Cognitive: The study of the human genome organization, the molecular basis of genetic diseases and the familiarization with modern techniques for the human DNA analysis.
Affective: Awareness of the laboratory diagnosis and future treatment of genetic diseases through the knowledge of recent applications of genetics.
Skills: Design and application of laboratory genetic techniques for the diagnosis of human diseases.
Course Content (Syllabus)
The human genome. Human genes mapping. The human karyotype, abnormalities of chromosome number and structure. Sex determination. Single
gene diseases. Haemoglobins and haemoglobinopathies. Inborn errors of metabolism. Genetics of diseases with multifactorial inheritance.
Pharmacogenetics. Genetic aspects of development. Genes in populations. Prenatal diagnosis and population screening. Genetic counselling. The treatment of genetic diseases.
Human karyotype analysis. Detection of blood groups. DNA extraction from human blood. PCR based DNA analysis for the detection of sickle cell disease or cystic fibrosis carriers. Analysis of polymorphic genetic markers.