Coordonnateur: Vincent Laugel/Cristina Antal
Co-coordonnateurs: Jocelyn Laporte/Jamel Chelly
General scope and previous achievements:
The different partners of WP 2.2 have been collaborating for over fifteen years to:
1) Offer state-of-the-art clinical, histopathological and molecular diagnosis, with the set-up of Next Generation Sequencing.
2) Characterize the pathological mechanisms underlying several rare neuromuscular and developmental diseases, through the identification of novel genes, the validation and study of animal models, phenotype-genotype correlation studies and mutation databases.
3) Develop innovative therapeutic approaches through proof-of-concept in animal models and participation to clinical trials.
4) Improve the diagnosis and the understanding the neurodevelopmental diseases by fetopathological exam according to Haute Autorité de Santé recommendations (with the launching of a Fetal Pathology Unit in Strasbourg).
5) Develop pluridisciplinary committees for improving fetal diagnosis.
Future projects in NEUROGENYCS:
The further developments will be undertaken:
1) diagnostic tools improvement: NGS strategies for rapid, precise and less costly routine molecular diagnosis based on NGS (“MyoDiag” project) improve the genetic exploration, targeted/whole genome genetic exploration and functional studies in patient cells/cell lines.
2) pathological understanding: identification of novel myopathy and brain development genes through patients classification and exome and genome sequencing (leading the national “Myocapture” project), in-depth phenotyping of novel animal models (zebrafish, mice) with molecular and imaging techniques
3) therapeutic approaches: high-throughput screening of chemical compounds for biological effects on disease cell models, pre-clinical validation of innovative approach in animal models (gene therapy and oligonucleotide-based gene modulation), extend the participation to natural history and clinical trials. 4) increasing the accessibility to human fetal neuromuscular tissues by: targeting collection of diseased tissues for molecular investigations and establishing primary cultures/cell lines from normal brain at different developmental stages and from brains in specific pathological contexts.