· 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.
Professor Doutor José Rueff
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· 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.
1) Main Lectures: critical exposure of the contents of the course
2) Theoretical-Thematical Lectures: analysis and discussion of specific topics with practical interest
3) Evaluation.: written examination and presentation and defence of a Seminar on a topic of the syllabus
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
- 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
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: