| Code |
17235
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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 |
Biochemistry
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Entry requirements |
None
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Learning outcomes |
This Curricular Unit (CU) aims to provide students with general knowledge of comprehensive and updated principles of genetics, the metabolism of carbohydrates, lipids, and amino acids (and its regulation) and fundamental molecular mechanisms that lead to human metabolic genetic diseases.
This CU was planned in order to provide students with knowledge and skills in Human Genetics. So, at the end of this CU, students must:
- Remember the fundamentals of Mendelian Genetics and Cytogenetics;
- Identify the genetic variants that influence human health;
- Understand the Molecular Genetics underlying human metabolic genetic diseases;
- be able to perform molecular genetics techniques at the laboratory level, particularly regarding the genetic diagnosis of MODY diabetes (Maturity-Onset Diabetes of the Young);
- Understand the importance of Clinical Genetics and genetic diagnosis.
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Syllabus |
- Introduction to the Genetics of Metabolic Diseases
- Carbohydrate metabolism related genetic diseases
Carbohydrate metabolism
Analysis of the Molecular Genetics of some of these diseases
Main therapeutic strategies and research
- Lipid metabolism genetic diseases
Lipid metabolism
Analysis of the Molecular Genetics of some of these diseases
Main therapeutic strategies and research
- Amino acid metabolism genetic diseases
Amino acid metabolism
Analysis of the Molecular Genetics of some of these diseases
Main therapeutic strategies and research
- Molecular diagnoses and Clinical Genetics
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Main Bibliography |
The Online Metabolic and Molecular Bases of Inherited Disease ed. 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
Inherited Metabolic Diseases: A Clinical Approach ed. por Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. Springer, 2016
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases ed. por Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke. Springer Science & Business Media, 2022
A Clinical Guide to Inherited Metabolic Diseases ed. por Joe T. R. Clarke, Cambridge University Press, 2009
Bibliografia complementar:
New Clinical Genetics fourth edition (4th ed.). ed. por Read, A., & Donnai, D. Scion Publishing, 2020.
Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University ed. por Laurie E. Bernstein,Fran Rohr,Joanna R Helm. Springer, 2015
OMIM; PubMed
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Teaching Methodologies and Assessment Criteria |
Throughout the theoretical classes, students will 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 genetic diagnosis of MODY diabetes (Maturity-Onset Diabetes of the Young). Later, a paper will be written based on the obtained experimental results (25% of the final grade).
All knowledge / skills acquired will be assessed in a written test performed by the end of the semester (50% of the final grade).
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Language |
Portuguese. Tutorial support is available in English.
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