-
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,
-
Class from course
Class from course
-
Degree | Semesters | ECTS
Degree | Semesters | ECTS
Bachelor; Master Degree | Semestral | 4
-
Year | Nature | Language
Year | Nature | Language
3 | Mandatory | Português
-
Code
Code
ULHT477-3912
-
Prerequisites and corequisites
Prerequisites and corequisites
Not applicable
-
Professional Internship
Professional Internship
Não
-
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 11. Screening and genetic testing 12. Cancer genetics 13. Genetics and Epigenetics 14. Diagnosis, prevention and treatment of genetic diseases 15. Forensis genetics
-
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.
-
Teaching methodologies and assessment
Teaching methodologies and assessment
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.
-
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
-
Office Hours
Office Hours
-
Mobility
Mobility
No
