Medical Genetics II

Code:

MD2405

Acronym:

GM II

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2007/2008 - 2S

Active?	Yes
Web Page:	http://genetica-fmdup.pt.vu/
Course/CS Responsible:	Integrated Master in Dental Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMD	81	Plano de Transição 2º Ano Bolonha 2007	2	-	3	45	81

Teaching language

Portuguese

Objectives

To understand the role of genetics in Medicine, pratical and theoretical applications - ethical considerations of the dilemmas involving the Medical Genetics.
Provide the future dentist with diagnostic and disease prevention skills to allow the identification of susceptible individuals to genetic disease. To understand key factors that influence genetic traits and hereditary patterns.
In the medical genetics course, we use active learning and parallel research activities that will help the students to develop an interest in genetics and critical though in the search for knowledge.

Program

NOTE: The student must request the Registrar the curriculum for this discipline in SIGARRA is an abridged version of the same.

1. The interaction between the genoma and the environment. Farmacogenetics and ecogenetics.
The relationship genotype/fenotype. Genetic diversity, genocopies and fenocopies.Expressivity. Age-dependent penetrance. The phenomenon of anticipation. Sex-linkage, influence of sex and gender restrictions.

2. Cancer genetics.

3. Congenital malformations: its origin and main etiological factors.Possible prophylactic and genetic counseling.

4. Prenatal diagnosis. No-invasives and invasives methods of diagnosis.Prenatal screening for congenital anomalies.

5. Genetic determination of sex. Intersex. Sexual differentiation.

6. Hemoglobin Pathology.Sickle cell anemia. Thalassemias.

7. Imunogenetics.The immune response, genetic basis of the structure and diversity of immune response proteins. Blood groups. Immunodeficiency diseases.

8. Cystic fibrosis . Clinical manifestations. The main changes and mutations. The variability of its clinical expression. Treatment and genetic study.

9. Lipidic changes, genes and environment.Cardiovascular disease. Hypercholesterolemia family. Familial combined hyperlipidemia. Genetic studies.

10. Mucopolisscaridosis.Hurler, Scheie, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy and Sly syndromes.

11. Changes of amino acid metabolism. Hyperphenylalaninemia: Phenylketonuria type I, type II Phenylketonuria, Phenylketonuria type IV. Homocystinuria, deficiency of ornithine transcarbamylase. Congenital hypothyroidism. The neo-natal screening in Portugal.

12. Infertility and genetic cause. Reproduction technologies.Intracytoplasmic sperm injection. Diagnosis preimplantation genetic. Genetic implications.

13. Frequently gene syndromes.

14. Genetic diseases with late manifestation.Predictive tests.

15. Susceptibility testing and genetic risks. Utility and applications.

16. Population screening and genetic records.

17. Prevention and treatment of genetic diseases. Genetic counseling. Definition, principles and techniques.

18. Medical Genetics and Ethics.

19. Conclusions and general discussion of the issues.

Mandatory literature

Lewis Ricki; Human genetics

Teaching methods and learning activities

Theoretical learning
- 1 weekly theoretical classe, to 1 hour.

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

- The theoretical and practical work with two main objectives - preparation of review works and discussion of topics relevant theoretical and practical matters.

- The scientific assignments contribute to the final marks and will be supervised by a teacher during the scheduled academic term. They can be presented as:
. Presentation / oral discussions: preparation and presentation of a theme within the Medical Genetics, first defined by the teaching staf (compulsory).
. Webpage: topic on Medical Genetics presented as Webpage, which can be later attached to the subject on-line (optional).
. Papers presentation and discussion: regular discussion of relevant papers to this subject
and bibliography updating (optional).
. Research projects: participation in a research project, preparation of a scientific work to be presented in a congress or to be published, supervised by teaching staf (optional).

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	50,00
	Total:	-	0,00

Eligibility for exams

Force the rules for obtaining frequency FMDUP.

Calculation formula of final grade

EVALUATION

Theoretical (compulsory) and theoretical-practical evaluation (compulsory).

Theoretical evaluation (T)
Made through a multiple-choice examination with five or more sub-headings and a genealógic heredogram. Students should note all the points with T or F. However should also know that each wrong choice lessens 1/4 of the value of the correct sub-heading.
This examination will be scored in a scale of 0 to 20.

Theoretical-practical evaluation (TP)
Given by the teacher in charge according to the work done by the student. Marks go from 0 to 20,
values distributed on 3 parameters: attendance, participation and behavior, resolution of problems / issues on matters of theoretical-practical classes.

RE-EVALUATION OF EXAMS AND POSSIBLE CONTESTATION OF MARKS

Students who want to contest the final mark, can do it on a set time indicated by the teachers in charge.

Examinations or Special Assignments

Work are not covered nor is special. Obtaining approval to the discipline is governed by the same criteria for all students except those enrolled in the special We contemplate the FMDUP.

Special assessment (TE, DA, ...)

The students of working student, professional athlete or leader associations, can be assessed by exam, outside the normal assessment in accordance with the law in effect FMDUP.

Classification improvement

To obtain grade improvement is mandatory to perform a scan with the theoretical and theoretical-practical discipline, keeping the same evaluation criteria applied to the exam.

Observations

Professor Purificação Tavares - Regent Professor of Medical Genetics and Orofacial FMDUP, Phd Medical Genetics.
Doctor Paula Vaz - Invited Assistantof Medical Genetics and Orofacial FMDUP.