Basic knowledge of formal genetics principles and basic molecular and cellular mechanisms
oral examination
Knowledge of the main genetic and molecular mechanisms involving the inheritance of the man and the techniques of molecular research. Particular interest is focused on human genetics in monogenic diseases and complex models of inheritance.
Structure and DNA replication. Transcription and gene expression. Structure, function and abnormalities in human chromosomes. The genetic code and mutations. Organization and results of the human genome project. Inheritance, and analysis of pedigree. Clinical and genetic characteristics of some pathologies with autosomal dominant, autosomal recessive and X-linked inheritance. Overview of investigation methods in medical genetics: PCR and DNA sequencing, next generation sequencing methods, microarrays techniques. Organization of the human genome. Genetic mapping of Mendelian and complex characters. Approaches and examples of gene identification in human diseases. Genetic Counseling and prenatal diagnosis.
Human Molecular Genetics Authors: T. Strachan, AP. Read Editor: Garland Science
GENETICA MEDICA ESSENZIALE Autori: B. Dalla Piccola, G. Novelli Editore: Il Minotauro
Supplementary material provided by the professor
Lessons face to face
Readiness to offer individual assistance and availability of supporting material and bibliographic references in English to incoming students. Readiness to accept examination of incoming students in English language