Principles of Human Genetics

Year
1
Academic year
2023-2024
Code
02038048
Subject Area
Human Genetics
Language of Instruction
Portuguese
Other Languages of Instruction
English
Mode of Delivery
Face-to-face
Duration
SEMESTRIAL
ECTS Credits
6.0
Type
Compulsory
Level
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)

No

Syllabus

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.