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Human Molecular Genetics

Code 13527
Year 1
Semester S2
ECTS Credits 6
Workload TP(60H)
Scientific area Biomedical Sciences
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 and fundamental molecular mechanisms that lead to human 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:
- Know the evolution of Human Genetics over time;
- Remember the fundamentals of Mendelian Genetics and Cytogenetics;
- Know the techniques of genetic and physical mapping of the human genome;
- Identify the genetic variants that influence human health;
- Understand the Molecular Genetics underlying muscle, neurological, ocular and mitochondrial disorders, among others;
- Be able to evaluate the changes in the mitochondrial gene expression in a genetically modified animal model;
- Understand the importance of Clinical Genetics and genetic diagnosis.
Syllabus Theoretical and theoretical-practical component:
- Foundations of Human Molecular Genetics
- Genetic and physical mapping of human chromosomes
- Epigenetics
- Organism models in the study of genetic diseases
- Analysis of human monogenic diseases
- Complex Genetic Diseases: identification of susceptibility factors and understanding of pathogenesis
- Analysis of the Molecular Genetics of selected genetic diseases:
Molecular Genetics of muscle disorders
Molecular Genetics of neurological disorders
Molecular Genetics of eye disorders
Molecular Genetics of mitochondrial disorders
- Molecular diagnoses and Clinical Genetics

Laboratory practice component:
- evaluation of changes in the mitochondrial gene expression in a genetically modified animal model
Main Bibliography New Clinical Genetics fourth edition (4th ed.). edited by Read, A., & Donnai, D. Scion Publishing, 2020.
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
Strachan, T., & Read, A. (2018). Human Molecular Genetics: 5th Edition. CRC Press.
Speicher, M. R., Antonarakis, S. E., Motulsky, A. G., and Vogel, F. (eds) (2010). Vogel and Motulsky’s Human Genetics: Problems and Approaches. 4th completely rev. ed. Heidelberg; New York: Springer.
Pasternak, J.J. (2005) Introduction to human molecular genetics - mechanisms of inherited diseases, 2nd edition. John Wiley and Sons, Ltd.

OMIM; pubMed.
Teaching Methodologies and Assessment Criteria This CU starts with some lectures that will provide the theoretical knowledge related to Molecular Genetics underlying Human Inherited Diseases (muscle, neurological, ocular and mitochondrial disorders). 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 gene expression in a genetically modified animal model. 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: 2024-03-01

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