| CODE | MLS2002 | ||||||||||||
| TITLE | Molecular Biology/Genetics | ||||||||||||
| UM LEVEL | 02 - Years 2, 3 in Modular Undergraduate Course | ||||||||||||
| MQF LEVEL | 5 | ||||||||||||
| ECTS CREDITS | 4 | ||||||||||||
| DEPARTMENT | Applied Biomedical Science | ||||||||||||
| DESCRIPTION | This study-unit introduces students to the principles of genetics and genetic inheritance, as well as to the principles underlying genetic laboratory techniques and their application in the clinical and research fields. The genetics dealt with in this study-unitfocuses on human genetic disorders. Content: • Introduction to molecular biology and genetics • Clinical Genetic testing. Probands, families, pedigrees and populations. Genetic counselling, incidental findings in an era of high throughput sequencing • Structure of DNA and organisation of the human genome, mitochondrial DNA, gene structure and mobile genetic elements • The Genetic Code and Genetic Variation (Effect of location of genetic variants, types of genetic variation and their consequences) • Modes of Inheritance (Mendelian, Non-Mendelian, Complex diseases) • Cytogenetics • Methods of genetic testing (DNA isolation, melting temperature, PCR and post-PCR techniques) • Advanced techniques: High Throughput Sequencing and determining pathogenicity of genetic variants, CRISPR • Applications of Genetic Diagnostics, examples of genetic diseases and the techniques applied in their diagnosis • Cell cycle biology and DNA replication • Mutation and repair: Mechanisms of Mutagenesis, DNA repair systems • Population Genetics, Hardy-Weinberg Equilibrium, Linkage disequilibrium, Family vs Case/Control studies in gene discovery, Genetic Drift • Gene expression: transcription, splicing, translation, post translational modification • Control of gene expression (Prokaryotic, eukaryotic and the role of RNA) • Cancer genetics • Potential and pitfalls of gene therapy Learning Outcomes By the end of this study-unit, students should be able to: • Define key terms related to genetics; • Recognise different types of genetic variation and how to test for them; • Describe, discuss and explain concepts related to the field of genetics including the modes of genetic inheritance, mutagenesis, control of gene expression; • Describe methods used for identification of genetic variants, discuss their advantages and disadvantages and apply these techniques in a laboratory setting; and • Describe and discuss advantages of and issues related to high throughput sequencing. Reading List: • Gardner A & Davies T. Human Genetics (2nd Edition), 2009. Scion Publishing Ltd (ISBN 1904842739) • Reece RJ. Analysis of Genes and Genomes, 2004. Wiley (ISBN 978-0-470-84380-2) • Klug WS et al. Concepts of Genetics (11th Edition), 2014. Pearson (ISBN 0321948912) |
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| STUDY-UNIT TYPE | Lecture and Tutorial | ||||||||||||
| METHOD OF ASSESSMENT |
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| LECTURER/S | Rosienne Farrugia Karen Muscat Brendon Scicluna |
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The University makes every effort to ensure that the published Courses Plans, Programmes of Study and Study-Unit information are complete and up-to-date at the time of publication. The University reserves the right to make changes in case errors are detected after publication.
The availability of optional units may be subject to timetabling constraints. Units not attracting a sufficient number of registrations may be withdrawn without notice. It should be noted that all the information in the description above applies to study-units available during the academic year 2023/4. It may be subject to change in subsequent years. |
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