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A novel high throughput tool to genotype human genome inversions for personalise...

A novel high throughput tool to genotype human genome inversions for personalised medicine 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... ver más

31/05/2015

UAB

163K€

Presupuesto del proyecto: 163K€

Líder del proyecto

UNIVERSITAT AUTÒNOMA DE BARCELONA No se ha especificado una descripción o un objeto social para esta compañía.

Total investigadores 1265

Fecha límite participación Sin fecha límite de participación.

Financiación concedida El organismo FP7 notifico la concesión del proyecto el día 2015-05-31 No tenemos la información de la convocatoria

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Información adicional privada

No hay información privada compartida para este proyecto. Habla con el coordinador.

1 Participantes

UAB

0.00€ | Lider

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Líder del proyecto

UNIVERSITAT AUTÒNOMA DE BARCELONA No se ha especificado una descripción o un objeto social para esta compañía.

Total investigadores 1265

Presupuesto del proyecto 163K€

Fecha límite de participación Sin fecha límite de participación.

Descripción del proyecto 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.

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