Cel 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. Dziedzina nauki medical and health scienceshealth sciencespersonalized medicinenatural sciencesbiological sciencesgeneticsnucleotidesnatural sciencesbiological sciencesgeneticsgenomes Program(-y) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Temat(-y) ERC-PoC-2016 - ERC-Proof of Concept-2016 Zaproszenie do składania wniosków ERC-2016-PoC Zobacz inne projekty w ramach tego zaproszenia System finansowania ERC-POC - Proof of Concept Grant Instytucja przyjmująca UNIVERSITAT AUTONOMA DE BARCELONA Wkład UE netto € 150 000,00 Adres EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V 08193 Cerdanyola Del Valles Hiszpania Zobacz na mapie Region Este Cataluña Barcelona Rodzaj działalności Higher or Secondary Education Establishments Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Uczestnictwo w unijnych programach w zakresie badań i innowacji Opens in new window sieć współpracy HORIZON Opens in new window Koszt całkowity € 150 000,00 Beneficjenci (1) Sortuj alfabetycznie Sortuj według wkładu UE netto Rozwiń wszystko Zwiń wszystko UNIVERSITAT AUTONOMA DE BARCELONA Hiszpania Wkład UE netto € 150 000,00 Adres EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V 08193 Cerdanyola Del Valles Zobacz na mapie Region Este Cataluña Barcelona Rodzaj działalności Higher or Secondary Education Establishments Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Uczestnictwo w unijnych programach w zakresie badań i innowacji Opens in new window sieć współpracy HORIZON Opens in new window Koszt całkowity € 150 000,00