Master in Laboratory Medicine

Human Molecular Genetics



Learning outcomes

This unit aims to teach and to transfer competence to the student in order to:

  • understand the molecular characteristics of human genome and their relationships with functional properties
  • apprehend the strategies used for the molecular characterization of human genome
  • know the applicability of molecular genetics techniques, namely for the localization and identification of human disease­causing genes
  • be aware of new methodologies for genomic and proteomic analysis, genetic manipulation of cells and animals and new approaches for prevention and treatment of genetic diseases
  • perceive the human genome as a dynamic entity which varies along time and to understand the processes underlying those variations
  • get acquainted with the updated scientific literature and the vast genetic and biomedical resources available at the internet


Genes as determinants of inherent properties of species
Model organisms
Genes, environment and organism
DNA structure and gene expression
Chromosome structure and function
Genes in pedigrees and populations
Molecular organization of human genome
Control of gene expression
Instability of human genome and origin of genetic variation
Genetic mapping of human characters
Molecular pathology and genotype­phenotype correlation
Cancer genetics
Genetic testing in individuals and populations
Genetic manipulation of cells and animals
New approaches to treating disease

Classroom practices:
Analytical methodologies
Selection of biological samples
Molecular characterization of genetic diseases and their correction
Involvement of epigenetic mechanisms upon regulation of gene expression and its relationship with genetic disease

Laboratory practices:
Preparation of biological samples: DNA, RNA and proteins
Mutation identification: screening and targeted methods