Genetics of Inherited Diseases - Population Genetics (7ΕΒ09)
Instructor : Braliou Georgia
Course typeElective
Semester7
TermFall Semester
ECTS5
Teaching hours3
Laboratory hours
Description
Introduction to Epidemiology: Types of Studies, Etiological Models, Effect Measures. Population Genetics: principles of evolution, Hardy-Weinberg equilibrium, SNPs and other polymorphisms. Classical Genetics: Mendel's laws, mono- and dihydrydism, heredity models, sex-linked and holandric genes, family trees, polygenic heredity, penetrance, expressivity. Family studies: Family history, familial aggregation, twin studies. Linkage: Linked Genes, Linkage Disequilibrium (LD), Linkage Analysis, Segregation Analysis, Haplotype Reconstruction. Genetic Association Studies: Case-control, family-based, GWAS. Gene-gene and gene-environment interaction: Epistasis and other models of gene-gene interaction, Interactions and diseases of multifactorial aetiology. Meta-analysis of genetic correlation studies: the concept of meta-analysis, methodology for meta-analysis in various studies’ designs in genetic epidemiology. Databases and software tools for genetic epidemiology. Case studies and examples of human diseases.
Course objectives

 The objectives of the course are to familiarize students with:

  • Basic concepts of classical and molecular Genetics and Population Genetics.
  • The basic principles of the determination of genetic diversity.
  • Applying basic methods of quantification and analysis of genetic diversity.
  • The evolutionary forces shaping the genetic diversity at the molecular level, but also in populations
Textbooks/Bibliography
  • Τίτλος: iGenetics - μια Μεντελική Προσέγγιση, Συγγραφέας: Peter J. Russell, Εκδοτικός Οίκος: Ακαδημαϊκές Εκδόσεις, Τόπος & Χρόνος Έκδοσης: 2009, ISBN: 978-960-88412-7-7, Κωδικός ΕΥΔΟΞΟΣ: 2626
  • Τίτλος: Thompson & Thompson ιατρική γενετική, Συγγραφείς: NUSSBAUM R., McINNES R.R., WILLARD H.F., Εκδοτικός Οίκος: BROKEN HILL PUBLISHERS LTD, Τόπος & Χρόνος Έκδοσης: 8η εκδ./2011, ISBN: 9789604890620, Κωδικός ΕΥΔΟΞΟΣ: 13256587
  • Τίτλος: Εισαγωγή στη Γενετική, Δ΄ Έκδοση, Συγγραφέας: Σταμάτης Αλαχιώτης, Εκδοτικός Οίκος: Λιβάνη, Τόπος & Χρόνος Έκδοσης: 2011, ISBN: 978-960-442-024-7, Κωδικός ΕΥΔΟΞΟΣ: 12469325
Assessment method
The evaluation is mainly done by written examination at the end of the semester. Additionally, written assignments and / or oral presentations are co-evaluated.
Course material
Lectures in the classroom using multimedia tools (ppt presentations, video, live-stream lectures) Consolidation exercises during the lectures Material in e-class (lectures power-point, suggested exercises) Additional recommended readings