Class Genetics

The Genetics course unit introduces the main molecular and hereditary mechanisms, with a focus on their application in health and personalized medicine. By integrating fundamentals of molecular biology, classical genetics, and genomics, it enables students to develop skills in the analysis and interpretation of genetic data, applicable in clinical, laboratory, and research contexts. It plays an essential role in the training of students in Computacional Biomedicine, providing a solid foundation for more advanced subjects and preparing them to face contemporary challenges in biomedical science through a practical, interdisciplinary, and up-to-date approach.

Not applicable

1. Introduction to Genetics: Differences between prokaryotic and eukaryotic genomes 2. Human Genome: Organization and structure; gene function and regulation 3. Central Dogma of Biology and Genetic Variability: Gene expression regulation, mutations and repair mechanisms; genetic variability 4. Mendelian and Non-Mendelian Inheritance: Pedigrees, penetrance and expressivity; multifactorial diseases 5. Disease-Associated Genes: Use of haplotypes, linkage studies and gene variants 6. Chromosomal Aberrations: Types, causes and advanced diagnostic techniques 7. Beyond Genomic Sequencing: Mitochondrial inheritance, microsatellite instability; implications of epigenetics and imprinting 8. Population Genetics: Hardy-Weinberg principle, allele and genotype frequencies 9. Cancer Genetics: Germline and somatic mutations, oncogenes, tumor suppressor genes and targeted therapies 10.Genetics and Precision Medicine: Gene expression, pharmacogenetics, genetic testing and genome editing

In this Curricular Unit, the themes are exposed around support material in the form of presentations in digital format. The presentations are built based on the literature and made available to students in advance to encourage prior study and discussion of topics in class. Scientific articles of current studies and visual challenges that represent the evolution of knowledge will also be presented to stimulate critical thinking and contribute to developing the ability to analyze scientific publications. It is intended to vary between moments of exposition of concepts and discussion, encouraging the active participation of students.

Brooker, R. J. (2020). Genetics: Analysis and Principles (7th ed.). McGraw-Hill Education. Hartl, D. L. (2020). Essential genetics and genomics (7th ed.). Jones & Bartlett Learning. Griffiths, A. J. F., Wessler, S. R., Carroll, S. B., & Doebley, J. (2020). Introduction to Genetic Analysis (12th ed.). W.H. Freeman. Krebs, J. E., Goldstein, E. S., & Kilpatrick, S. T. (2018). Lewin’s GENES XII. Jones & Bartlett Learning. Hartl, D. L., & Cochrane, B. J. (2018). Genetics. Analysis of genes and genomes (9th ed.). Jones and Bartlett Publishers. Lewis, R. (2018). Human Genetics: Concepts and Applications (12th ed.). McGraw-Hill Education. Strachan, T., & Read, A. (2004). Human Molecular Genetics (3rd ed.). Garland Science.