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Next-next generation sequencing: Personalized medicine in hereditary cancer

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New paths for personalized medicine in cancer and infections are being paved today. Roche Diagnostics has presented at a press conference the 'Personalized Medicine Platform NNGS (Next-Next Generation Sequencing)' project, which counts with Bellvitge Biomedical Research Institute (IDIBELL), Vall d'Hebron Research Institute ( VHIR), Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Hospital del Mar and IrsiCaixa, the AIDS research Institute.

The main objective of the project is to develop a diagnostic methodology based on high-throughput massive sequencing of genomic systems of high variability, such as viruses, bacteria or tumor cells. In addition to that, its applicability in terms of personalized medicine will be put to the test: proper diagnosis and treatment at the right time, in the right dose and for the appropriate patient.

This project, which will run for three years with an investment of over 8 million euros, relies on the financial support of CDTI. In addition, it aims to make use of a high-tech pioneering equipment called SMRT-NNGS that, once validated at VHIR, will be added to in IDIBELL, Hospital del Mar, VHIO and Vall d'Hebron University Hospital in 2017.

Applications of Next-Next Generation sequencing technology (NNGS)

The new platform uses the SMRT (Single Molecule Real Time Sequencing) technology, which takes advantage ot the natural process of DNA replication and currently allows sequencing of up to 8 human genomes in a single analysis. Aside from saving time, SMRT allow researchers to detect genome repetitions, powerfully widening the scope of all studies in this field.

Therefore, researchers can explore synergies between different mutations are in the same genome and address sequencing of highly repetitive DNA fragments, or large genome fragments inserted or omitted that may be related to a disease.

The project will be divided into two main areas: the development of NNGS diagnostic applications in oncology, in collaboration with IDIBELL in hereditary cancer and VHIO and Hospital del Mar in non-hereditary cancer, and the development of NNGS application for diagnosis infectious diseases (virus / bacteria) in collaboration with VHIR-HUVH and IrsiCaixa.

Applications in cancer diagnosis

The area of hereditary cancer is lead by IDIBELL through Dr. Conxi Lázaro's research group. The project aims to develop an economically viable genetic sequencing test to determine all types of mutations in about a hundred genes with a medium or high risk of hereditary cancer. The obtained data will be added to a database that allows clinicians to classify most of the identified mutations and act accordingly.

As for non-hereditary cancer, VHIO and Hospital del Mar researchers will validate certain somatic mutations in different cancers (colorectal, ovarian, breast, prostate, etc.) using a genetic sequencing test to determine the genetic alterations present in the patient's tumor sample.

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