What is a mutation and by what events can be caused? The mechanisms of DNA repair and surveillance of the human genome. Genetic variants: classifications and typologies. Differences between genetic variants involved in Mendelian diseases and complex diseases.
The Human Genome Project and the use of human genome sequencing for the characterization of genetic variability. The ENCODE project. The next-generation sequencing and its clinical applications. International databases and the information that can be obtained from them. Genotyping methods and their applications. Principles of integrated use of sequencing and genotyping data, through statistical inference, in the search for disease-genes
Monogenic diseases: history in the light of the family tree; definition, construction and study of family trees. Calculation of the risk of recurrence of a genetic disease.
Exceptions to Mendelian inheritance linked to modifying genes: problems related to the interpretation of genealogical trees. Variable expression and incomplete penetration. Genetic heterogeneity of locus and allele. Digenic and triallelic inheritance. Diseases with late onset and anticipation (E.g. Huntington''s Korea). Germinal and somatic mosaicism. Mitochondrial inheritance (examples of mitochondrial diseases). Mechanism of imprinting and defects.
Multifactorial diseases, quantitative and semi-quantitative characters. Evaluation of the genetic component in complex diseases. Strategies for the identification of susceptibility genes. Association studies on the whole genome.
Genetics and new therapies.
The contribution of genetics in the search for new therapeutic targets. From "experiments of nature" to new therapeutic hypotheses.
Nods of Pharmacogenomics.
Use of databases in Genetic Medicine: The information tool for real-time knowledge of the latest information and access to databases with particular regard to the use of OMIM (On line Mendelian Inheritance in Man).
Genetic Screening, Genetic Consultation, Hints of Molecular Diagnostics: Molecular Diagnosis of a Genetic Disease. Prenatal Diagnosis.