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Presentation
Presentation
The Human Genetics UC (3912) integrates the basic content to qualification of the future health professional, through the knowledge of human genetics and the normal and pathological characters related to inheriting mechanisms. The acquired knowledge will provide support for the student to recognize and apply some concepts of human genetics in the analysis, disgnosis and clinical practice,
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Class from course
Class from course
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Degree | Semesters | ECTS
Degree | Semesters | ECTS
Bachelor; Master Degree | Semestral | 4
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Year | Nature | Language
Year | Nature | Language
3 | Mandatory | Português
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Code
Code
ULHT477-3912
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Prerequisites and corequisites
Prerequisites and corequisites
Not applicable
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Professional Internship
Professional Internship
Não
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Syllabus
Syllabus
1. Introduction to human genetics 2. DNA structure and replication 3. DNA mutation, repair and recombination 4. Chromosomes and chromosonal changes (Cytogenetics) 5. Inheritance patterns 6. Monogenic inheritance 7. Hemoglobinopathies and Hemophilia 8. Inborn errors of metabolism 9. Multifactorial genetic inheritance 10. Gene interaction and Population Genetics 11. Screening and genetic testing 12. Cancer genetics 13. Genetics and Epigenetics 14. Diagnosis, prevention and treatment of genetic diseases 15. Forensis genetics
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Objectives
Objectives
This curricular unit will address the basic concepts of human genetics and the role of genetics in the development of different pathologies. Students will acquire knowledge and skills about the key elements of human genetics, the basic laws, the genetic variability of populations and how the genes are transmitted. The importance of genetics in diagnosis and clinical treatment will also be addressed. Through the laboratory classes, students will have the opportunity to acquire knowledge about the main techniques of cytogenetics, DNA amplification and study the genetic variability of populations. In addition, students should be able to analyze and interpret different practical scenarios.
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Teaching methodologies
Teaching methodologies
Active learning methodologies based on the resolution of practical problems, on the exposition by the students of some concepts addressed in laboratory classes and the use of observations/results obtained in the laboratory as a starting point for the discussion of more complex concepts/topics.
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References
References
1. Brooker, Robert J. Genetics: Analysis and Principles. 7th ed. McGraw-Hill Education, USA, 2020. ISBN: 978-1-260-57122-4 2. Hartl, Daniel L. Essential genetics and genomics 7th ed. Jones & Bartlett Learning, USA, 2020. ISBN: 978-1-284-15245-6 3. Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John. Introduction to Genetic Analysis 12th ed. W.H. Freeman, UK, 2020. ISBN: 978-1-319-11477-0
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Assessment
Assessment
Avaliação contínua:a) Pontualidade, participação em atividades propostas, capacidade de análise e discussão dos temas expostos, e desempenho nas aulas práticas/laboratoriais.
b) Resolução de exercícios práticos.
c) Preparação de relatório do trabalho laboratorial e estudo de caso.
d) Avaliação Oral dos trabalhos de laboratoriais e estudo de caso.
e) Realização de 2 provas escritas sobre os conteúdos lecionados nas aulas teóricas e práticas/laboratoriais.
Nota final = a (5%) + b (15%) + c (10%) + d (10%) + e (2 x 30 %)
Observações: As ferramentas de inteligência artificial (IA) utilizadas na realização dos elementos da alinea c), têm de ser reveladas pelos alunos, identificando o propósito para a sua utilização. Na avaliação destes elementos de avaliação, os resultados serão aferidos através de elemento de avaliação complementar (oral) com a ponderação de 10% (alínea d).
Exame Final: Serão admitidos a exame final, os alunos que não tenham alcançado resultado positivo na avaliação contínua. A primeira parte do exame incluirá conteúdos abordados nas aulas teóricas e práticas (x). A segunda parte do exame incidirá sobre os temas e procedimentos experimentais/exercícios desenvolvidos nas aulas laboratoriais/práticas (y). O aluno será aprovado caso obtenha uma nota final global igual ou superior a 9,5 val [x (80 %) + y (20 %)].
Melhoria de nota: O exame de melhoria será realizado por exame oral em época de recurso.
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Mobility
Mobility
No
