HUMAN MOLECULAR GENETICS
Learning outcomes of the course unit
The current integration of Human Genetics with molecular biology and bioinformatics gives indications of a future full of promise for biological research and, consequently, for potential applications to Medicine and Biotechnology. This course, aimed at students of an advanced degree in Molecular Biology and in Biology and Biomedical applications, deals with molecular characterization, organization and regulation of the human nuclear and mitochondrial genome.
Since the most interesting of the applicative aspects obviously regard human health, special attention will be given to developing the molecular aspects of monogenic and complex diseases and basic information on the instability of the human genome (mutation and repair) and on some currently fast growing sectors such as: pharmacogenetics (which studies, in individuals or in populations, variability in the response to drugs due to genetic factors), cancer genetics (linked to the discovery of the increasingly close relationship between somatic mutations and neoplasias) and finally to the exciting field of human gene therapy that it is hoped will gain further impetus from the increasingly prompt information coming from the identification of the sequence and function of human genes (Human Genome Project).
Course contents summary
The Human Genome project: cultural and organizational aspects - how the human genome was mapped and sequenced - genome project for model organisms.
Organization of the human genome: nuclear and mitochondrial genome - organization, distribution and function of human genes (which code RNA and polypeptides) - non-coding DNA with tandem or interspersed repeats.
Expression of the human gene: transcriptional regulation of gene expression - post-transcriptional regulation - epigenetic mechanisms and remote control - organization and particular expression of immunoglobulin and TCR genes.
Instability of the human genome: DNA mutation and repair, simple mutations - genetic mechanisms that produce sequence exchanges between DNA repeats - pathogenic mutations - pathogenic potential of repeated sequences - DNA repair.
Genetic diseases in man: mutations with loss of function - mutations with gain of function - the effects of gene dosage - molecular pathology: from the gene to the disease and from the disease to the gene, chromosome diseases - somatic mutations and neoplasias: oncogenes and tumour suppressor genes, genome stability and cell cycle control.
Pharmacogenetics: genes involved in pharmacokinetics and pharmacodynamics - polymorphisms in the genes that affect drug availability - genetic polymorphisms of receptors and repair systems - molecular strategies for optimizing pharmacological therapy
Gene therapy: the different strategies for gene therapy - gene therapy for hereditary diseases, neoplasias and infectious diseases - ethics of gene therapy in man.
P. SUDBERY - Genetica Molecolare Umana - Zanichelli
T.STRACHAN, A.P.READ - Genetica Umana Molecolare - UTET J.J.PASTERNAK - Genetica Umana Molecolare - Zanichelli
E.H.McCONKEY - Genetica Umana. Una prospettiva molecolare - Zanichelli
P.LOLLINI, C.DE GIOVANNI, P .NANNI - Terapia genica - Zanichelli
P.PARHAM - Immunologia - Zanichelli
B.LEWIN - Gene X - Pearson Education International
Assessment methods and criteria