Genetics of Inherited Diseases – Population Genetics

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 dihybrid cross, 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.

 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

• iGENETICS ΕΠΙΤΟΜΗ ΕΚΔΟΣΗ, Peter Russell, ΑΚΑΔΗΜΑΪΚΕΣ ΕΚΔΟΣΕΙΣ Ι. ΜΠΑΣΔΡΑ & ΣΙΑ Ο.Ε., 1η/2013, ΑΘΗΝΑ, 33133214
• “Thompson & Thompson ιατρική γενετική”, NUSSBAUM R., McINNES R.R., WILLARD H.F., BROKEN HILL PUBLISHERS LTD, 8η/2011, ΑΘΗΝΑ, 13256587

The evaluation is mainly done by written examination at the end of the semester. Additionally, written assignments and / or oral presentations are co-evaluated.

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