Master in Biopharmaceutical Sciences

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 disease-causing 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


On the scope of this curricular unit, the following themes will be focused:

Human genome: structure, organization and control of gene expression
Origin of genetic variation: mechanisms underlying genome alteration and their consequences
Patterns of inheritance: mendelian and complex
Molecular pathology and genotype-phenotype correlation
Molecular diagnosis: genetic tests in individuals and populations
New approaches to treating genetic diseases

Analytical strategies for studying different types of pathology
Evaluation of gene expression at transcriptional and translational levels
Mutations’ identification and characterization by sequence analysis
Use of bioinformatics tools for experiments’ design and interpretation of their results

Isolation and purification of nucleic acids from different types of biological samples
Methods for mutation screening
Methods for targeted mutation search