Learning Outcomes
The knowledge of general principles of genetics, how they operate in humans, and their implications for individuals and for society: Students become familiar with the basic principles of human genetics - through both theoretical and practital training - on the methods applied for the understanding and diagnosis of genetic disorders and inherited syndromes in humans.
Course Content (Syllabus)
The human genome: structure and function of genes and chromosomes, Tools of human molecular genetics, Principles of clinical cytogenetics, Clinical cytogenetics, Patterns of single-gene inheritance, Genetics of disorders with complex inheritance, Mutation and polymorphism, Gene mapping of human genome, Hemoglobinopahties, The molecular, biochemical and cellular basis of genetic disease, The treatment of genetic disease, Genetic aspects of development, Prenatal diagnosis, Genetic and cancer, Personalized medical genetics, Pharmacogenetics and pharmacogenomics, Genetic counseling and risk assessment
Keywords
Medical genetics, DNA, genes, chromosomes, inheritance, mutation, genetic variation, inherited syndromes, genetic disorders
Course Bibliography (Eudoxus)
Α. Thompson and Thompson Ιατρική Γενετική, Συγγραφείς: Nussbaum, McInnes, Willard. Ιατρικές Εκδόσεις Πασχαλίδης, Αθήνα, 2011.
Β. Γενετική: Από τα γονίδια στα γονιδιώματα, Συγγραφείς: Hartwell, Hood, Goldberg, Reynolds, Silver. Εκδόσεις Utopia, Αθήνα, 2014.