Curricular Unit:Code:
Medical Genetics1080GMED
2UndergraduateNutrition Sciences4 ects
Learning Period:Language of Instruction:Total Hours:
Winter SemesterPortuguese/English52
Learning Outcomes of the Curricular Unit:
OA1.Understanding the structure, function and control of genetic material.
OA2.Understanding and explaining the dynamics of gene expression regulation through genetic and epigenetic concepts.
OA3.Understand the molecular and cellular basis of gene and chromosome alterations.
OA4.Understand and explain the characteristics of Mendelian and non-Mendelian heredity.
OA5.Understand, explain and implement strategies for diagnosis and treatment of genetic diseases.
OA6.Understand, explain and realize nutrient-gene interactions.
OA7. Applying knowledge in the identification and interpretation of genetic diseases.
OA8. Identifying and interpreting the role of nutrition in the prevention, development and treatment of genetic diseases.
OA9. Applying knowledge in the analysis and communication of scientific information of genetic field.
OA10- To provide scientifically coherent decision-making and interventions.
CP1 - Basic cellular and molecular aspects of heredity.
CP2 - Genetic variability, evolution, and individual predisposition.
CP3 - Types of heredity, human characteristics and pathologies.
CP4 - Basic aspects of population genetics.
CP5- Diagnosis, prevention and treatment of genetic diseases.
CP6- Strategies commonly used in CP5 (practical-laboratorial).
CP7- Role of bioinformatics in the genomic and post-genomic era (laboratory practice).
CP8- Ethical, legal and social aspects associated with CP5.
Demonstration of the Syllabus Coherence with the Curricular Unit's Objectives:
Through the pedagogical implementation of specific contents the following learning objectives are achieved:
CP1 – All objectives, specifically OA1-OA6.
CP2 - OA3 to OA8.
CP3 - OA4 to OA10.
CP4 - OA4 and OA5.
CP5 - OA5 to OA10.
CP6- OA3 and OA7.
CP7- OA7, OA9 and OA10.
CP8- OA8 to OA10.
Teaching Methodologies (Including Evaluation):
Direct and indirect teaching methodologies are applied in theoretical and lab components:
ME1 - e-learning platform; ME2 - Teaching material; ME3- Oral presentation of the information; ME4- Discussion of case-based question and supported by bibliographic consultation; ME5- Experimental activities; ME6- Audio-visual material of free access; and ME7- Student study support
In the theoretical component, the approval (mark of at least 10/20) is certified through two written tests performed (70%). The non-approval in continuous assessment implies an exam at the end of the semester. The practical component includes practical-laboratorial classes. Approval is certified by the completion of two written tests (20%) and the student's performance (10%). The approval implies a mark of at least 10/20 (weighting in the final mark, 30%).
Demonstration of the Coherence between the Teaching Methodologies and the Learning Outcomes:
ME1 - Used of canvas platform to deposit didactic material and establish asynchronous communication with students - transversal application aiming to achieve all the objectives. ME2 - Teaching-learning tools prepared by the teacher (audio-visual material and support texts for problem-based studies) - transversal application aiming to achieve all objectives. ME3-Oral presentation of the information. ME3-Oral presentation of the technical-scientific information outlining the major concepts, processes or mechanisms. ME4- Resolution of practical problems using an experimental approach aiming to develop (i) the student's sensibility about this field of knowledge by contact with basic laboratory techniques; (ii) deductive and inductive reasoning; and (iii) the ability to select, analyse, understand and communicate technical and scientific information – aims to attain the learning objectives OA1, OA5 e OA6. ME5-Synthesis of fundamental concepts and processes complemented with problem-solving activities to stimulate critical thinking and promote bibliography consultation - transversal application aiming to achieve all objectives. ME6- Presentation, analysis and discussion of open access videos about specific topics of the program to improve the apprehension of more complex concepts- applied to objectives OA2 and OA5. ME7- Extension of the teaching hours for study support activities, individual or in groups, and that takes place face-to-face or through institutional digital communication tools (email/e-learning) - applied transversally to achieve all objectives.
Cardoso IL., Cabeda JM., Ribeiro MG. 2012. “Manual de Trabalhos Práticos de Genética”. Edições da Universidade Fernando Pessoa. Portugal. ISBN: 978-989-643-097-9.
Lewis R. 2014. Human Genetics: concepts and applications. 11st ed., McGraw Hill. ISBN: 978-0073525365.
Krebs JE, Goldstein ES., Kilpatrick ST. 2017. “Lewin’s Genes XII”. Jones and Bartlett Learning. EUA. ISBN: 978-1284104493. (existe a versão anterior, Genes XI, 2014)
Turnpenny P., Ellard S. (2017) Emery's Elements of Medical Genetics. 15th Ed. Elsevier. ISBN:9780702066856.
Lecturer (* Responsible):
Maria Gil Ribeiro (