Curricular Unit:Code:
Medical Genetics841GMED
2MasterDentistry4 ects
Learning Period:Language of Instruction:Total Hours:
Winter SemesterPortuguese/English52
Learning Outcomes of the Curricular Unit:
Makes a detailed discussion of the biological importance of DNA as genetic material, its fulcral role in biological processes, and its fundamental importance in the determination of organism traits and in genetic transmission. It focuses on the main mechanisms involved in events that lead to perpetuation of life - replication, transcription and translation - in prokaryotes and eukaryotes. The course also introduces the causes of genetic changes and the cellular systems of repair of those changes, as well as the regulation of genes expression in prokaryotes and eukaryotes.
It also relates genetic transmission with the laws that govern the transmission of traits from parents to decendents. Explains the several types of mendelian and polygenic heritage, linked or not to sex, with or without the influence of other factors besides the genome.
Introduction. Genetic material: structure and replication. Structure of DNA and chromosomes and replication. Chromosomic mutations and associated diseases. Molecular properties of genes. Transcription and RNA modifications. Translation. Regulation of gene expression in prokaryotes and eukaryotes. Gene mutation and DNA repair. Types of inheritance. Trait transmission: Mendelian inheritance. Extensions and exceptions to Mendel laws. Relation to sex. Genetic analysis of individuals and populations. Quantitative genetics. Population genetics.
Recombinant DNA techniques. Biotechnology.
Demonstration of the Syllabus Coherence with the Curricular Unit's Objectives:
The syllabus comprising the curricular unit will meet the requirements that are set out in the objectives, and it provides students with the necessary lessons (concepts, techniques, methodologies) to be able to achieve the objectives set out above.
All information provided aims to sensitize students to the importance of types of genetic disorders transmission and how to identify them, as well as, detailed kwowledge about nucleic acid structure and their role in the organism.
Teaching Methodologies (Including Evaluation):
The methodologies used are lecture, inductive and deductive methods. Also the methodology is used for educational simulation, this is the teaching/learning process is performed in conditions close to laboratory reality. Students will solve practical cases, which are similar to situations they will have in your professional life, which will, using various analytical techniques, develop their critical spirit.
The evaluation of the course includes, in addition to continuous assessment, student lab performance.
70% theoretical (2 tests) and 30% lab evaluation
Demonstration of the Coherence between the Teaching Methodologies and the Learning Outcomes:
The objectives of the curricular unit are achieved by the use of the methodology referred since the expository component provides guidance on the systematic study and the practice exercitation promotes the practical application of concepts and theories studied within the curricular unit. In addition, the use of a set of materials study purposely created, as well as support sessions to clarification of doubts and activities for knowledge assessment, allow a high level of fit between the methodologies and objectives of the curricular unit. The adoption of the proposed methodologies will enable students to: acquire knowledge; discover working methods to be used; take professional behaviors, to detect the importance of activity in a laboratory context; apply knowledge in new situations, or raise an ongoing discussion in classes.
(1) Brooker R.J., 2012, “Genetics: analysis and principles”, 4.ª edição, McGraw Hill.
(2) Griffiths A.J.F. et al., 2007, “Introduction to genetic analysis”, 9.ª edição, Freeman and Company, New York.
(3) Lewis R., 2012, “Human Genetics: concepts and applications”, 10.ª edição, McGraw Hill.
(4) Read A., Donnai D., 2007, “New Clinical Genetics”, 1.ª edição, Scion Publishing Ltd.
(5) Regateiro F.J., 2003, “Manual de Genética Médica”, 1.ª edição, Imprensa da Universidade de Coimbra.
(6) Turnpenny P., Ellard S, 2017, “Emery's Elements of Medical Genetics”, 15ª edição, Elsevier.
Lecturer (* Responsible):
Inês Lopes Cardoso (
José Cabeda (
Maria Gil Ribeiro (
Rúben Fernandes (