Medical Genetics II

Code:

MD2405

Acronym:

GM II

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2010/2011 - 2S

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	83	PLANO OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

Provide diagnostic capacity and disease prevention to a Dentist, to identify individuals at risk.
Management skills for the dentist that there may be an understanding of the phenomena that can change, influence, mimic or mask the expression or recognition of a genetic trait and / or their patterns of inheritance.

Program

1. Congenital malformations. Origin and main etiological factors. Possibilities of preventing and genetic counseling.
2. Chromosomal syndromes. Trisomy 21, 13, 18. Other chromosomal syndromes.
4. Syndromes resulting from abnormalities of heterossomas. Syndromes resulting from microdelecções.
6. More frequent monogenic syndromes.
8. Cystic Fibrosis. Clinical manifestations. Main mutations. Variability of clinical expression. Treatment.
9. Lipid changes, genes and environment. Cardiovascular disease. Familial hypercholesterolemia. Familial combined hyperlipidemia.
10. Mucopolysaccharidoses. Hurler, Scheie, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy and Sly syndromes.
11. Neo-natal screening. Hypothyroidism and phenylketonuria.
13. Cancer genetics. Chromosomal changes in cancer (primary, secondary, nonspecific). Oncogenes, oncosupressor genes, DNA repairing genes.
14. Prenatal diagnosis. Methods of diagnosis non-invasive and invasive.
12. Genetic determination of sex. Intersex. Sexual differentiation.
15. Genetic cause of infertility. Reproductive technologies. Intracitoplasmatic microinjection. Preimplantation genetic diagnosis. Genetic implications.
16. Late onset genetic diseases.
17. Genetic counseling. Definition and principles. Ethics in the intervention of the geneticist. The value of the person.

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	40,00
	Total:	-	0,00

Eligibility for exams

Force the rules for obtaining frequency FMDUP.

Calculation formula of final grade

EVALUATION

Theoretical Evaluation (T)

Carried out by an exame consisting of multiple choice questions with five or more points and 3 or 6 essay questions.
The student must mark all points with V or F, but being informed that each point marked incorrectly deducts half of the value of point. This examination will be priced 0 to 20 values.

Evaluation Theoretical-Practice (TP)

Assigned by the teacher responsible for work written (Monography).
The course grade is 0 to 20 and obtained by the following formula:
Continuous assessment (25%) + Evaluation monograph (20%)

Assiduity

Force the general scheme of attendance at FMDUP.

FINAL NOTE

The note is obtained using the following formula:
Rating T (45%) + TP Rating (45%) + Attendance (10%)

Approval for the discipline is effected with a minimum score of 9 values in T evaluation and a minimum score of 9 values in TP evaluation.

DEFENCE AND REVIEW OF EVIDENCE

After completion of each test T and TP will be provided the final score obtained by each student. Students wishing to contest the notice should do so on the date and time indicated by the faculty.

Examinations or Special Assignments

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

Special assessment (TE, DA, ...)

Students with special assessment, whose status permits , may request an assessment outside the normal schedule, and safeguarded the assessment components.

Classification improvement

To achieve a grade improvement is mandatory to perform aa exam with the T and TP component of the curricular unit, keeping the same evaluation criteria applied at the time of appeal.