Genetic Epidemiology
Keywords |
Classification |
Keyword |
OFICIAL |
Epidemiology |
Instance: 2021/2022 - 2S (of 07-02-2022 to 15-07-2022)
Cycles of Study/Courses
Acronym |
No. of Students |
Study Plan |
Curricular Years |
Credits UCN |
Credits ECTS |
Contact hours |
Total Time |
MSP |
0 |
Current Studies Plan |
1 |
- |
3 |
27 |
81 |
Teaching language
English
Objectives
Acquisition of knowledge on the fundamental concepts and specific methods of genetic epidemiology. We aim that the students: (i) recognize the importance of Genetic Epidemiology in Medicine and in the Biomedical Research and (ii) are able to interpret a Genetic Epidemiology study from the evaluation of the genetic component to the identification of the genetic factors responsible for that disease.
Learning outcomes and competences
The students should be able to interpret the pedigrees and to recognize the different inheritance patterns of a disease and to estimate the risk for the other relatives. They should have also acquired the knowledge to evaluate familial aggregation of a disease. Also, the students should be able to use the appropriated methodologies to map genes in the genome and to perform association studies. Also the students will be able to estimate allelic and genotypic frequencies in a population. Ultimately, they will able to perform a critical review of a Genetic Epidemiology study and to design an experimental study.
Working method
B-learning
Program
Introduction to Genetic Epidemiology. Fundamental concepts of Genetics. Mendelian inheritance modes. Familial aggregation of a disease. Basic concepts of Population Genetics: Hardy-Weinberg equilibrium. Linkage analysis. Gene mapping in mendelian diseases. Complex diseases: non-parametric linkage and association studies.
Mandatory literature
Vogel F; Human genetics. ISBN: 3-540-60290-9
King Richard A. ed; Genetic Basis of Common Diseases. ISBN: 0-19-512582-7
Khoury, Beaty, Cohen; Fundamentals of Genetic Epidemiology. ISBN: -10: 0195052889
Complementary Bibliography
Strachan & Read; Human Molecular Genetics 4. ISBN: 9780815341499
Comments from the literature
Bibliography will also include scientific papers with relevance to the topics under study
Teaching methods and learning activities
A total of 81 hours of student’s work, of which 27 are of contact, distributed as follows is estimated: T:15 and TP:12.
Evaluation Type
Distributed evaluation without final exam
Assessment Components
Designation |
Weight (%) |
Defesa pública de dissertação, de relatório de projeto ou estágio, ou de tese |
60,00 |
Trabalho escrito |
40,00 |
Total: |
100,00 |
Amount of time allocated to each course unit
Designation |
Time (hours) |
Elaboração de relatório/dissertação/tese |
40,00 |
Estudo autónomo |
14,00 |
Frequência das aulas |
27,00 |
Total: |
81,00 |
Eligibility for exams
To be present in at least 75% of the classes.
Calculation formula of final grade
Students will have to make a critical analysis of a scientific paper, through a written report with oral presentation.
Criteria weighting of each of the evaluation components of the final grade of the course: written report (40%); oral presentation (60%).