Orofacial Genetics

Code:

MD51002

Acronym:

GO

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2009/2010 - 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	43	Plano de Transição 4º Ano Bolonha 2007	5	-	3	45	81

Teaching language

Portuguese

Objectives

To integrate the dentist in a multidisciplinary team that cares for the genetically committed individual.
To provide diagnosis capacity and prevention of the disease to the dentist, in order to identify the individuals at risk.
To give formation to the dentist so that he can understand the phenomena that can change, influence, mimic or disguise the
manifestation of a genetic characteristic and/or its heredity patterns.
By a systematic stimulus to self-learning and by the promotion of research parallel activities, this subject will
allow the development of the student's curiosity for knowledge and his critical attitude in searching for knowledge.

Program

1. Historical evolution and introduction to Orofacial Genetics.
2. The notion of gene, loci and chromosome.
3. The face and genetic diseases.
4. Hereditary dental pathology: anomalies in dental eruption an on teeth number.
5. Hereditary dental pathology: anomalies in the form and the size of the teeth.
6. Hereditary dental pathology: anomalies in the structure of the teeth - Amelogenesis imperecta (types and subtypes).
7. Hereditary dental pathology: anomalies in the structure of the teeth –Dentinogenesis imperfecta.
8. Hereditary dental pathology: anomalies in the structure of the teeth - Displastic Dentin.
10. Hereditary periodontal pathology: hereditary gum fibromatosis and syndrome with gum components.
11. Cleft lip and/or palate. Genetic etiology and recurrence risk. The importance of the associated malformations and of genetic advice.
12. Down Syndrome. The most important features for Dental Medicine. Aspects to take into consideration in the doctor's appointment and precautions to take. Evaluation of the kind of support to give to the patient.
13. Genetic changes of the skin and oral manifestations – Focal Ectodermic, Gorlin syndrome, Neurofibromatosis, Tuberous Esclerosis.
14. Genetic changes of the skin and oral manifestations - Ito Hypomelanosis, Incontinentia pigmenti, Hyperqueratosis, Congenital Disqueratosis, White Nevus, Epidermolisis.
15. Genetic changes of the skin and oral manifestations – ectodermic displasia.
16. Hereditary pathology of the tongue. Definition, clinical features, kind of heredity and associated syndromes.
17. Genetic changes of the collagen with skin and oral cavity manifestations - Ehlers-Danlos syndrome.
18. Syndromes with gastro-intestinal pathology and oral manifestations.
20. Syndromes with ocular manifestations and orofacial expression.
21. Syndromes with hypotiroidism or with short-size. Types of herance.
22. Syndrome with orofacial expression with a special interest for the dentist.
23. How to act before genetic diseases? Ways of prevention. Current perspectives of treatment. Genetic therapy. Genetic advice: the procedure, the diagnosis, genealogical analysis, estimate of the recurrence risks,options, medical support services.
24. Vertical discussion of the themes. Ethical preoccupations. Examples.

BIBLIOGRAPHY
1.Lewis R. Human Genetics - Concepts and Applications. Seventh Edition. Boston, Madrid, London. Mc GrawHill, 2008.
2.Gorlin RJ, Cohen MM JR, Levin LS, ed. Syndromes of the Head and Neck, Third Edition. New York, Oxford: Oxford University Press, 1990. www.amazon.com
3.Buyse ML, MD et al., ed. Birth Defects Encyclopedia Vol. 2. Massachusets, Oxford, London, Edinburgh, Carlton: Blackwekk Scientific Publications, 1990. www.amazon.com
4.Kurisu K, Tabata MJ: Human genes for dental anomalies. Oral Dis 1997; 3: 223-228.
5.Laskaris G, ed. Color Atlas of Oral Diseases in Children and Adolescents. Stuttgart, New York: Thieme, 2000.
6.Scully C, Welbury R, Flaitz C, Paes de Almeida O, ed. Orofacial health et disease in children and adolescents. St.Louis, London: Martin Dunitz Ltd, 2002.

Mandatory literature

Lewis Ricki; Human genetics
Laskaris George; Color atlas of oral diseases in children and adolescents. ISBN: 0-86577-789-6

Teaching methods and learning activities

Theoretical learning
1 weekly theoretical class, one hour.

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

The theoretical and practical work with two main objectives - discussion of scientific papers relevant for this subject and observation of patients with genetic diseases provided by the FMDUP Clinic.
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:
. Oral scientific presentations: preparation and presentation of a topic on Orofacial Genetics(compulsary)
. Monographs: written development of the oral scientific presentation (optional)
. Webpage: topic on Orofacial 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 (optional).

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	37,50
	Total:	-	0,00

Eligibility for exams

EVALUATION

Theoretical (compulsory) and theoretical-practical evaluation (compulsory).

Theoretical evaluation (T)
Made through a multiple-choice examination with five or more sub-headings. Each wrong choice lessens 1/4 of the value of the correct sub-heading. This examination will be scored in a scale of 0 to 20.

Theoretical-ractical evaluation (TP)
Given by the teacher in charge according to the work done by the student. Marks go from 0 to 20, values distributed on 3 parameters: theoretical -practical work, participation and behavior, resolution of problems / issues on matters of theoretical-practical classes.

FINAL NOTE
- currricular Each type of theory and practice.
- Final note = (theoretical evaluation x 0.45) + average (theoretical - practical work continuous assessment +) x 0.45 + (attendance x 0.1).

RE-EVALUATION OF EXAMS AND POSSIBLE CONTESTATION OF MARKS

Students who want to contest the final mark, can do it on a set time indicated by the teachers in charge.

Calculation formula of final grade

Force the rules for obtaining frequency FMDUP.

Examinations or Special Assignments

Work are not covered nor is special. Obtaining approval to the discipline is governed by the same criteria for all students except those enrolled in the special We contemplate the FMDUP.

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 a scan with the theoretical and theoretical-practical discipline, keeping the same evaluation criteria applied to the exam.

Observations

Professor Purificação Tavares - Regent Professor of Medical Genetics and Orofacial FMDUP, Phd Medical Genetics.
Doctor Paula Vaz - Invited Assistantof Medical Genetics and Orofacial FMDUP.