| Code |
12037
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| Year |
1
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| Semester |
S2
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| ECTS Credits |
6
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| Workload |
TP(60H)
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| Scientific area |
Química Medicinal
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Entry requirements |
None
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Mode of delivery |
Face-to-face
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Work placements |
Not applicable
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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 commonly used in the evaluation of changes in the mitochondrial content of biological samples;
- Understand the importance of clinical genetics and genetic diagnosis.
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Syllabus |
Theoretical and theoretical-pratical parts:
1. Introduction to Genetics of Metabolic Diseases
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
Laboratorial part:
1. Some examples of genetic diagnosis
2. Evaluation of the changes in the mitochondrial content in (pre)diabetic subjects
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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
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Language |
Portuguese. Tutorial support is available in English.
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