Selected Papers from 1st International and 32nd Annual Conference of Italian Association of Cell Culture

A special issue of High-Throughput (ISSN 2571-5135).

Deadline for manuscript submissions: closed (30 November 2019) | Viewed by 26736

Special Issue Editor


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Guest Editor
Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta University Campus, 88100 Catanzaro, Italy
Interests: cancer; integrative omics analysis; mirna therapeutics; pharmacogenomics

Special Issue Information

Dear Colleagues,

The 1st International and 32nd Annual Conference of Italian Association of Cell Culture will be held in Catanzaro, Italy, in October 1–2, 2019. This Conference was launched in 1987, and over the years, it has attracted several leading scientsists working in the field of cellular and molecular biology, pathology, pharmacology, and immunology, bringing preclinical and translational research together. The recent advances in the molecular profiling of DNA and RNA based on next-generation sequencing (NSG) techniques have driven several discoveries in molecular diagnostics and pathway-directed targeted therapies, which in turn have markedly boosted drug discovery. The constant refinement of profiling analyses—from single gene to single cells—has tremendously deepened our knoweldge on pathogenesis, progression, and responsiveness to therapy of malignant and nonmalignant diseases. These cutting-edge approaches make clear that: (i) tumors and many other diseases are the result of heterogeneous genetic and epigenetic events; and (ii) disease progression and response to treatments are due to genetic alterations, cross-talks with the microenvironment, and balance between host immune-activation and immune-suppression.

This conference is a bridge between preclinical/clinical unmet needs and technological solutions in the era of precision medicine. Attendees will have the opportunity to meet eminent scientists in the field of circulating biomarkers, mutational, transcriptomics, and immunomics analysis and will be instructed on the latest platforms for personalized therapy. The meeting includes one Nobel Prize Opening Lecture, two Distinguished Lectures, one Closing Lecture—all held by word-class researchers—more than ten plenary lectures given by highly qualified international speakers, two Technical Sessions dedicated to the leading companies in sequencing and precision medicine, and substantial times for young reseracher communications and posters, matching multidisciplinary expertise from academia and industry.

Dr. Maria Di Martino
Guest Editor

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Keywords

  • Next-generation sequencing
  • Single cell profiling
  • Cancer genetics, genomics and epigenetics
  • Biomarkers discovery
  • Gene/pathway-directed targeted therapy
  • Trascriptomics
  • Immunomics
  • Tumor–stroma and tumor–immune-environment interaction
  • Cancer immunotherapy
  • Cancer metabolism

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Published Papers (4 papers)

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Research

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12 pages, 669 KiB  
Article
Comparative Study of NGS Platform Ion Torrent Personal Genome Machine and Therascreen Rotor-Gene Q for the Detection of Somatic Variants in Cancer
by Angela Lombardi, Margherita Russo, Amalia Luce, Floriana Morgillo, Virginia Tirino, Gabriella Misso, Erika Martinelli, Teresa Troiani, Vincenzo Desiderio, Gianpaolo Papaccio, Francesco Iovino, Giuseppe Argenziano, Elvira Moscarella, Pasquale Sperlongano, Gennaro Galizia, Raffaele Addeo, Alois Necas, Andrea Necasova, Fortunato Ciardiello, Andrea Ronchi, Michele Caraglia and Anna Grimaldiadd Show full author list remove Hide full author list
High-Throughput 2020, 9(1), 4; https://doi.org/10.3390/ht9010004 - 11 Feb 2020
Cited by 2 | Viewed by 8262
Abstract
Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for [...] Read more.
Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for the detection of target genes for current therapies in non-small-cell lung cancer (NSCLC), metastatic colorectal cancer (mCRC), and melanoma patients. We focused our attention on EGFR, BRAF, KRAS, and BRAF genes for NSCLC, melanoma, and mCRC samples, respectively. Our study demonstrated that in about 2% of analyzed cases, the two techniques did not show the same or overlapping results. Two patients affected by mCRC resulted in wild-type (WT) for BRAF and two cases with NSCLC were WT for EGFR according to PGM analysis. In contrast, these samples were mutated for the evaluated genes using the therascreen test on Rotor-Gene Q. In conclusion, our experience suggests that it would be appropriate to confirm the WT status of the genes of interest with a more sensitive analysis method to avoid the presence of a small neoplastic clone and drive the clinician to correct patient monitoring. Full article
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Review

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16 pages, 3281 KiB  
Review
DMETTM Genotyping: Tools for Biomarkers Discovery in the Era of Precision Medicine
by Giuseppe Agapito, Marzia Settino, Francesca Scionti, Emanuela Altomare, Pietro Hiram Guzzi, Pierfrancesco Tassone, Pierosandro Tagliaferri, Mario Cannataro, Mariamena Arbitrio and Maria Teresa Di Martino
High-Throughput 2020, 9(2), 8; https://doi.org/10.3390/ht9020008 - 29 Mar 2020
Cited by 7 | Viewed by 4875
Abstract
The knowledge of genetic variants in genes involved in drug metabolism may be translated into reduction of adverse drug reactions, increase of efficacy, healthcare outcomes improvement and economic benefits. Many high-throughput tools are available for the genotyping of Single Nucleotide Polymorphisms (SNPs) known [...] Read more.
The knowledge of genetic variants in genes involved in drug metabolism may be translated into reduction of adverse drug reactions, increase of efficacy, healthcare outcomes improvement and economic benefits. Many high-throughput tools are available for the genotyping of Single Nucleotide Polymorphisms (SNPs) known to be related to drugs and xenobiotics metabolism. DMETTM platform represents an example of SNPs panel to discover biomarkers correlated to efficacy or toxicity in common and rare diseases. The difficulty in analyzing the mole of information generated by DMETTM platform led to the development and implementation of algorithms and tools for statistical and data mining analysis. These softwares allow efficient handling of the omics data to validate the explorative SNPs identified by DMET assay and to correlate them with drug efficacy, toxicity and/or cancer susceptibility. In this review we present a suite of bioinformatic frameworks for the preprocessing and analysis of DMET-SNPs data. In particular, we introduce a workflow that uses the GenoMetric Query Language, a high-level query language specifically designed for genomics, able to query public datasets (such as ENCODE, TCGA, GENCODE annotation dataset, etc.) as well as to combine them with private datasets (e.g., output from Affymetrix® DMETTM Platform). Full article
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16 pages, 314 KiB  
Review
Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer
by Veronica Zelli, Chiara Compagnoni, Katia Cannita, Roberta Capelli, Carlo Capalbo, Mauro Di Vito Nolfi, Edoardo Alesse, Francesca Zazzeroni and Alessandra Tessitore
High-Throughput 2020, 9(1), 1; https://doi.org/10.3390/ht9010001 - 10 Jan 2020
Cited by 23 | Viewed by 7474
Abstract
Next generation sequencing (NGS) provides a powerful tool in the field of medical genetics, allowing one to perform multi-gene analysis and to sequence entire exomes (WES), transcriptomes or genomes (WGS). The generated high-throughput data are particularly suitable for enhancing the understanding of the [...] Read more.
Next generation sequencing (NGS) provides a powerful tool in the field of medical genetics, allowing one to perform multi-gene analysis and to sequence entire exomes (WES), transcriptomes or genomes (WGS). The generated high-throughput data are particularly suitable for enhancing the understanding of the genetic bases of complex, multi-gene diseases, such as cancer. Among the various types of tumors, those with a familial predisposition are of great interest for the isolation of novel genes or gene variants, detectable at the germline level and involved in cancer pathogenesis. The identification of novel genetic factors would have great translational value, helping clinicians in defining risk and prevention strategies. In this regard, it is known that the majority of breast/ovarian cases with familial predisposition, lacking variants in the highly penetrant BRCA1 and BRCA2 genes (non-BRCA), remains unexplained, although several less penetrant genes (e.g., ATM, PALB2) have been identified. In this scenario, NGS technologies offer a powerful tool for the discovery of novel factors involved in familial breast/ovarian cancer. In this review, we summarize and discuss the state of the art applications of NGS gene panels, WES and WGS in the context of familial breast/ovarian cancer. Full article

Other

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9 pages, 970 KiB  
Commentary
Precision Medicine in Non-Communicable Diseases
by Giuseppe Novelli, Michela Biancolella, Andrea Latini, Aldo Spallone, Paola Borgiani and Marisa Papaluca
High-Throughput 2020, 9(1), 3; https://doi.org/10.3390/ht9010003 - 7 Feb 2020
Cited by 6 | Viewed by 5401
Abstract
The increase in life expectancy during the 20th century ranks as one of society’s greatest achievements, with massive growth in the numbers and proportion of the elderly, virtually occurring in every country of the world. The burden of chronic diseases is one of [...] Read more.
The increase in life expectancy during the 20th century ranks as one of society’s greatest achievements, with massive growth in the numbers and proportion of the elderly, virtually occurring in every country of the world. The burden of chronic diseases is one of the main consequences of this phenomenon, severely hampering the quality of life of elderly people and challenging the efficiency and sustainability of healthcare systems. Non-communicable diseases (NCDs) are considered a global emergency responsible for over 70% of deaths worldwide. NCDs are also the basis for complex and multifactorial diseases such as hypertension, diabetes, and obesity. The epidemics of NCDs are a consequence of a complex interaction between health, economic growth, and development. This interaction includes the individual genome, the microbiome, the metabolome, the immune status, and environmental factors such as nutritional and chemical exposure. To counteract NCDs, it is therefore essential to develop an innovative, personalized, preventative, early care model through the integration of different molecular profiles of individuals to identify both the critical biomarkers of NCD susceptibility and to discover novel therapeutic targets. Full article
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