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 (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
- natural sciences biological sciences genetics DNA
- medical and health sciences health sciences personalized medicine
- natural sciences biological sciences genetics nucleotides
- natural sciences biological sciences genetics genomes
You need to log in or register to use this function
We are sorry... an unexpected error occurred during execution.
You need to be authenticated. Your session might have expired.
Thank you for your feedback. You will soon receive an email to confirm the submission. If you have selected to be notified about the reporting status, you will also be contacted when the reporting status will change.
Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
ERC-2013-PoC
See other projects for this call
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Host institution
08193 Cerdanyola Del Valles
Spain
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.