Molecular Identification and Diagnosis

Objectives

1. Get acquainted with the various methodologies for molecular identification;

2. Identify the main DNA markers;

3. Identify the methods for collecting and handling of biological samples for identification and diagnosis

4. Discuss the application of molecular methods to situations of identification;

5. Recognize the importance of genetic testing in the diagnosis and prevention of disease;

6. Discuss various methods of mutation analysis, analyzing the advantages / disadvantages of each;

7. Classify the various types of molecular tests;

8. Understand the principles behind the construction of diagnostic algorithms;

9. Discuss the various issues to consider when offering a diagnostic test;

10. Identify the main issues related to quality in genetic testing;

11. Analyze the key issues associated with the provision of "direct to consumer" tests.

Program

1. Fundamentals of genetics;

2. Methods of molecular identification;

3. Main types of markers;

4. Key DNA markers for molecular identification;

5. Molecular identification: Bacteria, Fungi, Forensic Investigation, Certificate of origin, Biodiversity and conservation of the species, "DNA barcoding";

6. The importance and impact of genetic testing;

7. Categories of molecular tests;

8. Technical Aspects of molecular testing;

9. Diagnostic algorithms: case studies;

10) Commercialization of Molecular Diagnostics.

Teaching Methodologies

The course will be held in two parts, the first focusing on the theme of molecular identification (4 hours of lectures and 4 theoretical and practical), and the second theme in the molecular diagnosis (4 hours of lectures and 4 theoretical and practical). Theoretical sessions are expository in character, nevertheless promoting discussion and looking for an active participation of students. In theoretical and practical classes students are asked to read and discuss articles related to the topics presented and participate in developing a molecular test in the laboratory.

Bibliography

Hartl D. & E. W. Jones, 2009. Genetics. Analysis of genes and genomes, 9th Ed, Jones and Bartlett Publishers, Boston.

Watson J.D., Baker T.A., Bell S.P. & Gann A. 2008. Molecular Biology of the Gene, 5th Ed, Pearson Benjamin Cummings.

Elles, R. & R. Mountford (Ed.) (2004). Molecular Diagnosis of Genetic Disease, Springer Science & Business.

Strachan, T. & A. Read (2012). Human Molecular Genetics, Fourth Edition. Garland Science.

Hyperlinks

SNPs: Variations on a Theme. National Center for Biotechnology Information:

http://www.ncbi.nlm.nih.gov/About/primer/snps.html.

Molecular Databases: http://ihg.gsf.de/ihg/databases.html

Molecular Diagnostics: http://www.sciencedirect.com/science/book/9780123694287

Forensic DNA Typing: http://www.all-about-forensic-science.com/forensic-dna.html

Use of DNA in Identification: http://www.accessexcellence.org/RC/AB/BA/Use_of_DNA_Identification.php

The Evaluation of Forensic DNA Evidence: ttp://books.nap.edu/openbook.php?record_id=5141&page=