Curricular Unit:			Code:
Medical Genetics			845GMED
Year:	Level:	Course:	Credits:
2	Undergraduate	Nutrition Sciences	4 ects
Learning Period:		Language of Instruction:	Total Hours:
		Portuguese/English	52
Learning Outcomes of the Curricular Unit:
Know and understand the basic aspects of: (i) structure, function and control of genetic material in health and disease, (ii) hereditary, (iii) prevention, diagnosis and treatment of genetic diseases, and related bioethical issues and regulations as well, and (iv) nutrient-gene interactions in human health, genome evolution and disease. Apply the knowledge to the identification and interpretation of: (i) genetic disease, (ii) nutrient-gene interaction, and (iii) influence of nutrition in development, prevention and treatment of genetic diseases. Select, collect and analyse of genetic and bibliographical data; Preparation and communication of technical and scientific information. Skill acquisition for the application of this knowledge in the future professional practice, namely: (i) appropriate information and communication technologies usage, (ii) coherent scientific decisions and interventions, and (iii) continued knowledge development.
Syllabus:
I. Theoretical - Historical perspective of Genetics and Human Genetics; Cellular and basic molecular aspects of inherited conditions; Genetic variability, evolution and individual susceptibility; Chromosomal alterations; Types of inheritance; Population genetics; Prevention and treatment approaches of genetic conditions; Ethical, legal and social issues. II. Practical – Theoretical-practical: Bibliography search techniques and tools; DNA recombinant technology; Basic analysis of gene sequences using bioinformatics tools; Interpretation of data of genetic tests of individuals and populations. Laboratory: Isolation of genomic DNA, DNA analysis by spectrophotometry and electrophoresis, and mutational screening by PCR and PCR-RFLP. Seminar: Oral presentation of a bibliographic review work.
Demonstration of the Syllabus Coherence with the Curricular Unit's Objectives:
The interconnection and complementarity between the two components promotes and improves: (i) the knowledge on Human Genetics and the comprehension about the relation between genetics and nutrition, in health and disease, (ii) the ability to implement basic techniques and interpret experimental data, (iii) the analysis and understanding of scientific literature, (iv) the development of scientific reasoning, (v) the apprehension and communication of technical-scientific information, (vi) the autonomy necessary for the continuous improvement of knowledge, e (vii) the ability to correctly interpret genetic data and properly value it in future professional practice . In this way, it is concluded that the content of the program is in line with the learning objectives in terms of knowledge, skills and competences. Integrated acquisition of these learning goals aims to improve the adaptability of the future professional to situations implying genetic etiology issues.
Teaching Methodologies (Including Evaluation):
I. Theoretical component: Comprises theoretical classes and approval is certified by 4 written tests (25% each, average rating of at least 10/20, weighing 70% of the final grade). If not approved, student may perform exam at the end of the semester. The exam lasts 2 hours and covers the entire program. II. Practical component: Comprises practical classes, laboratorial classes and seminars. Approval for the practical component is certified by 4 written tests (10%), students’ performance (10%) and a seminar. The seminar consists of oral presentation and discussion of a bibliographic research work (10%, written work 5% and oral presentation 5%). The approval imply to get at least 10/20 (weighing 20% of the final grade). Teaching material and scientific articles or other free use materials will be available through e-learning.
Demonstration of the Coherence between the Teaching Methodologies and the Learning Outcomes:
I. Theoretical component: The component is developed from a descriptive and integrated exposition of the concepts, theories and mechanisms underlying the theoretical program. Its progression occurs in articulated way with the didactic material and the bibliography, and includes moments for joint reflection on key aspects of the programmatic content. For the acquisition of knowledge, direct and indirect teaching methodologies are applied, which simultaneously promote a broad and integrated level of understanding and the improvement of self-learning. II. Practical component: Learning is based on practical problem solving, using experimental, bioinformatic or theoretical-practical approach. This strategy allows the student to develop the ability to: (i) relate concepts, (ii) operate in a laboratory environment, (iii) laboratory reasoning; (iv) analyse, interpret and validate technical-scientific information, and (v) oral and written communication of scientific information. Self-learning is also stimulated through the development of a bibliographic research work by groups of 2-3 students. The themes (or scientific papers) will be selected from a list designed to illustrate the interrelation genetics-nutrition. After its revision by teachers, the works are presented orally by students, discussed in terms of their structure and technical-scientific content, and classified. The accomplishment of this task allows the student to develop specifically: (i) autonomy in the processes of selection, analysis, critical interpretation and systematization of scientific literature, (ii) communication and discussion of scientific information, and (iii) ability to independently update knowledge. Courseware, including computer-aided teaching material and supporting texts (eg Exercise Manual with scientific background, learning objectives for each module of the theoretical program and solved exercises, and Practical-Laboratory Handbook, both developed by teachers), and scientific articles or articles of free use will be available through e-learning. In addition to the contact hours of the academic periods of the course, the learning process can be complemented during the office hours of the teacher, or using the tools of digital institutional communication (e-mail and e-learning). The simultaneous use of these institutional computing resources for the dissemination of either didactic material or scientific literature also represents an important contribution to the promotion and stimulation of the self-learning process.
Reading:
Cardoso IL., Cabeda JM., Ribeiro MG. 2012. “Manual de Trabalhos Práticos de Genética”. Edições da UFP. ISBN:978-9896430979. Krebs JE, Goldstein ES., Kilpatrick ST. 2017. “Lewin’s Genes XII”. Jones and Bartlett Learning. ISBN:978-1284104493. Lewis R. 2014. Human Genetics: concepts and applications. 11st ed., McGraw Hill. ISBN:978-0073525365.