DIMA (DIagnostica Molecolare Avanzata, Advance Molecular DIagnostic) Centre
Pier Giuseppe Pelicci
Director
[email protected] | |
Telephone | +39 02 57489831 |
Location |
Building 13
Floor 1st Via Adamello 16, Milano |
Despite innovative therapies have revolutionized the therapeutic landscape in oncology, there is currently a need for the identification of novel biomarkers that can:
- enable more efficient cancer patient stratification for the selection of the best treatment;
- predict the development of resistance or toxicity to therapies;
- predict the genetic risk for cancer development.
The DIMA infrastructure has been designed to facilitate a streamlined experimental and bioinformatic workflow for non-conventional, i.e. not included in the standard diagnostic workflow foreseen by our National Health Care System, multi-omics analysis. Specifically, in order to identify novel therapies for each candidate cancer patient, we perform a series of "Core" omic analyses, including:
- Whole Exome Sequencing (WES) to identify clinically actionable genetic alterations.
- RNA-sequencing for the definition of diagnostic and/or prognostic gene signatures.
- Whole-genome "shotgun" metagenomic sequencing (WMS) of fecal samples to identify and quantify the most abundant microbial species potentially associated with disease development.
- Multiplexed ELISA for the quantification of clinically relevant circulating cytokines.
In addition to conducting the "Core" omic analyses, the DIMA laboratory is committed to pioneering new experimental and computational methods for cutting-edge biomarkers discovery, both through importation of ongoing sophisticated analyses and/or development of innovative technologies/workflows transferable to clinical diagnostics (i.e. custom gene panels, SCMseq).
The DIMA Centre is a multilevel cooperative infrastructure that involves:
- DIMA Lab Unit: a wet-lab unit responsible for the management and processing of the patient samples at DIMA and the execution of all experimental activities.
- Data Science Unit: a bioinformatics unit for the analysis of all data generated from DIMA's omic-investigations.
- Data Engineering Unit: for the development of new informatic tools that allow the extraction of structured and unstructured data from pre-existing platforms and the construction of a novel IT platform for data integration. This project is being developed in tight collaboration with the IT and the CTO of IEO. The data platform will be immediately available and interpretable to all clinicians and researchers of IEO.
- For collection and traceability of the patient samples, the DIMA Lab Unit operates as a section of the BioBank of IEO.
Most Relevant Publications
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Vozza G, Bonetti E, Tini G, Favalli V, Frige' G, Bucci G, De Summa S, Zanfardino M, Zapelloni F, Mazzarella L
Benchmarking and improving the performance of variant-calling pipelines with RecallME.
Bioinformatics, 2023
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Todisco E, Gigli F, Ronchini C, Amato V, Sammassimo S, Pastano R, Parma G, Lapresa MT, Bertolini F, Corsini C, Gregato G, Poletti C, Pelicci PG, Alcalay M, Colombo N, Tarella C
Hematological disorders after salvage PARPi treatment for ovarian cancer: cytogenetic and molecular defects and clinical outcomes.
Int J Cancer, 2022
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Fancello L, Guida A, Frige G, Michel Ceol AG, Babini G, Scaglione GL, Zanfardino M, Mazza T, Ferrando L, Pelicci PG, Mazzarella L
TMBleR, a bioinformatic tool to optimize TMB estimation and predictive power.
Bioinformatics, 2021
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Favalli V, Tini G, Bonetti E, Vozza G, Guida A, Gandini S, Pelicci PG, Mazzarella L
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.
Am J Hum Genet, 2021