Opendata, web and dolomites

Reg-Seq SIGNED

Functional genomics of non-coding mutations in regulatory regions of four metabolic tissues, and their involvement into type 2 diabetes through large-scale sequencing

Total Cost €

0

EC-Contrib. €

0

Partnership

0

Views

0

 Reg-Seq project word cloud

Explore the words cloud of the Reg-Seq project. It provides you a very rough idea of what is the project "Reg-Seq" about.

genuine    resistance    followed    goals    poor    t2d    horizon    tissues    experiments    genetic    muscle    seq    dna    type    intend    progressive    beta    investigation    putative       disorder    cohorts    organs    rare    markers    mortality    remained    liver    responsible    suggested    active    additional    sequences    progress    health    15    coding    risk    functional    cells    adipose    disease    multifactorial    precision    regulatory    identification    sequencing    islets    altogether    diabetes    association    mutations    ing    metabolic    variants    missing    generation    alteration    pancreatic    enhancers    inheritance    phenotyped    stratify    samples    ngs    physiology    secretion    genome    insulin    replication    prospective    2020    global    epidemiology    translation    background    basis    regions    morbidities    reg    10    population    elucidation    associations    action    prediction    frequent    70    skeletal    unexplored    medicine    tissue    systemic    largely    populations    heritability    clinical    function   

Project "Reg-Seq" data sheet

The following table provides information about the project.

Coordinator
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE 

Organization address
address: RUE DE TOLBIAC 101
city: PARIS
postcode: 75654
website: www.inserm.fr

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country France [FR]
 Total cost 1˙500˙000 €
 EC max contribution 1˙500˙000 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2016-STG
 Funding Scheme ERC-STG
 Starting year 2017
 Duration (year-month-day) from 2017-05-01   to  2022-04-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE FR (PARIS) coordinator 1˙500˙000.00

Map

 Project objective

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.

 Publications

year authors and title journal last update
List of publications.
2019 Morgane Baron, Julie Maillet, Marlène Huyvaert, Aurélie Dechaume, Raphaël Boutry, Hélène Loiselle, Emmanuelle Durand, Bénédicte Toussaint, Emmanuel Vaillant, Julien Philippe, Jérémy Thomas, Amjad Ghulam, Sylvia Franc, Guillaume Charpentier, Jean-Michel Borys, Claire Lévy-Marchal, Maïthé Tauber, Raphaël Scharfmann, Jacques Weill, Cécile Aubert, Julie Kerr-Conte, François 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
2018 Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie 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

Are you the coordinator (or a participant) of this project? Plaese send me more information about the "REG-SEQ" project.

For instance: the website url (it has not provided by EU-opendata yet), the logo, a more detailed description of the project (in plain text as a rtf file or a word file), some pictures (as picture files, not embedded into any word file), twitter account, linkedin page, etc.

Send me an  email (fabio@fabiodisconzi.com) and I put them in your project's page as son as possible.

Thanks. And then put a link of this page into your project's website.

The information about "REG-SEQ" are provided by the European Opendata Portal: CORDIS opendata.

More projects from the same programme (H2020-EU.1.1.)

MOCHA (2019)

Understanding and leveraging ‘moments of change’ for pro-environmental behaviour shifts

Read More  

CohoSing (2019)

Cohomology and Singularities

Read More  

ZARAH (2020)

Women’s labour activism in Eastern Europe and transnationally, from the age of empires to the late 20th century

Read More