Medical Genetics I

Code:

MD2303

Acronym:

GM I

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2015/2016 - 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	77	PLANO OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

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.

Learning outcomes and competences

The proposed syllabus intend that the student at the end of the curricular unitholds knowledge about the inheritance of normal and pathological human characteristics, has skills on the basic principles of Genetics and applications of Genetics in Medicine and Dentistry and, thus, acquires awareness of social issues and ethics in relation to the application of Genetics.

Working method

Presencial

Program

Human Genetics history. Genetic areas. Gene regulation of development, metabolism and homeostasis.
Origin and species evolution. Molecular evolution. Eugenics.
Chromosomal organization of the genome. Gene concept. DNA structure. Genetics applications. DNA analysis. Gene expression.
Mutation (etiology, types, importance, repair mechanisms).
Monogenic, chromosomal, multifactorial, somatic and mitochondrial genetic pathology. Mendelian and no mendelian inheritance. Concepts of dominant/recessive. Morton's postulates.
Maternal inheritance and mitochondrial genes.
Behavior genetics. Extensions/exceptions to Mendel's laws. Sexlinked transmission. Multifactorial inheritance.
Visualization of chromosomes.Cytogenetic techniques. Chromosomal pathology.Chromosomal abnormalities of number and structure. Autossomal pathology. Heterossomal pathology.
Population genetics(HardyWeinberg
law applications).
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 and theoreticalpractical learning.
The theoretical classes work of expository form in order to enable stored knowledge, acquire new knowledge and to summarize and integrate the globality of the information. The exhibition is performed using the appropriate software presentations and thematic videos.
The theoreticalpractical classes are held using cognitive strategies for reading texts and discussion group on issues, objectify the student to anticipate information contained in the texts, formulate and reformulate hypotheses, confirm or reconstruct ideas for achieving the understanding contained in the texts .
Theoretical Evaluation (A) (Final Theoretichal Exam) and Theoreticalpratical Evaluation (B) (Continuous Evaluation B1 and Written Work B2).
Valuation formula: A (50%) + B1 [50%(B1 25% + B2 25%)].

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
	Exame		50,00
	Trabalho de campo		25,00
	Trabalho escrito		25,00
	Total:	-	100,00

Amount of time allocated to each course unit

Description	Type	Time (hours)	End date
	Elaboração de projeto	2
	Elaboração de relatório/dissertação/tese	3
	Frequência das aulas	4
	Trabalho de campo	3
	Total:	12,00

Eligibility for exams

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 performance of the student throughout the semester and the group work. Theoretical-practical mark will be awarded 0-20 and values obtained using the following formula: Continuous assessment (25%) + Group work evaluation (25%).

Attendance - follows the general attendance regime prevailing in FMDUP.

FINAL NOTE

The note is obtained using the following formula: Theoretical evaluation (50%) + Theoretical - practical evaluation (50%).

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.

Internship work/project

Students who wish may participate in a research Project, in the preparation of scientific work to be presented in Congress or for publication in area defined by the teacher responsible.

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).