Medical Genetics II

Code:

MD2405

Acronym:

GM II

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2013/2014 - 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	56	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. Acquire the fundamental knowledge of the pathogenesis of genetic diseases.To achieve these major objectives will be addressed the following key points:
- Main genetic diseases that are known in individuals and populations.
- Genetic basis of disease and its molecular diagnostics.
- Concept of early diagnosis.
- Prenatal diagnosis and presymptomatic diagnosis.
Management skills to the dentist so they can understand the applications of genetics and new therapies.

Learning outcomes and competences

Students should have knowledge and skills that enable them to:

- identify the etiology of genetic diseases.

- identify major resources and diagnostic techniques of genetic alterations.

- recognize the applicability of the main diagnostic tests in genetics.

- make a correct transmission to patients and family information that concerns them, once the situation defined by the geneticist.

Working method

Presencial

Program

1. Congenital malformations. Origin and main etiological factors. Possibilities of preventing and genetic counseling. Chromosomal syndromes. Trisomy 21, 13, 18. Other chromosomal syndromes. Syndromes resulting from abnormalities of heterossomas. Syndromes resulting from microdeletions. Most common monogenic syndromes.

2. Cystic Fibrosis. Clinical manifestations. Main mutations. Variability of clinical expression. Treatment.

3. Neurodegenerative and neuromuscular diseases. Muscular Duchenne and Becker dystrophy. Clinical manifestations. Associated mutations. Treatment.

4. Lipid disorders, genes and environment. Cardiovascular disease. Familial hypercholesterolemia. Familial combined hyperlipidemia.

5. Mucopolysaccharidoses. Hurler, Scheie, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy and Sly syndromes.

6. Late onset genetic diseases.

7. Changes of amino acid metabolism.

8. Fabry disease. Hemochromatosis. Polycystic kidney disease. Otosclerosis. Hemoglobinopathies.

9. Neo-natal screening. Hypothyroidism and phenylketonuria.

10. Cancer genetics. Chromosomal changes in cancer (primary, secondary, nonspecific). Oncogenes, oncosupressor genes, DNA repairing genes.

11. Prenatal diagnosis. Methods of diagnosis non-invasive and invasive.

12. Genetic cause of infertility. Reproductive technologies. Intracitoplasmatic microinjection. Preimplantation genetic diagnosis. Genetic implications.

13. Genetic counseling. Definition and principles. Ethics in the intervention of the geneticist. Eugenics. The value of the person.

Mandatory literature

Lewis Ricki; Human genetics
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 classe, to 1 hour.

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

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	2
	Elaboração de relatório/dissertação/tese	3
	Frequência das aulas	4
	Trabalho de campo	3
	Total:	12,00

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 1 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 curriculat unit is effected with a minimum score of 9 values in T evaluation and a minimum score of 9 values in TP evaluation.

Admission to the final exam or the appeal is only possible after the completion of a theoretical- practice component.

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 an exam with the T and TP component of the curricular unit, keeping the same evaluation criteria applied at the time of appeal.