Universidade Nova de Lisboa

Universidade Nova de Lisboa

NOVA Medical School | Faculdade de Ciências Médicas

Genetics

Code

41009

Academic unit

Faculdade de Ciências Médicas | NOVA Medical School

Department

CMS - Ciências Médicas e da Saúde

Credits

3

Teacher in charge

Professor Doutor José Rueff

Teaching language

Portuguese

Objectives

·      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.

 

Prerequisites

 

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

 

Bibliography

· 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

Courses