Explore the words cloud of the Reg-Seq project. It provides you a very rough idea of what is the project "Reg-Seq" about.
The following table provides information about the project.
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
|Coordinator Country||France [FR]|
|Total cost||1˙500˙000 €|
|EC max contribution||1˙500˙000 € (100%)|
1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
|Duration (year-month-day)||from 2017-05-01 to 2022-04-30|
Take a look of project's partnership.
|1||INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE||FR (PARIS)||coordinator||1˙500˙000.00|
Type 2 diabetes (T2D) is a complex systemic metabolic disorder which has developed into a global major health problem responsible for early morbidities and mortality. T2D is a multifactorial disease, resulting from progressive alteration of insulin secretion from beta cells in pancreatic islets, on a background of resistance to insulin action in various organs and tissues, including liver, skeletal muscle and adipose tissue. T2D heritability is estimated around 40-70%. Genome-wide association studies identified more than 90 T2D-associated common variants, but altogether they explain less than 15% of T2D inheritance. Rare loss-of-function coding variants may contribute to T2D risk. Moreover, recent studies suggested the putative impact on T2D risk of functional non-coding variants within active enhancers of pancreatic islets; but tissue-specific regulatory regions have remained largely unexplored by genetic epidemiology studies. I intend to make progress in T2D genetic epidemiology and physiology by extending genetic investigation to frequent and rare mutations in non-coding regulatory regions on a whole-genome basis. In the Reg-Seq project, I propose the next-generation sequencing (NGS) of most relevant DNA regulatory sequences of four key metabolic tissues for T2D (pancreatic islets, liver, muscle and adipose tissue) in large well-phenotyped prospective populations (N=10,000 samples), followed by a replication in additional cohorts and by comprehensive functional experiments when genetic associations are identified. This project should lead to the identification of new functional genetic markers and pathways involved in T2D risk and development, and should help to stratify the T2D population for precision medicine, which is one of the major goals of the EU-Horizon 2020 programme. Further elucidation of the missing heritability should enable a major advance in the prediction of T2D risk, which is still very poor for a genuine clinical translation.
|year||authors and title||journal||last update|
Morgane Baron, Julie Maillet, MarlÃ¨ne Huyvaert, AurÃ©lie Dechaume, RaphaÃ«l Boutry, HÃ©lÃ¨ne Loiselle, Emmanuelle Durand, BÃ©nÃ©dicte Toussaint, Emmanuel Vaillant, Julien Philippe, JÃ©rÃ©my Thomas, Amjad Ghulam, Sylvia Franc, Guillaume Charpentier, Jean-Michel Borys, Claire LÃ©vy-Marchal, MaÃ¯thÃ© Tauber, RaphaÃ«l Scharfmann, Jacques Weill, CÃ©cile Aubert, Julie Kerr-Conte, FranÃ§ois Pattou, Rona
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension
published pages: 1733-1738, ISSN: 1078-8956, DOI: 10.1038/s41591-019-0622-0
|Nature Medicine 25/11||2020-01-29|
Louise Montagne, Mehdi Derhourhi, AmÃ©lie Piton, BÃ©nÃ©dicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, DorothÃ©e Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, AmÃ©lie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-FranÃ§ois Zagury, MÃ©lanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, AmÃ©lie Bonnefond
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
published pages: 1-9, ISSN: 2212-8778, DOI: 10.1016/j.molmet.2018.05.005
|Molecular Metabolism 13||2019-04-18|
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