Medical Genetics I

Code:

MD2303

Acronym:

GM I

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2014/2015 - 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	76	PLANO OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

Provide knowledge about the inheritance of human traits in normal and pathological cases.

Provide expertise on the basic principles of Genetics and in Genetic applications in Medicine and Dental Medicine.

Promote the awareness of students to the social and ethical issues in relation to the Genetic applications.

 

 

Learning outcomes and competences

Students should have knowledge and skills that enable them to:
- develop a modern concept of health and its determinants of hereditary nature
- acquire the ability to locate and analyze the main genetic pathologies in Portugal in the context for health promotion
- understand the attitudes taken in genetic counseling related to health education and the prevention of disease and its complications
- identify the main risk factors that may contribute to the emergence of a number of multifactorial diseases.

Working method

Presencial

Program

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. Eugenics. Gene variation. Individual susceptibilities and their growing importance. 3. The substrate of genetic information. Chromosomal organization of the genome. Gene concept. DNA structure. Divisions of Medical Genetics: Molecular Genetics, Cytogenetics, Clinical Genetics and Population Genetics. Genetics application. 4. DNA analysis. DNA to the protein. Gene expression. 5. Mutation. Etiology and types. Importance of the mutation. Repair mechanisms. 6. Monogenic, chromosomal, multifactorial, somatic and mitochondrial genetic pathology. Frequency of genetic disease. Determining the nature of an hereditary disease. Mendelian and no mendelean inheritance  Concepts of dominant and recessive. Morton's postulates. 7. Maternal inheritance and mitochondrial genes. Behavior genetics. 8. Extensions and exceptions to Mendel's laws. Sex-linked transmission. Multifactorial . 9. Visualization of chromosomes. Pathology of cell division and meiotic configurations. Cytogenetic techniques. 10. Chromosomal pathology. Chromosomal abnormalities of number and structure. Autossomal pathology. Heterossomal pathology. Uniparental disomy. Repeated miscarriages. Most common chromosomal abnormalities in the newborn. 11. Population genetics - the gene frequencie smaintenance;  constant allele frequencies. 12. Population genetics - the Hardy-Weinberg law applications; changing allele frequencies; effects of the mutation rate, selection, migration and population size; genetic polymorphisms and imbalance. 13.Genetic test for Medicine and Dental Medicine.

Mandatory literature

Lewis Ricki; Human genetics
Hartl DL, Jones ew; Analysis of Genes and Genomes., Jones and Bartlett Publishers., 2005
Peter Turnpenny, Sian Ellard; Emery's Elements of Medical Genetics, Elsevier, 2007
Jorde, Carey, Bamshad, White; Medical Genetics, Mosby, 2006
Thompson & Thompson; Genetics in Medicine, Saunders, 2001

Teaching methods and learning activities

Theoretical learning - 1 weekly theoretical class (Compulsory).

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

The theoretical-practical classes work with two main objectives - preparing review papers (monographs) and addressing issues relevant matter theory and practice.

Practical learning - 1 weekly hour experience monitored in the Pregnant and Baby Query or in Orofacial Genetics Query of FMDUP, taking place at Friday from 9:00 to 13:00 (optional).

- The works, which contribute to the final classification, to be executed with the accompaniment of a teacher during the semester provided the calendar include the following groups:

§ Papers - Development of the topic within the Medical Genetics, previously defined by the faculty, in written form (required).
§ Web Page - Theme of Medical Genetics presented as a web page, which can then be attached to the online web page of the GMI Curricular Unit (optional).
§ Presentation and discussion of articles - Discussion regular items (optional).
§ Research projects - Participation in a research project, preparation of scientific work to be submitted for publication or in Congress, with the support of a teatcher of GMI Curricular Unit(optional).
§ Participation in the Pregnant and Baby Query of FMDUP or in the Orofacial Genetics Query of FMDUP - Registration (groups of students) to experience 1 weekly monitored  hour in the Query of the Pregnant Baby of  FMDUP or in the Query of Orofacial Genetics of FMDUP, taken place every Friday from 9:00 to 13:00 hours (optional).

keywords

Health sciences
Social Sciences, Commerce and Law > Basic programmes
General programmes > 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
	Exame		45,00
	Participação presencial		10,00
	Trabalho de campo		25,00
	Trabalho escrito		20,00
	Total:	-	100,00

Amount of time allocated to each course unit

Description	Type	Time (hours)	End date
	Elaboração de projeto	1
	Elaboração de relatório/dissertação/tese	3
	Frequência das aulas	4
	Realização de Estágio	1
	Trabalho de campo	3
	Total:	12,00

Eligibility for exams

Force the rules for obtaining frequency FMDUP.

The frequency acquisition to the Curricular Unit  is only possible after accomplishment of the evaluation of the two components (T and TP).

Approval for the Curricular Unit is only possible with a minimum grade end of 9.5, with a mandatory minimum score of 9 values for each of the components T and TP.

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 qnd by1 to 6 development questions. Students should note all the points with T or F. However should also know that each wrong choice lessens 1/2 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 throughout the semester and  the monograph. Theoretical-practical mark will be awarded 0-20 and values obtained using the following formula: Continuous assessment (25%) + Monograph evaluation (20%).

Attendance - follows the general attendance regime prevailing in FMDUP.

FINAL NOTE

The note is obtained using the following formula: Theoretical evaluation (45%) + Theoretical - practical evaluation (45%) + Attendance (10%).

The approval of the curricular unit is only accomplished with a minimumfinal score of 9,5 value, with a mandatory minimum score of 9 values for each of the components T and TP.

Admission to the final examination or appeal is possible only after the completion of the theoretical-practical component.

Students who opt to participate in the web page of the GMI curricular Unit, in a research project, in the preparation of scientific work to be submitted for publication or conference or to participate in the  Pregnant and Baby Query of FMDUP or in the Orofacial Genetics Query of FMDUP have  an additional value in the final mark.

RE-EVALUATION OF EXAMS AND POSSIBLE CONTESTATION OF MARKS

After completion of each test T and TP will be provided the final score obtained by each student. 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

Students whose status allows the system frequency and / or special assessment may request additional evidence evaluation.

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 an final Theoretichal exam and have done the Theoretical-practical component of the Curricular Unit, maintaining the same evaluation criteria applied to the appeal season.  

 

Observations

Teaching Staff:

Prof. Paula Vaz - Auxiliar Professor of Medical Genetics I, II and Orofacial FMDUP (Regent).

External Collaborators and students of Postgraduation, PhD or Specialization of FMDUP.