Objective The completion of the Human Genome Project has generated a new industry of personal genomics and personalized medicine, which aims to determine the entire DNA sequence of an individual to predict possible disease risks and improve treatment. However, despite the initial high expectations, it has not been possible to find the genetic causes for many common and complex diseases. Most of the work has been focused in one type of genetic variants, the single nucleotide variants or SNPs, but it has been recently shown that there are many other changes affecting larger regions of the genome, known as structural variants. One type of structural variant that has been implicated in functional differences between individuals and genetic diseases are inversions. Nevertheless, they have been poorly studied due to technical difficulties and there is not a global methodology to determine their presence in a quick and easy way. As part of the INVFEST ERC Starting Grant, we have developed a novel high-throughput screening technique for genotyping multiple inversions in hundreds of individuals. This project proposes the generation of a proof of concept package to move forward in the development of an innovative diagnostic kit of human genome inversions to be licensed to an industrial partner for its commercialization. To achieve this, the main goals are: (1) Optimizing the methodology by decreasing the amount of DNA needed and increasing the coverage to most known human inversions, especially those clinically relevant; (2) Strengthen the current patent through a freedom to operate study and a patent cooperation treaty application, and (3) Analyze the market to determine needs in inversion genotyping and compile feedback from the potential licensees and end-user companies. The availability of this technique would be crucial to identify unknown associations between inversions and phenotypic traits, including diseases, thus increasing its value and helping to fulfill genomics promises. Fields of science natural sciencesbiological sciencesgeneticsDNAmedical and health scienceshealth sciencespersonalized medicinenatural sciencesbiological sciencesgeneticsnucleotidesnatural sciencesbiological sciencesgeneticsgenomes Programme(s) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Topic(s) ERC-OA-2013-PoC - European Research Council ERC Proof of Concept Call for proposal ERC-2013-PoC See other projects for this call Funding Scheme CSA-SA(POC) - Supporting action (Proof of Concept) Host institution UNIVERSITAT AUTONOMA DE BARCELONA EU contribution € 149 670,00 Address EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V 08193 Cerdanyola Del Valles Spain See on map Region Este Cataluña Barcelona Activity type Higher or Secondary Education Establishments Administrative Contact Francisca Rabadán Sotos (Mrs.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data Beneficiaries (1) Sort alphabetically Sort by EU Contribution Expand all Collapse all UNIVERSITAT AUTONOMA DE BARCELONA Spain EU contribution € 149 670,00 Address EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V 08193 Cerdanyola Del Valles See on map Region Este Cataluña Barcelona Activity type Higher or Secondary Education Establishments Administrative Contact Francisca Rabadán Sotos (Mrs.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data