Application of modern genetics to human variability, health and disease. Molecular origin of Mendelian and multifactorial diseases. The use of polymorphisms, gene mapping, linkage and association studies in medical genetics. Genetic diagnosis: application of cytogenetic, molecular and genomic techniques. Congenital abnormalities, risk assessment and genetic consultation. Prenatal testing, population screening, treatment of genetic diseases and gene-based therapy. Pharmacogenetics and cancer genetics. Ethical aspects in medical genetics.