Population Genetics and Disease

Code:

OPT15

Acronym:

GPD

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2017/2018 - 2S

Active?	Yes
Responsible unit:	Departamento de Patologia
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	13	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	2	-	1,5	14	40,5
			3

Teaching language

Portuguese

Objectives

- Understand how the knowledge of the global genetic diversity is essential for inferring the genetic causes of certain complex diseases

- Describe the genetic factors responsible for the familiar forms of cancer and distinguish from the sporadic cases

- Design an evaluation study of the genetic susceptibility to a particular disease in a specific population, by using the new genotyping methods

- Use computer tools to explore the worldwide genetic diversity and the heterogeneity in the genetic susceptibility to diseases

- Judge ethical implications of the investment in diagnosis and treatment of diseases prevalent of certain population groups

- Discuss implication of a personalised medicine – costs, expectations, benefits and broad access

Learning outcomes and competences

The student will acquire the basal concepts of population genetics applied to the study of genetic susceptibility to complex diseases. This interaction was intensified by the recent technological leap in the genotyping methodologies and in the bioinformatic analyses in the new genomics era. It is essential that the student is introduced to the new methodologies and international consortia, and that he/she explores the computer resources generated by these platforms of open-resource conception. The seminars based on discussion of opinion papers will allow the discussion of personalised medicine, investment in diagnosis and treatment of particular diseases of population groups, of the genome-environment interaction and ethical issues about the access to genomic data of clients by insurance companies.

Working method

Presencial

Program

1- Introduction to types of polymorphisms and methods of genotyping in the new genomics era.

2- Definition of genetic and demographic factors that control genetic diversity.

3- Description of human evolution and worldwide genetic diveristy.

4- Evaluation of genetic susceptibility of human population groups:
. Examples of population heterogeneity in prevalence of diseases and their genetic cause - cancer, diabetes and infectious diseases
. Interaction genetics-environment and alteration of patterns of disease in population groups inhabiting in locations apart from the ancestral home (as Afro-Americans).
. Statistical power of genome-wide association studies in mixed populations.

5- Presentation of projects "Human Genome", "HapMap", "1000 Genomes" and “International Cancer Genome Consortium”, and consultation of webpages.

6- Discussion of the challenges of integration of the genetic profile of the patient in the diagnostic and treatment - towards a personalized medicine.

Mandatory literature

Jobling M, Hollox E, Kivisild T, Tyler-Smith C, Hurles M ; Human Evolutionary Genetics: Origins, Peoples and Disease, Garland Publishing Inc, 2013

Complementary Bibliography

Cavalli-Sforza LL, Menozzi P, Piazza A ; The History and Geography of Human Genes, Princeton University Press, 1996

Teaching methods and learning activities

Lectures (5 hours), theoretical-practical (3 hours) classes and seminars (5 hours) with discussion of papers

Evaluation (1 hour): written exam – multiple-choice and short answer questions.

Evaluation Type

Evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	100,00
Total:	100,00

Calculation formula of final grade

100% Written exam