Obiettivo 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. Campo scientifico scienze mediche e della salutescienze della salutemedicina personalizzatascienze naturaliscienze biologichegeneticanucleotidiscienze naturaliscienze biologichegeneticagenomi Programma(i) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Argomento(i) ERC-PoC-2016 - ERC-Proof of Concept-2016 Invito a presentare proposte ERC-2016-PoC Vedi altri progetti per questo bando Meccanismo di finanziamento ERC-POC - Proof of Concept Grant Coordinatore UNIVERSITAT AUTONOMA DE BARCELONA Contribution nette de l'UE € 150 000,00 Indirizzo Edif a campus de la uab bellaterra cerdanyola v 08193 Cerdanyola del valles Spagna Mostra sulla mappa Regione Este Cataluña Barcelona Tipo di attività Higher or Secondary Education Establishments Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Partecipazione a programmi di R&I dell'UE Opens in new window Rete di collaborazione HORIZON Opens in new window Altri finanziamenti € 0,00 Beneficiari (1) Classifica in ordine alfabetico Classifica per Contributo netto dell'UE Espandi tutto Riduci tutto UNIVERSITAT AUTONOMA DE BARCELONA Spagna Contribution nette de l'UE € 150 000,00 Indirizzo Edif a campus de la uab bellaterra cerdanyola v 08193 Cerdanyola del valles Mostra sulla mappa Regione Este Cataluña Barcelona Tipo di attività Higher or Secondary Education Establishments Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Partecipazione a programmi di R&I dell'UE Opens in new window Rete di collaborazione HORIZON Opens in new window Altri finanziamenti € 0,00
