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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.
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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.
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