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Metabolic Diseases Genetics

Code 8442
Year 1
Semester S2
ECTS Credits 6
Workload TP(60H)
Scientific area Biochemistry
Entry requirements none
Mode of delivery Face to face (theoretical, theoretical-practical and laboratorial)
Work placements Not applicable
Learning outcomes This curricular unit (CU) aims to provide students with general knowledge of comprehensive and updated principles of genetics, metabolism and the fundamental molecular mechanisms that lead to inherited metabolic diseases.
This CU was planned in order to provide students the knowledge and skills in Human Genetics. So, at the end of this CU, students must:
- Remember the fundamentals of Mendelian Genetics, Cytogenetics and Metabolism;
- Identify the genetic variants that influence human health;
- Understand the Molecular Genetics underlying inherited metabolic disorders related to carbohydrates, lipids and amino acids metabolism;
- Understand the importance of clinical genetics and genetic diagnosis.
Syllabus 1. Introduction to Metabolic Diseases Genetics
2. Genetic pathologies associated with carbohydrates metabolism
2.1 Metabolism of carbohydrates
2.2 Analysis of Molecular Genetics of some of these pathologies
2.3 Main therapeutic strategies and research
3. Genetic pathologies associated with lipids metabolism
3.1 Lipids metabolism
3.2 Analysis of the Molecular Genetics of some of these pathologies
3.3 Main therapeutic strategies and research
4. Genetic pathologies associated with amino acids metabolism
4.1 Metabolism of amino acids
4.2 Analysis of Molecular Genetics of some of these pathologies
4.3 Main therapeutic strategies and research
5. Clinical Genetics
Main Bibliography Main sources:
Inherited Metabolic Diseases: A Clinical Approach editado por Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. Springer, 2016
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases editado por Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke. Springer Science & Business Media, 2006
A Clinical Guide to Inherited Metabolic Diseases editado por Joe T. R. Clarke, Cambridge University Press, 2005

Complementary sources:
Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University editado por Laurie E. Bernstein,Fran Rohr,Joanna R Helm. Springer, 2015
Internet sites: OMIM; pubMed
Teaching Methodologies and Assessment Criteria This curricular unit (CU) starts with some lectures, that will provide the theoretical basis on the Molecular Genetics underlying Inherited Metabolic Diseases. This theoretical knowledge will be assessed in a written test, at the end of the semester (50% of final grade).

Students will also write a review work on "Inherited Metabolic Diseases and Nutrition" (25% of final grade), which will be presented by oral communication (25% of final grade). At this stage, students must be able to use all the knowledge and skills acquired in the course of this CU.
Language Portuguese. Tutorial support is available in English.
Last updated on: 2020-05-25

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