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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 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 genetical 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; - Understand the importance of Clinical Genetics.
Syllabus 1. Introduction to Human Molecular Genetics 2. Genetic and physical mapping of human chromosomes 3. Discovery of human disease-causing genes 4. Molecular Genetics of complex diseases 5. Analysis of the Molecular Genetics of selected biological systems 5.1. Molecular Genetics of muscle disorders 5.2. Molecular Genetics of neurological disorders 5.3. Molecular Genetics of eye disorders 5.4. Molecular Genetics of mitochondrial disorders 6. Clinical Genetics
Main Bibliography Pasternak, J.J. (2005) Introduction to human molecular genetics - mechanisms of inherited diseases, 2nd edition. John Wiley and Sons, Ltd. 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. 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 Human Inherited Diseases (muscle, neurological, ocular and mitochondrial disorders). 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 "Human Inherited Diseases and Nutrition" (25% of final grade) that 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: 2020-05-11

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