Advanced Genetics
Code
101029
Academic unit
NOVA Medical School | Faculdade de Ciências Médicas
Credits
5
Teacher in charge
Professor Doutor José Alexandre de Gusmão Rueff Tavares
Teaching language
Portuguese/English
Objectives
To attain at an advanced level, skills: on the structure and function of the genome, on the 'omics' technologies and on the mechanisms of some genetic diseases at the molecular level. To develop a critical and creative mind-set towards the data of genetics that can stimulate the acquisition of skills and methods of research in advanced genetics and its applications in clinical medicine.
Prerequisites
Subject matter
Lectures:
- Organization, expression and analysis of the human genome. Regulation of gene expression;
- Quantitative and population genetics;
- Heritable phenotypes of membrane transport of glucose;
- Membrane transporters and acquired resistance to therapy;
- Gene mendelian pathology analysis of comprehensive situations that may serve as typical crossroads of various research strategies and clinical applications: the examples of cystic fibrosis and familial breast cancer;
- In vitro approaches in pharmacokinetics and toxic-genetics;
- Mutation and protective mechanisms of information fidelity;
- Individual susceptibility to multifactorial diseases;
- Ethics and Genetics;
- Cytogenetic Pathology.
Theoretical-practical classes:
- Regulation of membrane transport of glucose in the kidney tubule;
- In vitro approaches in pharmacokinetics and toxic-genetics;
- MicroRNAs;
- DNA repair and therapeutic response in cancer pathology;
- Individual susceptibility
Bibliography
Publicações internacionais disponibilizadas pelos docentes, relevantes para os doutorandos e associadas aos temas apresentados nas aulas teóricas e teórico-práticas.
-Speicher M, Antonarakis SE, Motulsky AG (Eds.) Vogel and Motulsky's Human Genetics. Problems and Approaches Springer Verlag, 4th ed., 2010.
- Emery A, Rimoin D. Principles and Practice of Medical Genetics" - 3 vols. 5th edition. Churchill Livingstone, 2007.
-Strachan T, Goodship J., Chinnery P. Genetics and Genomics in Medicine. ISBN 978-0-8153-4480-3; Garland Science, 2015.
-"Preventive and Predictive Genetics: Towards Personalised Medicine". Editors: Grech, Godfrey, Grossman, Iris (Eds.); Springer; Series: Advances in Predictive, Preventive and Personalised Medicine, Vol. 9
-Indicação de diversos sites para Pesquisa Bibliográfica, Bases de Dados de Genética, Généthon, Doenças Genéticas, Ensaios Laboratoriais de diagnóstico e Base de Dados de doenças genéticas para o grande público.
Teaching method
Contact hours: 28h
- 18 hours of Lectures
- 10 hours of Theoretical-practical classes
Evaluation method
2 hours per student for evaluation, this consisting on the presentation in front of a jury of a Seminar on a specific topic of research in Genetics.
Courses
