Medical Genetics I

Code:

MD2303

Acronym:

GM I

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2010/2011 - 1S

Active?	Yes
Web Page:	http://genetica-fmdup.pt.vu/
Responsible unit:	Mestrado Integrado
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 OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

To understand the role of genetics in Medicine: from the gene to the disease and the patient.

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

1.Human Genetics history. Importance of Medical Genetics and genetic diseases in medicine. Reasons for the increase in their relative incidence. Brief description of the areas of genetics. Reasons for the increase of the disease. Gene regulation of development, metabolism and homeostasis.

2.Origin and species evolution. Molecular Evolution. Eugenia. Variation spunk. Individual susceptibilities and their growing importance.

3.Gene cioncept. Divisions of Medical Genetics: Molecular Genetics, Cytogenetics, Clinical Genetics and Population Genetics. Applications of Genetics. DNA structure.

4.Análise DNA. DNA to the protein. Gene expression.

5.Mutação. Etiology and types. Importance of the mutation. Repair mechanisms.

6.Patologia monogenic genetic, chromosomal, multifactorial, somatic mitochondria. Frequency of genetic disease. Determining the nature of a hereditary disease. Mendelian heredity. Concepts of dominant and recessive. Morton's postulates.

7.Hereditariedade and maternal mitochondrial genes.
Behavior genetics.

8.Extensões and exceptions to Mendel's laws. Sex-linked transmission. Multifactorial heredity.

9.Visualização of chromosomes. Pathology of cell division and meiotic configurations.

10.Patologia chromosome. Chromosomal abnormalities of number and structure. Autossomopatias. Heterossomopatias. Uniparental disomy. Spontaneous abortion. Most common chromosomal disorders in the newborn.

11.Genética population. The maintenance of gene frequencies. Allele frequencies constant.

12.Genética population. Application of the Laws of Hardy-Wienberg. Alteration of gene frequencies. Effects of the mutation rate, selection, migration and population size. Genetic polymorphisms, imbalance.

13.Testes in Genetic Medicine and Dentistry.
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Mandatory literature

Lewis Ricki; Human genetics
Hartl DL, Jones ew; Analysis of Genes and Genomes., Jones and Bartlett Publishers., 2005

Teaching methods and learning activities

Learning

- Theoretical learning - 1 weekly theoretical classe.

- 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:
. Monographs: written development of a the theme of 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 (optional).

keywords

Health sciences
General programmes > Basic programmes
Social Sciences, Commerce and Law > Basic programmes
General programmes > Basic programmes > Basic programmes
General programmes > Basic programmes

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	40,00
	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.
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: theoretical - practical work, participation and behavior, resolution of problems / issues on matters of theoretical-practical classes.

FINAL NOTE
- currricular Each type of theory and practice.
Final note = (theoretical evaluation x 0.45) + average (theoretical - practical work continuous assessment +) x 0.45 + (attendance x 0.1).

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.