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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.

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

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.