Translational Genomics; NGS; Genotyping; Rare and common diseases; Cancer; Pharmacogenetics, Datasharing, Bioinformatics, Education

Medical Genomics

Laboratoires d'excellence (LABX)

Laboratoires d'excellence hors Idex

Informations générales

Référence projet : 10-LABX-0013
RST : Jean-François DELEUZE
Etablissement Coordinateur : Fondation Jean Dausset - CEPH
Région du projet : Île-de-France
Discipline : 5 - Bio Med

Aide de l'ANR 12 000 000 euros
Investissement couvrant la période de avril 2011 à décembre 2022

Résumé de soumission

GenMed is 3 years old. Research projects are in progress. 7 papers published in 2016 report discoveries in Alzheimer, autism and thrombosis genetics while others are either in preparation or in submission. In rare diseases, WGS in exome negative patients identified candidate mutations in non-exonic regions in already 3 diseases, further validating the superior performance of WGS over WES. GenMed is systematically looking for international collaborations to increase its visibility and favor replication. For example, data from AD, Autism, VTE and DCM are integrated into ambitious programs. Functional studies are ongoing, studying mutations in human IPS derived models or mouse in autism, DCM and VTE. GenMed is teaming up with the French Genomic Medicine plan that will contribute additional funding to the French population-sequencing project to ensure optimal coverage of individuals in France. It will become the base of the reference sequences used in diagnostics, demonstrating 1) the scientific merit of the project, 2) the strategic impact GenMed will have on genomic medicine and 3) the GenMed capacity to leverage external funding. In communication, the 1st GenMed workshop was successful and will become a yearly event. The next one will be in May 2017 featuring presentations from renowned speakers but also from young GenMed investigators and all new recruits. On the training side, GenMed has been hosting and financing 9 master students, 2 engineers, 2 PhDs, and 3 post docs. Innovative approaches were implemented such as 1) the GenMed days (presentations tailored to the need of the audience; e.g. the GenMed day gathering most of the French medical students in clinical genetics) and the GenMed tools (a set of selected sequences produced by GenMed to train students and physicians). Finally, A bioinformatics company, TRAASER, spun off from the CNG commercializes Diagen™, an expert system for clinical genome analysis as its first product.

L'auteur de ce résumé est le coordinateur du projet, qui est responsable du contenu de ce résumé. L'ANR décline par conséquent toute responsabilité quant à son contenu.

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