• 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.
• Emery A, Rimoin D. “Principles and Practice of Medical Genetics" - 3 vols. 5th edition. Churchill Livingstone, 2007.

Teaching method

Due to the exceptional situation determined by the need to adapt the pedagogical response to contingency plans, in the face of the pandemic crisis of COVID-19, the following measures will be adopted in the Genetic Course, in the Degree in Nutrition Sciences:
1) Theoretical and theoretical-thematic classes will be taught through distance learning, ensuring the safety measures imposed by the contingency plan of the FCM / NMS.

Evaluation method

2) 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 karyotype
• 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 and trinucleotide repeated diseases
 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: