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IN2DIAG

Application of genomic inversions as diagnostic markers in precision medicine

Total Cost €

EC-Contrib. €

Partnership

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IN2DIAG project word cloud

Explore the words cloud of the IN2DIAG project. It provides you a very rough idea of what is the project "IN2DIAG" about.

market companies scientific diagnostic clinical carry functional combined structural polymorphisms health characterization kit diseases phenotypic expand promises expectations opens variants genetic additional initial detection innovative invfest patents organisms discoveries unknown association fulfill helping genotyping hundreds technique starting human cnvs traits erc differences proof throughput inversions variation commercialization multiple medicine licensed previously protection small setting genome licensees diverse fraction copy ipr contacts strategy grant applicability snps variant despite poorly precision tool commercial goals in2diag extend nucleotide implicated single strengthen industrial proportion their risk inversion individuals

Project "IN2DIAG" data sheet

The following table provides information about the project.

Coordinator	UNIVERSIDAD AUTONOMA DE BARCELONA Organization address address: CALLE CAMPUS UNIVERSITARIO SN CERDANYOLA V city: CERDANYOLA DEL VALLES postcode: 8290 website: http://www.uab.es 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	Spain [ES]
Total cost	150˙000 €
EC max contribution	150˙000 € (100%)
Programme	1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
Code Call	ERC-2016-PoC
Funding Scheme	ERC-POC
Starting year	2017
Duration (year-month-day)	from 2017-07-01 to 2018-12-31

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	UNIVERSIDAD AUTONOMA DE BARCELONA UNIVERSIDAD AUTONOMA DE BARCELONA Organization address address: CALLE CAMPUS UNIVERSITARIO SN CERDANYOLA V city: CERDANYOLA DEL VALLES postcode: 8290 website: http://www.uab.es contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	ES (CERDANYOLA DEL VALLES)	coordinator	150˙000.00

Map

Project objective

Despite the initial high expectations of genome variation studies, only a small proportion of the genetic risk of common and complex diseases has been identified so far. Most of the work has focused on single nucleotide polymorphisms (SNPs) and copy number variants (CNVs). Inversions, on the other hand, are a type of structural variant that affects a large fraction of the human genome and is implicated in phenotypic differences in diverse organisms. However, they have been poorly studied because their specific characteristics make their detection especially challenging and how much they contribute to human diseases is not yet well known. As part of the INVFEST ERC Starting Grant, we have developed a novel high-throughput technique for genotyping multiple human inversions in hundreds of individuals, which opens new opportunities in the characterization of inversion functional effects and their association with diseases. The aim of the IN2DIAG project is to increase the value of this technology as an innovative diagnostic kit for human inversions that could be licensed to an industrial partner for its commercialization. To achieve that, the main goals are: (1) Carry out a proof of principle study of the association of inversions and 10 common diseases and other health-relevant traits to demonstrate the potential applicability of the technology; (2) Extend the current market research of inversion genotyping needs in a clinical setting and strengthen the contacts with potential licensees and end-user companies; and (3) Maintain the current IPR strategy and if necessary expand this protection with additional patents of possible new discoveries. Our project therefore involves a combined approach, strengthening both the scientific and commercial aspects of the technology, to bring to the market a new tool for the analysis of previously unknown genetic variants, helping to fulfill precision medicine promises.

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The information about "IN2DIAG" are provided by the European Opendata Portal: CORDIS opendata.