Human Genetics
Objectives
- Curiosity: the desire to discover the potential of genetics in medicine (... Wonderful and full of wonder).
- • Comprehension: understand and master genetic mechanisms and their role in pathology.
- • Competence: knowing how to apply models and methods of genetics to new situations.
- • Capabilities: the ability to perform experimental tasks and search for information.
- • Creativity: find grounds to criticize the assumptions and learn how to found new explanatory hypotheses of genetic phenomena.
General characterization
Code
11834
Credits
3.0
Responsible teacher
António Sebastião Rodrigues
Hours
Weekly - 2
Total - Available soon
Teaching language
Português
Prerequisites
N.A.
Bibliography
-Strachan T, Goodship J., Chinnery P. “Genetics and Genomics in Medicine”. Garland Science, 2015.
-Strachan T, Read A.P. “Human Molecular Genetics”, 4th edition. Garland Science, 2010.
-Nussbaum RL, McInnes RR, Willard HF. “Thompson & Thompson Genetics in Medicine”, 7th edition. Saunders, 2007.
- Regateiro FJ. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2007.
Teaching method
Available soon
Evaluation method
Available soon
Subject matter
Introduction and organization of the genome
Cytogenetics and chromosomal disorders
Heredity Patterns
Human genome sequence variants
Gene expression and its regulation
Mendelian diseases
Multifactorial Diseases - Genetic Susceptibility
DNA damage and repair and repair deficit syndromes
Nutrigenetics and Nutrigenomics
Pharmacogenetics revisited and case studies
Formal and Population Genetics
Infectious diseases and host genetics
Gene Therapy