·      Curiosity: the desire to discover the potential of genetics in medicine (... 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

Prof. Doutor José Rueff Tavares


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”, 8th edition. Saunders, 2016Lewis R. “Human Genetics: Concepts and Applications”.  9th edition. McGraw-Hill Companies Incorporated. 2009.

· Lewis R. “Human Genetics: Concepts and Applications”.  12th edition. McGraw-Hill Education 2018

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

· Passarge E. “Color Atlas of Genetics”. 3rd edition. Thieme Medical Publishers, 2007.

· 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.




Pesquisa Bibliográfica Geral



National Library of Medicine


Bases de Dados de Genética

Base de dados de mutações em p53


National Center for Biotechnology Information

Tools of Genetics and Molecular Biology

OMIM - Online Mendelian Inheritance in Man

Human Genome Resources

Martindale's Health Science Guide


Information for Genetic Professionals

Clinical Genetics Homepage

Cytogenetics Gallery


Teaching method

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

2) Thematicals Theorics Lectures: analysis and discussion of specific topics with practical interest

3) Practicals: lab tecnics execution, risk calculation practice and scientific publication analysis



Evaluation method

Written Exam Medquizz (EE) =9,50 = 10 = 80% final classification


No documents / books support allowed. Multiple choice questions on the subjects taught either in lectures or practical classes. 

Written Exam is susceptible to Grade Improvement

Students that failed Genetics last year, with valid Continuous Evaluation (AC) in 2017-2018 are this year exempted from repeating AC.


Admission to written exam request:

•             Evaluation of practicals and/or Seminar =9.50 = 10

Continuous evaluation (AC) = 20% final classification


AC results from the algorithm 0.4*AP + 0.6*S.

AP = Evaluation of practicals is carried out by the professor in charge of the class.

S = classification of the Seminar (S) by a jury of two teachers.


Seminar (S):      presentation / discussion (10 m / 5 m) of one of the proposed topics done by a group of 4-5 students of the same assigned practical class.


Evaluation criteria (S):

•             Critical analysis of the topic

•             Synthesis ability

•             Bibliographic search

•             Scheduled time

Admission to Seminar request:

•             Attendance to 2/3 classes (practical’s lectures)

•             Continuous evaluation has no 2nd opportunity to Grade Improvement.

•             For Students under Special Statute, continuous evaluation (AC) corresponds to the Seminar evaluation.


Final classification of Genetics:               0.8 * EE + 0.2 * AC  (EE and AC =9,50 = 10 )

Subject matter

Structure and Function of genes and Organization of the Human Genome (6H)

  • Organization of genes. Chromatin structure. Coding and non-coding regions.
  • Regulation of gene expression. . Epigenetics.
  • Orthologous and paralogous. Transposable elements.

Genes and Disease (14H)

  • Transmission patterns of autosomal recessive, dominant and X -related situations.. Modifying factors of expression. Clinical presentation and mechanisms of the most frequent mendelian conditions
  • Mutations and pre-mutations; trinucleotide expansion.
  • Multifactorial inheritance.
  • Cancer genetics.
  • Interaction of genes with other genes and environmental factors and role in pathology. Epistasis.

Chromosomes and Chromosomal Pathology (4H)

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

Population Genetics (4H)

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


Programs where the course is taught: