·      Curiosity: the desire to discover the potential of genetics in medicine and nutritional sciences (... wonderful and full of wonder).

·      Comprehension: understand and master genetic mechanisms and their role in pathology.

·      Competence: knowing how to apply models and methods of genetics to new situations.

·      Capabilities: the ability to perform experimental tasks and search for information.

Creativity: find grounds to criticize the assumptions and learn how to found new explanatory hypotheses of genetic phenomena.


General characterization





Responsible teacher

Professor Doutor José Rueff


Weekly - Available soon

Total - Available soon

Teaching language





· Speicher M, Antonarakis SE, Motulsky AG (Eds.) “Vogel and Motulsky's Human Genetics. Problems and Approaches” Springer Verlag, 4th ed., 2010.

· Strachan T, Goodship J., Chinnery P. “Genetics and Genomics in Medicine”. Garland Science, 2015.

· Strachan T, Read A.P. “Human Molecular Genetics”, 4th edition. Garland Science, 2010.

· "Preventive and Predictive Genetics: Towards Personalised Medicine". Editors: Grech, Godfrey, Grossman, Iris (Eds.); Springer; Series: Advances in Predictive, Preventive and Personalised Medicine, Vol. 9, 2015

· Nussbaum RL, McInnes RR, Willard HF. “Thompson & Thompson Genetics in Medicine”, 7th edition. Saunders, 2007.

· Lewis R. “Human Genetics: Concepts and Applications”.  9th edition. McGraw-Hill Companies Incorporated. 2009.

· Ellard S, Turnpenny P. “Emery's Elements of Medical Genetics”. 14th edition. Churchill Livingstone, 2011.

· Regateiro FJ. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2007.


Teaching method

1) Main Lectures: critical exposure of the contents of the course

2) Theoretical-Thematical Lectures: analysis and discussion of specific topics with practical interest



Evaluation method

3) Evaluation.: written examination and presentation and defence of a Seminar on a topic of the syllabus

Subject matter

Structure and Function of genes and Organization of the Human Genome

  • Genome Organization. Chromatin structure. The cariotype
  • Regulation of gene expression. Epigenetics
  • Transposable elements and repetitive sequences

Genes and Disease

  • Transmission patterns of autosomal recessive, dominant and X -related situations. Clinical presentation and mechanisms.Modifying factors of expression
    • Metabolic conditions
    • Rasopathies
    • Cancer genetics
    • Organ diseases
  • Mutations and pre-mutations. Trinucleotide expansion diseases
  • Multifactorial inheritance. Interaction of genes and with environmental factors and role in pathology

Chromosomes and Chromosomal Pathology

  • Mechanisms of chromosomal alterations
  • Numerical and structural chromosomal abnormalities, and mosaics. From cytogenetics to the clinical  presentation

Population Genetics

Gene frequencies. Allelic frequencies and genetic drift. Effect of inbreeding and neo-mutations in frequency. Evolutionary principles to understand human biology and pathology



Programs where the course is taught: