Você está em: Start > MIMD020104
Site map
Medical Genetics
| Code: | MIMD020104 | Acronym: | GENMED |
| Keywords | |
|---|---|
| Classification | Keyword |
| OFICIAL | Biology |
Instance: 2020/2021 - 1S
| Active? | Yes |
| 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 | 62 | Official Plan from the academic year 2020/2021 | 2 | - | 4 | 54 | 108 |
| NÃO INSCREVER - Plano exclusivo para uso administrativo | 2 | - | 4 | 54 | 108 |
Teaching language
PortugueseObjectives
Students should have knowledge and skills that enable them to:
- Develop a modern concept of health and its determinants of hereditary nature;
- Acquire the ability to locate and analyze the main genetic pathologies in Portugal in the context for health promotion;
- Understand the attitudes taken in genetic counseling related to health education and the prevention of disease and its complications;
- Identify the etiology of the major resources and diagnostic techniques of genetic alterations and/or genetic pathology;
- Identify the main risk factors that may contribute to the emergence of a number of multifactorial diseases;
- Make a correct information transmission to patients and family that concerns them, once the situation is defined by the geneticist.
Learning outcomes and competences
The proposed syllabus intend that the student at the end of the curricular unit holds knowledge about the inheritance of normal and pathological human characteristics, has skills on the basic principles of Genetics and applications of Genetics in Medicine and Dentistry and, thus, acquires awareness of social issues and ethics in relation to the application of Genetics.
The student should also develop knowledge on the pathogenesis, diagnosis means and techniques of genetic diseases and learn to convey dental medical information relevant in this area, once determined the situation by the Geneticist.
Working method
PresencialPre-requirements (prior knowledge) and co-requirements (common knowledge)
The proposed syllabus intend that the student at the end of the curricular unit holds knowledge about the inheritance of normal and pathological human characteristics, has skills on the basic principles of Genetics and applications of Genetics in Medicine and Dentistry and, thus, acquires awareness of social issues and ethics in relation to the application of Genetics.
Program
Human Genetics history. Gene regulation. Genetics applications. Molecular evolution. Genome organization. Gene concept. Nucleic acids - structure an analysis. Nucleic acids expression and analysis. Mutation and genomic variation. Genetic pathology classification. Mendelian and no mendelian inheritance. Extensions/exceptions to Mendel's laws. Sex-linked transmission. Cytogenetic techniques. Chromosomal pathology. Chromosomal syndromes resulting from microdeletions. Most common monogenic syndromes. Population Genetics. Cystic fibrosis. Neurodegenerative and neuromuscular diseases. Muscular dystrophies. Lipid alterations, genes and environment.Mucopolysaccharidoses. Genetic tests in Medicine and Dentistry. Changes in the amino acids metabolism. Hemoglobinopathies. Neonatal Screening. Hypothyroidism and phenylketonuria. Genetics of cancer. Pre-natal diagnosis. Congenital Malformations. Infertility and Assisted Reproduction Technologies. Genetic Probes. Genetic counseling.
Mandatory literature
Lewis Ricki; Human genetics concepts and applications., McGrawHill Higher Education (20ª Edição), 2018Strachan T. Read AP; Human molecular genetics - Concepts and Applications, Bios (2ª Edição), 2009
Peter Turnpenny; Emery.s elements of medical genetics. ISBN: 978-0-7020-4043-6
Jorde, Carey, Bamshad, White; Medical Genetics, Elsevier, 2016. ISBN: 13: 978-0323188357
Nussbaum, Robert; McInnes Roderick; Willard, Huntington. ; Thompson & Thompson Genetics in Medicine, Elsevier , 2016. ISBN: 978-1-4377-0697- 3
Complementary Bibliography
Lambert C, Baker D, Patrinos GP. ; Human Genome Informatics: Translating Genes into Health (Translational and Applied Genomics)., Elsevier, 2018. ISBN: 13: 978-0128094143Goodwin W, Linade A, Hadi S.; An introduction to forensic genetics., Wiley (2ª Edição), 2010
Inês Côrte-Real, Ana Cristina Braga, Rosete Nogueira, António Felino, Francisco Valente, Paula Vaz; Growth pattern of the philtrum in cases of normal and pathological fetal development, Revista Portuguesa de Estomatologia, Medicina Dentária e Cirurgia Maxilofacial, 2016
Mariana Seabra, Paula Vaz, Francisco Valente, Ana Braga, António Felino; Two-Dimensional Identification of Fetal Tooth Germs, The Cleft Palate-Craniofacial Journal, 2017
Teaching methods and learning activities
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 discussion and 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.
Evaluation Type
Distributed evaluation with final examAssessment Components
| Designation | Weight (%) |
|---|---|
| Participação presencial | 25,00 |
| Exame | 50,00 |
| 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 escrito | 3,00 |
| Total: | 12,00 |
Eligibility for exams
Force the rules for obtaining frequency FMDUP.
The frequency acquisition to the Curricular Unit is only possible after accomplishment of the evaluation of the two components (T and TP).
Approval for the Curricular Unit is only possible with a minimum grade end of 9.5, with a mandatory minimum score of 9 values for each of the components T and TP.
Approval for the Curricular Unit is only possible with a minimum grade end of 9.5, with a mandatory minimum score of 9 values for each of the components T and TP.
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 of a written work (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%)
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.
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 of a written work (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%)
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.
Copyright 1996-2024 © Faculdade de Medicina Dentária da Universidade do Porto
I Terms and Conditions
I Acessibility
I Index A-Z
I Guest Book
Page created on: 2024-11-09 at 07:50:19 | Acceptable Use Policy | Data Protection Policy | Complaint Portal
Page created on: 2024-11-09 at 07:50:19 | Acceptable Use Policy | Data Protection Policy | Complaint Portal