BM7109 - Introduction to Clinical Genetics (2025/26)
| Module specification | Module approved to run in 2025/26 | ||||||||||||
| Module title | Introduction to Clinical Genetics | ||||||||||||
| Module level | Masters (07) | ||||||||||||
| Credit rating for module | 20 | ||||||||||||
| School | School of Human Sciences | ||||||||||||
| Total study hours | 200 | ||||||||||||
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| Running in 2025/26(Please note that module timeslots are subject to change) |
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Module summary
This module provides information and guidance to faciliatate an indepth understanding and knowledge of the theory and practical applications of clinical genetics. It explains UK NHS current approaches to clinical genetics and explores how cutting edge research in this field may impact human health and disease management in the future
Syllabus
Review of the basis of pedigree drawing, risk assessment, risk assessment. Study dysmorphology, chromosome analysis, and biochemical analysis. Prenatal diagnosis, reproductive genetic counselling, prenatal sampling. Application of molecular biology including DNA techniques, genomic, transcriptomic, proteomic methods as well as Southern blotting through to PCR and microarrays. Avoidance and prevention of disease, gene therapy and ethical and social issues in clinical genetics. Pharmacogenetics and personalised medicine development. (LO1-3)
Balance of independent study and scheduled teaching activity
Information pertaining to the subject matter will be presented through an integrated programme of lectures and supporting exercises, together with some use of a problem-based learning approach and the guided use of student-centred learning resources. Lectures will be used to provide a conceptual framework. Student centred assignments will enable students to reinforce and expand their knowledge, and develop subject specific skills and competence.
Learning outcomes
On successful completion of this module students will be able to:
1. Demonstrate though completion of the quizzes an understanding of the processes of prenatal diagnosis by molecular biological techniques and the how risk to progeny is assessed and communicated and show an understanding of complex molecular techniques and when they should be applied in a clinical genetic setting.
2. Apply critical thinking to the analysis of clinical genetic problems with respect to identification of disease genes and show an appreciation of the sensitive ethical and social considerations required when advising parents in clinical genetics context.
3. Demonstrate through the reflective learning journal that they have reflected on their own performance as an independent professional learner.