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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;
- Be able to perform techniques in order to evaluate changes in the mitochondrial content of biological samples
- 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
The Online Metabolic and Molecular Bases of Inherited Disease editado por David Valle, Arthur L. Beaudet, Bert Vogelstein, Kenneth W. Kinzler, Stylianos E. Antonarakis, Andrea Ballabio, K. Michael Gibson, Grant Mitchell. McGraw-Hill Companies, Inc. 2020

Complementary sources:
Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University editado por Laurie E. Bernstein,Fran Rohr,Joanna R Helm. Springer, 2015
Fontes internacionais de dados on line. OMIM; pubMed
Teaching Methodologies and Assessment Criteria This CU starts with some lectures that will provide the theoretical knowledge related to Molecular Genetics underlying metabolic genetic diseases. Teacher / student interaction will also be promoted by using the interrogative method. Throughout the theoretical classes, students will also be given the opportunity to analyze and discuss scientific papers in order to prepare 4 short oral presentations on the topics (25% of the final grade).
In the practical component, students will acquire skills at the laboratory level, particularly regarding the evaluation of changes in the mitochondrial content in (pre)diabetic rats. Later, a paper will be written based on the obtained experimental results (25% of the final grade).
All knowledge / skills acquired within the scope of this CU will be evaluated in a written test performed by the end of the semester (50% of the final grade).
Language Portuguese. Tutorial support is available in English.
Last updated on: 2021-06-05

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