Cytogenetic and Genomic Approaches: Perspectives in Diagnosis in Oncology and Neurodevelopmental Pathologies
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Keywords
cancer, cytogenetics, copy number variation, diagnostic and prognostic biomarkers, epigenetics, genomics, neurodevelopmental disorders
Abstract
Cytogenetic and genomic techniques allow a comprehensive or a more targeted characterization of the nuclear genome. The selection of the techniques to be used depends on the study’s aim; however, it is always important to correlate the genotype with the phenotype for a correct interpretation of the results. In this paper we present and discuss some of the main technologies in the field of cytogenetics and genomics used in the diag nosis and research, highlighting their advantages in such different areas such as oncology and neurodevelopmental disorders. Indeed, cancer is associated with several genetic and epigenetic alterations in cells that should be characterized and, in the same way, neurodevelopmental disorders, namely intellectual disability and autism spectrum disorders, that result from neurobiological alterations to the normal development of the fetus and/ or child, frequently caused by genetic and epigenetic alterations. Therefore, both in cancer and neurodevelopment disorders the use of conventional and molecular cytogenetics and genomics techniques is essential for research, diagnosis and prognosis, in order to identify genetic alterations and epigenetic patterns associated to the development and progression of the disease.
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Ilda Patrícia Tavares da Silva Ribeiro, Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de Coimbra
Ilda Patrícia Tavares da Silva Ribeiro (PhD) is a researcher at the Center for Research in the Environment, Genetics and Oncology of the Faculty of Medicine of the University of Coimbra, since 2010. Her main research interests are: Genomics and Epigenetics; Oncobiology and the "Omicas" in Cancer; Biomarkers of prognosis in Head and Neck Cancer; Translational Research on Head and Neck Cancer and Human Genetics, Cytogenomics and Molecular Mechanisms in Cancer Since 2009 in Genetics and Biotechnology from the University of Trás-os-Montes and Alto Douro and Mestre, since 2011 in Molecular Genetics by Universidade Minho. He is currently finishing his PhD in the scope of the Interuniversity PhD Program in Aging and Chronic Diseases (PhD OC), being FCT Fellow (Foundation for Science and Technology).
Isabel Maria Marques Carreira, Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de Coimbra
Isabel Maria Marques Carreira is a Associate Professor with Aggregation at the Faculty of Medicine of the University of Coimbra (FMUC) and director of the Laboratory of Cytogenetics and Genomics at FMUC since 1992. She holds a degree in Human Genetics from the University of Witwatersrand, South Africa, of Medicine of Coimbra. She is a specialist in Human Genetics from the Ministry of Health, the Order of Biologists and a European specialist in Clinical Laboratory Genetics from the European Board of Medical Genetics. She is currently deputy director at FMUC, Vice-President of the Clinical Laboratory Genetics specialty of the European Board of Medical Genetics, Co-coordinator of the European Cytogenetics Association working group, and Coordinator of CIMAGO Environment, Genetics and Oncology).
Joana Barbosa de Melo, Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de Coimbra
Joana Barbosa de Melo is a professor at FMUC and since 2010, she is responsible for the Cytogene-Array area of her Laboratory of Cytogenetics and Genomics, where she provides assistance. He graduated in Pharmaceutical Sciences in 1997 from the Faculty of Pharmacy of the University of Coimbra (UC). In 2001, he completed his master's degree in Cell Biology at UC's Faculty of Science and Technology, and in 2011 he received a PhD in Biomedicine in Biology, Cytogenetics and Genomics from the Faculty of Medicine of UC (FMUC). He is a European specialist in Clinical Laboratory Genetics, recognized by the European Board of Medical Geneticists. Since 1998, he has been a member of the Center for Neurosciences and Cell Biology and, since 2013, an integrated member of CNC.IBILI. In addition, she is a researcher at the Center for Research in the Environment, Genetics and Oncology at the Faculty of Medicine of the University of Porto since 2009. In 2016 she presided over the Portuguese Society of Human Genetics, and is currently vice-president and member of its Scientific Committee.