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Presentation
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. Through this approach we aim to be at the forefront of translational research for neurological disorders to advance therapeutic treatment for a range of these rare as well as prevalent neurological diseases.
Through this multifaceted approach, our team is involved in all the aspects of translational research in an integrative approach, from a better characterization of patient cohorts and their genetic markers, to modelling and fundamental research to identify appropriate therapeutic targets, and ultimately developing clinical trial methodology to test novel treatments. 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.
We are actively recruiting postdocs, PhDs and technicians for a number of ongoing projects, included funded projects from RHU, ANR, FRM, and industrial contracts. Candidates with experience in zebrafish models, drug screening, epilepsy projects, molecular genetics, iPSC differentiation, bioinformatics. Applicants with outstanding record and experience in one of these areas are recommended to apply.
Team
Resources & publications
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Journal (source)JAMA Neurol
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrom...
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Journal (source)Cell Rep
Trpv4 Mediates Hypotonic Inhibition of Central Osmosensory Neurons via Taurin...
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Journal (source)Ann Clin Transl Neurol
Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.
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Journal (source)Ann. Neurol.
Gamma-aminobutyric acidergic transmission underlies interictal epileptogenici...
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Journal (source)Brain
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with p...
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Journal (source)N. Engl. J. Med.
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
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Journal (source)Autophagy
The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity ...
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Research: a scientific adventure
Our goal: to better understand genetic diseases to better treat them.