Principles of Human Genetics
1
2023-2024
02038048
Human Genetics
Portuguese
English
Face-to-face
SEMESTRIAL
6.0
Compulsory
2nd Cycle Studies - Mestrado
Recommended Prerequisites
Basic knowledge of biology, biochemistry of the pre-graduate cycle in the context of biomedical sciences.
Teaching Methods
For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be best suited with the theoretical contents concerning principles of human genetics; the clinical and genetic bases of other mechanisms involved in genetic diseases.
The test will be carried out in accordance with specific pedagogical objectives of the module and the number of questions will be representative of the importance of the subject to be assessed and the number of hours spent in each theme.
Learning Outcomes
Describe the history of human genetics in medicine
Understand the basics of human genetics
Analyse the impact of human genetics in laboratory genetics and medicine
Analysing the cellular and molecular basis of heredity; Patterns of heredity (Mendelian Inheritance, non-Mendelian inheritance and complex inheritance
Construct and analysis of heredograms
Analyse the basic terminology in clinical laboratory genetics
Analyse the basis of mutagenicity and teratogenicity
Analyse complex genetic diseases and susceptibility
Recognize the development and the role of this area of laboratory genetics in clinic diagnosis and research
Identify the different technological tools in the field of human genetics
Promote communication skills and teamwork through the analysis and presentation on various themes in human genetics.
Work Placement(s)
NoSyllabus
General principles of human genetics
The history and impact of human genetics in medicine
The cellular and molecular basis of inheritance
Patterns of inheritance (Mendelian inheritance, non-Mendelian inheritance and complex heredity)
Mutagenesis and teratogenesis
Uniparental disomy and imprinting
Complex traits and disease susceptibility
Presentation and discussion of problem cases/themes in the field of human genetics.
Head Lecturer(s)
Isabel Maria Marques Carreira
Assessment Methods
Assessment
Presentation of a theme or discussion of a problem case in the field of human genetics, being evaluated the content, communication skills and teamwork: 20.0%
Evaluation can involve various formats (multiple questions and/or other formats : 80.0%
Bibliography
Peter Turnpenny Sian Ellard. Emery´s Elements of Medical Genetics. 15th edition ISBN: 9780702066856
Tom Strachan, Andrew Read Human Molecular Genetics, Fourth Edition 4th Edition. ISBN-13: 978-0815341499
Thompson & Thompson Genetics in Medicine, 8th Edition by Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard
Artigos científicos originais e de revisão, no âmbito dos temas em discussão.