as in neurodegenerative diseases, including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).

The team has developed cellular models, including neurons derived from induced pluripotent stem cells of patients and controls in addition to zebrafish models to better elucidate the pathogenic causes of these diseases. The models developed by our team are ideally suited to define the disease mechanisms but also for compound testing and validation. We have extensive experience to validate compounds for preclinical testing prior to initiating clinical trials. Furthermore, pharmacological and biological factors that are found to be neuroprotective in multiple animal and cellular models of disease from our research efforts will be fast-tracked to initiate clinical trials

This research is highly patient driven, with extensive phenotyping using the multidisciplinary expertise in clinical testing and the state-of-the-art platforms that are available at the Imagine Institute in the Necker Hospital site (e.g. genomic sequencing, electrophysiology, metabolic, transcriptomic and proteomic analysis, imaging), while fostering collaborations with a network of national and international collaborations.