Orofacial Genetics

Code:

515

Acronym:

515

Instance: 2004/2005 - 2S

Active?	Yes
Web Page:	http://bragatel.pt/ns014454/genetica
Course/CS Responsible:

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MD	48	Plano oficial a partir de 2000	5	2	4	-

Objectives

SUBJECT AIMS

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

SYLLABUS CONTENT

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.

Main Bibliography

BIBLIOGRAPHY

Lewis R.ed. Human Genetics- Concepts and Applications. Sixth Edition. Boston, Madrid, London. McGrawHill,2005.
Gorlin RJ, Cohen MM JR, Levin LS, ed. Syndromes of the Head and Neck, Third Edition. New York, Oxford:Oxford University Press, 1990.
Buyse ML, MD et al., ed. Birth Defects Encyclopedia Vol. 2. Massachusets, Oxford, London, Edinburgh, Carlton: Blackwekk Scientific Publications, 1990.
Kurisu K, Tabata MJ: Human genes for dental anomalies. Oral Dis 1997; 3: 223-228.
Laskaris G, ed. Color Atlas of Oral Diseases in Children and Adolescents. Stuttgart, New York: Thieme, 2000.
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.

Teaching methods and learning activities

Theoretical learning
Three weekly theoretical class

Compulsory practice
One weekly practical class

In practical classes, students will be able to observe patients with genetic diseases provided by the FMDUP Clinic.

Discussion of scientific papers relevant for this subject.
Students should ask for support for the elaboration of the compulsory scientific assignment until 31st December 2004.
In January 2005 there will be scheduled the oral scientific presentations, which will begin in March 2005.

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
. Monographs: written development of the oral scientific presentation (compulsory)
. 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

Eligibility for exams

See academic regulation.

Calculation formula of final grade

FINAL MARK

The final mark results from the following formula:
Theoretical evaluation x 70% + Practical evaluation x 30%

Examinations or Special Assignments

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
. Monographs: written development of the oral scientific presentation (compulsory)
. 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).

Observations

Teaching staff:



Prof. Doutora Maria da Purificação V. Tavares – Cathedratic Professor

Drª Paula Cristina Santos Vaz – Invited Teaching Assistant