Human Molecular Genetics

Recommended Prerequisites

Cellular and Molecular Biology    

Teaching Methods

The course is based on three 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;

iii) Laboratorial classes using methodologies for immunological diagnostics, including flow cytometry.   Analysis and interpretation of the results.    

Learning Outcomes

(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 understand the principles of Human Genome Project; (v) to discuss about how mutations arise, their effects on phenotype and methodologies available to detect mutations; (vi) to discuss how genetics can be applied to individual identification and relationship analysis; (vii) to discuss the future potential of Human Genetics and it’s ethic dilemmas; (viii) to develop student’s capacities to solve problems.
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)

Isabel Maria Marques Carreira

Assessment Methods

Final assessment
Exam: 100.0%

Bibliography

Strachan and Read (2010). Human Molecular Genetics, 4td Edition, GS Garland Science, London and New York.

Connor and Ferguson-Smith (2011). Essential Medical Genetics. 6th Edition, Blackwell Scientific.

Oxford, UK- Lecture notes or articles will be supplied whenever needed.