Pharmacy

1Pharmacogenetics

Farmacogenética

Course code:9494445

Ana Clara Guerreiro de Oliveira Ribeiro

Learning outcomes of the curricular unit:

Goals of the Theoretical classes:

  • Acquisition of pharmacogenetics and pharmacogenomics concepts that identify the individual genetic profile and therapeutic efficacy.
  • Recognizing the importance of genetic constitution and the environment and respective interactions in the human development of monogenic, chromosomal or multifactorial genetic diseases in societies.
  • Identification of necessary tools that enable the construction of therapeutic responses directed to the individual genetic profile, respecting the variability intra and inter-individual.

Goals of the Practical classes:

  • Knowledge of the theoretical basis and practical use of the methodologies currently available for Mutational analysis
  • Elucidation of the cytogenetics and molecular basis of genetic diseases and evaluation of potential genotoxic activity of compounds
  • Implementation of some of the methodologies mentioned above
  • Analysis of genetic polymorphisms
Syllabus:
Lectures:
  1. Human Genetics concept
  2. Human diversity. Polymorphisms, mutations
  3. Numerical and structural chromosome changes
  4. Types of inheritance
  5. Gene Therapy
  6. Population genetics
  7. Genetic Toxicology and Oncobiology concepts
  8. Pharmacogenetics and Pharmacogenomics concepts
  9. Methods of study the human genome for analyzing mutations
  10. Polymorphisms of genes coding for Phase I and II metabolism enzymes and cellular action proteins; Biomarkers useful for predicting adverse reactions
  11. Pharmacogenetics of importance in the therapy of different types of diseases and the development of new therapeutic targets
Practical classes:
Genetic disease, identification of mutations and molecular genetics
Classical and Molecular cytogenetics (FISH)
Genetic toxicology
Pharmacogenetic tests and its application in cancer, hypertension and in infectious diseases treatments
Elements of population genetics
 
Suggested Bibliography:
  • Altman RB, Flockhart D, Goldstein DB (2012) Principles of Pharmacogenetics and Pharmacogenomics. Cambridge University Press. ISBN: 9781139051194
  • Regateiro FJ (2013) Manual de Genética Médica. IUCoimbra. ISBN: 972-8704-12-7
  • Nussbaum R, McInnes RR, Willard HF (2001) Thompson & Thompson Genetics in Medicine, 6th ed., Elsevier, The Netherlands. ISBN: 978-0721669021
  • Connor M and Ferguson-Smith MA (1984) Essential Medical Genetics.5th ed., Oxford, Blackwell Science. ISBN: 978-0632013319
  • Griffiths AJF, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM (2000) An introduction to genetic analysis. 7th ed. New York, WH Freeman. ISBN: 13: 978-0716749394