Human Genetics

Recommended Prerequisites

Cellular and Molecular Biology.    

Teaching Methods

The course is based on two types of classes:

 i) Theoretical classes, where the different course subjects are presented and discussed;

ii) Theoretical and practical classes focused on the presentation and discussion of scientific papers, for clarification and application of the concepts discussed in the theoretical ones.

Learning Outcomes

The main goals are:

(i) to discuss about the application of Human Genetics to the diagnostics, counselling and therapy of the genetic diseases; (ii) to identify the multiple applications of cytogenetics/molecular cytogenetics; (iii) to understand the techniques used to characterize genes involved in diseases; (iv) to discuss about how mutations arise, their effects on phenotype and methodologies available to detect mutations; (v) to discuss how genetics can be applied to individual identification and relationship analysis; (vi) to discuss the future potential of Human Genetics and it’s ethic dilemmas; (vii) to develop student’s capacities to solve problems.

Therefore, it is intended to provide solid knowledge about the following topics: Human genetics; Cytogenetics; Population genetics; Genomics; Mapping of genetic diseases; Forensic genetics; State of the art of research in human genetics; Ethics and implications of diagnosis and research for the society.    

Work Placement(s)

No

Syllabus

Lectures:

1. Objectives of the teaching of Human Genetics

2. Cell Cycle. Mitoses, meiosis and gametogenesis

3. General structure of human chromosomes

3.1 Structure and function of nucleic acids

3.2 Mechanisms of gene expression

4. Hereditary

4.1 Mendelian inheritance

4.2 Non Mendelian inheritance

4.3 Heredograms and forms of transmission

5. Population Genetics

6. Forensic genetics and applications in legal medicine

7. Gene mapping, linkage

7.1 Sequencing and bioinformatics

7.2 Proteomics; Metabonomics; Patomics; Poliomics

7.3 The Human Genome Project (HUGO)

8. Structure and morphology of human chromosomes

8.1 Main techniques to obtain human karyotypes

8.2 Chromosome nomenclature

8.3 Numerical and structural chromosomal alterations and its implications in pre and post natal diagnosis Lectures and problem-solving classe

Practical applications. Discussion andinterpretation of laboratory analysis results of several clinical reports.

Head Lecturer(s)

Maria Celeste Fernandes Lopes

Assessment Methods

Assessment
Exam: 100.0%

Bibliography

Genética Molecular Humana; Tom Strachan, Andrew Read; 4ª Edição; 2013; editora Artmed
Thompson & Thompson Genetics in Medicine; Robert Nussbaum,  Roderick R. McInnes, Huntington F Willard; 7th edition; 2007
Oxford, UK- Lecture notes or articles will be supplied whenever needed