Basic knowledge of formal genetics principles and basic molecular and cellular mechanisms
Knowledge and understanding of the fundamental genetic and molecular mechanisms involving human inheritance and hereditary diseases. Ability to establish the role of genetics, and the molecular investigation techniques, in human monogenic pathologies and in complex inheritance models .
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