Genetics

The intended are the following:
– The perspective of the hereditary nature of a pathological condition and the respective mode of heredity;
– Comprehension of the main chromosomal syndromes and genetic diseases;
– Recognition of the interactions drug-gene and diet-gene;
– Interpretation of genetic tests and its limitations;
– Critical review of scientific literature relevant for research in the field of expertise.
At the end of this curricular unit, students should be able to:
– Make evidence of a genetic basis of knowledge sufficient to understand the the biological systems in the human organism and also of the transfer of characteristics among individuals;
– Know the principles underlying the use of the various analytical methods for the molecular study of the genome and of mutations;
– Understand the fundamentals of the development of pharmacogenetics/pharmacogenomics;
– Undertake advanced search in databases of scientific literature and critically review it.

Theoretical
INTRODUCTION-1h
Syllabus, bibliography and teaching assessment
Diagnosis of previous knowledge
MOLECULAR GENETICS-2h
DNA informational molecule
DNA structure
Genes and genome
DNA replication, transcription and translation
REGULATION OF GENE EXPRESSION-2h
Regulation at DNA replication level, of DNA transcription, translation to protein, post-translation
Retroregulation of gene expression
HUMAN DIVERSITY. MUTATIONS. DNA REPAIR-4h
Genetic basis of human diversity
DNA mutations
DNA repair
METHODS OF STUDY FOR THE HUMAN GENOME-2h
FAMILIAL HISTORY-3h
POPULATION GENETICS-4h
Allele, genotypic and phenotypic frequency
Hardy-Weinberg eqwuilibrium/applications
PHARMACOGENETICS AND PHARMACOGENOMICS. GENETIC THERAPY-4h
Genetic polymorphisms
REGULATION GENES IN CELLULAR PROLIFERATION. APOPTOSIS. SENESCENCE-2h
GENES AND CANCER-2h
GENETIC COUNSELLING AND ETHICS IN GENETICS-2h
Theoretical-Practical
DATABASE RESEARCH-15h
Analysis, discussion of scientific papers in the field of expertise

NAO