Genomics

Countrywide computer network created to target cancer therapies

  • Secretary

    Luca Mazzarella

    IEO MILANO

  • Wet Coordinator

    Simonetta Buglioni

    IRCCS IRE

  • Bioinformatic Coordinator

    Giovanni Tonon

    OSR MILANO

ACC is the Italian point of reference in translational research having the most important Italian research institutes involved in landmarked translational studies. Furthermore, AC has activated working groups for individual diseases whose matrix is represented by the Genomics WG. The latter is a transversal research platform to other clinical groups created to facilitate access to molecular analysis technologies to researchers who belong to the Network.

The national IT infrastructure, coordinated by a team of bioinformatics scientists set at the European Institute of Oncology (IEO) in Milan, is central to the WG – lead by Luca Mazzarella of the IEO. The team oversees the work of the researchers from each ACC associated Institute.

In each Centre, a bioinformatics scientist and a wet biologist are in charge of the processing, analysis and subsequent transfer of data obtained from clinical trials to the national computational platform. The mutational information flowed to the core is integrated with scientific literature to provide databases with a user-friendly interface that the oncologist can use to identify the best possible treatment for the patient based on her/his molecular profile.

The future work of the Working Group will be oriented in three main directions.

Firstly, the WG is oriented towards optimizing collaboration within the Network and association/alliance with pharmacology research stakeholders in drug research as it is clear that if the most breakthrough technological availability of being able to characterize each individual does not correspond to a wide range of tailored drugs, the effort will remain sterile and fruitless.

Secondly, and even more importantly, integrating the various methods of molecular analysis – point mutations, increase in sensitivity for structural variants, use of gene expression data and advanced technologies, such as RNA Sequencing and the sequencing of specific aspects of tumour biology is a focus of the WG.

Finally, the WG focusses on developing technologies for the analyses of circulating DNA (liquid biopsy) that will allow examining large panels of mutations and even metabolomics or proteomics in the blood. In this way, one of the main obstacles to implementing precision medicine, which is given by the continuous demand for patient biopsy material, will be overcome.


Team

  • Bioinformatics
  • Wet