The course provides an updated overview of human geneticsin order to provide the specific knowledge required for students of master. The content is intended to explain the mode, molecular mechanisms of genetic information transmission across generations, as well as causes of various hereditary diseases. In addition, the course includes techniques used to exploit the human genome and their use in gene therapy
I. Reminder of genetic bases.
II. Clinical cytogenetics: chromosomal human diseases; Human chromosomal abnormalities and clinical phenotypes.
III. Modes of inheritance, genetic diseases related to the transmission.
IV. Genetic variation: origin and mutation detection.
V. Genetic testing, molecular tools for screening and diagnosis of hereditary diseases.
VI. Human genome: structural genomics, functional and comparative.
VII. Physical and genetic mapping of candidate genes. Positional cloning
VIII. Gene therapy: methods (viral and non-viral), study of certain diseases treated by gene therapy.
IX. IX. Clinical gene and genetic advise.