Curricular Unit:			Code:
Medical Genetics			146GMED
Year:	Level:	Course:	Credits:
3	Undergraduate	Clinical Analyses and Public Health	2 ects
Learning Period:		Language of Instruction:	Total Hours:
		Portuguese	26
Learning Outcomes of the Curricular Unit:
The unit aims at giving the student the opportunity to develop its knowledge on the way genetics explains: - heredity fenomena both of organisms and its cellular constituents - relation of genetic and epigenetic fenomena with cellular phisiology - Utility of molecular techniques for dignosis of hereditary diseases, genetic risk factors for family associated diseases, genetic diseases of somatic cells and infectious diseases. - The student should also be able to develop result interpretation skills relevant to the clinical molecular biology lab.
Syllabus:
The course will include the basic aspects of molecular genetics, from the discovery of the genetic material, its various forms, composition, structure, cellular distribution and organization, to the molecular mechanisms of genetic information preservation, genetic expression regulation, transcription and translation. The course will also cover Mendel’s laws of heredity and its extensions. Finally, the concepts of human and Molecular Genetics will be used to discuss pratical applications of Medical genetics.
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 transmission, changes in the genome and how can they occur, processes of gene expression, technology used to manipule nucleic acids.
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, that will allow them to develop their critical spirit. The evaluation of the course includes, in addition to continuous assessment, student lab performance.
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.
Reading:
- Regateiro F.J., 2007, “Manual de Genética Médica”, 1ª. Edição - 2ª reimpressão, Imprensa da Universidade de Coimbra. - Cardoso IL., Cabeda JM., Ribeiro MG. 2012. Manual de Trabalhos Práticos de Genética. Edições da Universidade Fernando Pessoa. - Cabeda JM., Moreno ACA.(2014) Sequenciação de Ácidos Nucleicos em Biomedicina. Edições da Universidade Fernando Pessoa.