The knowledge of general principles of genetics, how they operate in humans, and their implications for individuals and for society.
Upon course completion, the students will have familiarized themselves with the basic principles of human genetics and trained - in theory and by practice - on the basic methods applied for the understanding of the molecular basis of genetic syndromes and inherited disorders in humans. In addition, they will be able to understand the contribution and the importance of genetic analysis in prevention and early diagnosis (preventive, presymptomatic, carrier control), as well as the co-evaluation of the genetic and clinical information in the context of genetic counseling. Lastly, the students will be presented current topics of genetics and genomics that raise bioethical issues (pre-implantation diagnosis, gene therapy, cloning, genome editing, etc).
Course Content (Syllabus)
The human genome: structure and function of genes and chromosomes, Tools of human molecular genetics, Principles of clinical cytogenetics, Patterns of single-gene inheritance, Genetics of complex disorders, Mutation and polymorphism, Mapping of the human genome, Hemoglobinopathies, The molecular, biochemical and cellular basis of genetic disease, The treatment of genetic disease, Genetic aspects of development, Prenatal diagnosis, Cancer genetics and genomics, Personalized medical genetics, Genetic counseling and risk assessment, Pharmacogenetics and pharmacogenomics, Ethical issues in genetics
Genetics, genomics, DNA, chromosomes, inheritance, syndromes, disorders
Course Bibliography (Eudoxus)
Α. Thompson & Thompson - Ιατρική Γενετική (επίτομο), Συγγραφείς: Nussbaum, McInnes, Willard, 2η έκδοση (2011), Εκδόσεις: Π.Χ. Πασχαλίδης, Αθήνα, 2011.
Β. Γενετική: Από τα γονίδια στα γονιδιώματα (επίτομο), Συγγραφείς: Hartwell, Hood, Goldberg, Reynolds, Silver, 1η έκδοση (2013), Εκδόσεις: Utopia Εκδόσεις ΕΠΕ, 2013.