Medical Genetics

Code:

212

Acronym:

212

Instance: 2004/2005 - A

Active?	Yes
Web Page:	http://bragatel.pt/ns014454/genetica
Course/CS Responsible:

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MD	43	Plano oficial a partir de 2000	2	6	13	-

Objectives

The role of Genetics in Medicine; the theoretical and practical application of knowledge in Medical Genetics
(from the gene to the disease and to the patient).
Ethical considerations about the dilemmas involved in Medical Genetics.

Program

1. A brief history of human genetics. The importance of Medical Genetics and of genetic diseases in Medicine.
2. The notion of gene. The branches of Medical Genetics: Molecular Genetics, Cytogenetics, Clinical Genetics, Genetic of Population.
3. The substratum of genetic information.
4. The substratum of genetic information - technological applications. DNA analysis
5. The genetic variation: its origin and detection. The change as the basis for genetic variation.
6. The notion of Locus and of ploidia variation.
7. The relationship between genes from different loci
8. Kinds of heredity.
9. Pathology of cellular division and meiotic configurations. Autossomes and Heterossomes.
10. Anomalies in number and structure of the cromossomes.
11. Repetition miscarriage and cromossome Abnormalities. Levels of natural selection.
12. Abnormalities of the Heterossomes. Turner syndrome. Klinefelter syndrome. Other abnormalities in the heterossomes.
13. The interaction between the genoma and the environment. Farmacogenetics and ecogenetics.
14. The relationship genotype/fenotype. Genetic diversity, genocopies and fenocopies.
15. Lyon effect. Dose effect. Precipitation and inactivaction.
16. Family inquiry and family tree. The most frequent symbology.
17. Congenital malformations: its origin and main etiological factors.
18. Cystic fibrosis . Clinical manifestations. The main changes and muatations. The variability of its clinical expression.
19. Lipidic changes, genes and environment.
20. Mucopolisscaridosis.
21. Hemoglobin Pathology.
22. Changes in amino acid metabolism.
23. Imunogenetics.
24. Genetic determination of the sex. Intersex. Sexual differentiation.
25. Cancer genetics. Cromossomic alterations in cancer.
26. Populational Genetics. The maintenance of the genic frequencies.
27. Prenatal diagnosis. No-invasives and invasives methods of diagnosis.
28. Infertility and genetic cause.
29. Reproduction technologies.
30. Genetic diseases with late manifestation.
31. Genetic advice. Definition and principles.
32. Ethics in the geneticist's intervention. A person and its value.
33. Conclusions and general discussion of the several topics.

Main Bibliography

BIBLIOGRAPHY
Lewis R.ed. Human Genetics- Concepts and Applications. Sixth Edition. Boston, Madrid, London. McGrawHill, 2005.

Hartl DL, Jones ew. Genetics- Analysis of Genes and Genomes. Sixth Edition. Boston, Toronto, London, Singapure. Jones and Bartlett Publishers, 2005.

Mueller RF, Young ID. Emery`s Elements of Medical Genetics. Churchill Livingstone, 11ª edição,1998.

Teaching methods and learning activities

Theoretical learning - 2 weekly theoretical classes, 1 hour each

Compulsory theoretical-practical learning - 1 weekly theoretical-practical class, 1 hour and a half each.

Evaluation Type

Distributed evaluation with final exam

Eligibility for exams

See academic regulation.

Calculation formula of final grade

The final mark results from the following formula:
Theoretical evaluation x 70% + Practical evaluation x 30%

Examinations or Special Assignments

Webpage: topic on Medical Genetics presented as a Webpage, which can be later attached to the subject on-line (optional).
Papers presentation and discussion: regular discussion of papers and its bibliography (optional).
Research projects: participation in a research project, preparation of a scientific work, with the teachers' support,
to be presented in a congress or to be published (optional).