Genetics

Knowledge of general biochemistry, chemistry and cellular biology.

The theoretical classes are aimed at the detailed presentation of the program contents. They use an expositive-active methodology, in which students are invited to participate. In these classes, the students are invited to: discuss terms frequently used in Molecular and Clinical Genetics, with subsequent application in a clinical context; several exercises are performed involving the analysis of different family trees with the identification of the respective hereditary patterns; access different databases (population, disease and variants) as well as perform in silico analysis of different variants in order to clarify their pathogenic nature; present and discuss clinical cases with further analysis and interpretation of the genetic results taking into account the current nomenclature.

The student must acquire knowledge, skills and competences that allow them to:

• Understand the increasing role of Genetics in the diagnosis, prognosis and follow-up of patients followed in different specialties of Medicine.
• Learn the principles underlying different molecular methodologies in order to be able to design / implement the best strategy to be adopted in the laboratory to identify the genetic cause underlying different diseases.
• Distinguish the different types of genetic tests and their respective specificities.
• Validate and critically interpret the results obtained taking into account the recommendations in force regarding the classification of the genetic variants found.
• Understand the clinical implications as well as the applicability of the results of genetic tests.
• Understand the importance of a close relationship between clinicians and the laboratory, in order to guarantee the best health care.
• Develop students’ reasoning and critical thinking.
• Understand the genetic counseling consultation procedures; ethical principles and clinical practice.

Historical notes on the development of Clinical and Molecular Genetics.
– Taxonomy of genetic diseases and the various patterns of inherited transmission.
– Monogenic, chromosomal and multifactorial diseases.
– Non-Mendelian heredity mechanisms (eg. anticipation, mosaicism, uniparental dysomy, genomic imprinting and mitochondrial diseases).
– Methodologies of cytogenetics used for the diagnosis of several diseases.
– Classification of genetic tests (Clinical and Predictive tests), their importance, applicability and legal framework.
– The clinical significance of pathogenic versus benign variants. Classification of the genetic variants found according to the recommendations in force; Nomenclature.
– Genetic counseling procedures, principles and clinical practice.
– Gene therapy. Different genetic engineering methodologies.

NAO

Primary Bibliography :

– Strachan, T., Read, A. P. Genética Molecular Humana. 2ª Ed. Editora Artmed. 2002. 576 p. ISBN 978-85-7307-907-X.

– Regateiro F.J. Manual de Genética Médica. Imprensa da Universidade, Coimbra, 2003. 496 p. ISBN 972-8704-12-7.

– Lewis, R., Genética humana: conceitos e aplicações. 5ª ed. Rio de Janeiro. Guanabara Koogan, 2005. 453, [32] p. ISBN 978-85-277-0891-3.

– Vogel, F, Motulsky, A G. – Genética humana: problemas e abordagens. 3ª ed. Rio de Janeiro: Guanabara Koogan, 2008. 684 p. ISBN 978-85-277-0554-7.

– Griffiths, Anthony J. F. – Introdução à genética. 9ª ed. Rio de Janeiro: Guanabara/Koogan, 2008. 712 p. ISBN 978-85-277-1497-6.

– Azevedo C e Sunkel C E. Biologia Celular e Molecular. 5ª ed. Lisboa: LIDEL. 2013. 629 p. ISBN 978-972-757-692-0.

– Lodish H, Berk A, Matsudaira P, Kaiser C, Krieger M, Scott M, Zipursky S L, Darnell J. Molecular cell biology. 5th ed. New York: W.H. Freeman and Company, cop. 2004. 973, 56 p. ISBN 0-7167-4366-3.