| CODE | PAT5030 |
| TITLE | Human Genomics and Genetics Medicine |
| UM LEVEL | 05 - Postgraduate Modular Diploma or Degree Course |
| MQF LEVEL | 7 |
| ECTS CREDITS | 8 |
| DEPARTMENT | Pathology |
| DESCRIPTION | The teaching programme is intended to give the students an in-depth review of fundamental and advanced concepts in genetics, genomics and molecular biology. The study-unit will cover: - DNA/RNA physiology - Mendelian and non-Mendelian inheritance - Single gene and complex disorders - Differential gene control - Mechanisms of genetic diseases - Molecular Diagnostic approaches - Identification of causative genes and marker genes - Association and linkage studies Learning Objectives: By the end of the study-unit the student should have a critical understanding of human genetics and genomics including the fudamental physiology of DNA and many elements of differential gene control, The mechanisms of genetic disease in terms of molecular patho-physiology and the molecular diagnostic approach. Students should at least be familiar with the scope and limitations of the experimental methods employed. Reading List: - Atherly, A. G., Girton, J. R., & McDonald, J. F. (1999). The science of genetics. Saunders College Publishing. ISBN: 0030332222. - Freifelder, D. (1985). Essentials of molecular biology. Jones and Bartlett Publishers. ISBN: 0867200510. - McConkey, E. H. (1993). Human genetics: The molecular revolution. Jones and Bartlett Publishers. ISBN: 0867208546. Students should also consult current issues of the European Journal of Human Genetics, the American Journal of Human Genetics, Nucleic Acids Research and any others as directed. Students are also referred to significant websites such as online Mendelian Inheritance in Man (OMIM). |
| STUDY-UNIT TYPE | Lecture and Tutorial |
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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 Units not attracting a sufficient number of registrations may be withdrawn without notice.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 2025/6. It may be subject to change in subsequent years. |
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