Medical Genetics II

Code:

MD2405

Acronym:

GM II

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2017/2018 - 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	70	PLANO OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

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 information transmission to patients and family that concerns them, once the situation is defined by the geneticist.

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
Hartl DL, Jones EW.; Analysis of Genes and Genomes, Jones and Bartlett Publishers., 2005

Teaching methods and learning activities

Theoretical and theoretical-practical learning.
Theoretical classes are expository enabling integration of the globality of the information. The exhibition is performed using the appropriate software presentations and thematic videos. 
Theoretical pratical classes are held using cognitive strategies for reading texts, matters group discussionand for completion and presentation of group work.With reading and discussion of texts and matters is intended to anticipate information present in the texts, to formulate and reformulate hypotheses by the student and to confirm or reconstruct ideas for achieving the information present in the texts. The group work presentation aims that students acquire skills that enable reflection, control and integration in work teams.
Theoretical evaluation (A)(final written exam) and theoreticalpratical evaluation (B)(continuous evaluation – B1 and oral presentation of written work – B2).
Valuation form:A [50%]+ B[50%(25%B1 + 25%B2)].

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	50,00
Trabalho de campo	25,00
Trabalho escrito	25,00
Total:	100,00

Amount of time allocated to each course unit

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

Eligibility for exams

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 the developed work.
The course grade is 0 to 20 and obtained by the following formula:
Continuous assessment (25%) + Evaluation oral presentation (25%)

Assiduity

Force the general scheme of attendance at FMDUP.

FINAL NOTE

The note is obtained using the following formula:
Rating T (50%) + TP Rating (50%)

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.