The course aims to provide the educational and methodological bases that allow to understand the normal and pathological genetic variability in humans. Another aim of the course is to provide basic knowledge of the structure of the human genome and the molecular mechanisms underlying the processes that regulate gene expression.
Expected learning outcomes
At the end of the course, the student will have acquired: - the most recent methods of cytogenetics and analysis of the structure of the human genome; - the theoretical and conceptual bases of human genetics and of genetic diseases - the main molecular mechanisms related to the control of gene expression
Lesson period: Second semester
(In case of multiple editions, please check the period, as it may vary)
Mendelian inherited diseases Chromosomes structure and abnormalities Cytogenetic techniques and diagnosis of genetic diseases Human genome structure and organization Human genome sequencing Multifactorial traits and complex diseases Muscle diseases Triplet repeats expansion disorders Epigenetics and gene expression regulation X chromosome inactivation Genetic imprinting and diseases Embryonic and pluripotent stem cells and the study of genetic diseases Genetics of cancer miRNA involvement in human diseases PCR/real time PCR and applications in human genetics
Reference Material -Genetica Umana molecolare T. Strachan, A. Read. Zanichelli -J.J.Pasternak GENETICA MOLECOLARE UMANA Zanichelli -M.R. Cummings EREDITA' Principi e problematiche della genetica umana. EdiSES -Il Gene X Lewin et al. Article and slides used in the classroom with be available in the Ariel portal.
Assessment methods and Criteria
Very good knowledge and background in molecular biology and genetics are required. Evaluation assessment will be performed through a written exam, in which students will be asked to respond to three questions on different topics of the course.