Medical Genetics - BIO00071I

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Module summary

The Medical Genetics module will explore the link between genetics and disease. A wide-range of disorders will be included, from the relatively common to the very rare. The module will introduce the human genome and sources of genetic variation and mutation. We will consider genetic diseases, starting with simple single-gene Mendelian disorders before moving on to look at a range of more complex disorders and discussing the challenge of identifying disease-causing variants. How animal models are created and used to study genetic disease will be explored. This knowledge will be built upon to consider current advancements in gene therapy. Throughout the module we will be using case studies and discussing experimental approaches in medical genetics, including the use of modern sequencing, bioinformatics and DNA manipulation technology. We will highlight ethical considerations throughout.

Module will run

Occurrence	Teaching period
A	Semester 2 2025-26

Module aims

Genetics plays a role in all disease. The module therefore aims to develop understanding of topics of specific relevance to medical genetics and disease biology. Knowledge of genetics, cell and organismal biology will all be enhanced in addition to problem-solving skills and critical thinking. The module will highlight the importance of genetic variation and mutations in health and disease, as well as demonstrating the power of current genetic technologies in understanding disease pathology and developing therapeutics.

Module learning outcomes

• Understand consequences of mutation and chromosome abnormality

• Explain and interpret Mendelian and non-Mendelian genetic disease examples

• Compare prenatal testing and screening approaches

• Explain how tools such as DNA sequencing, bioinformatics and the creation of animal models can be used to identify and study disease-causing mutations

• Summarise and appraise current gene therapy approaches

• Apply module knowledge to novel scenarios

Indicative assessment

Task	% of module mark
Essay/coursework	100

Special assessment rules

None

Indicative reassessment

Task	% of module mark
Essay/coursework	100

Module feedback

Marks for all summative assessments will be made available to you and your supervisor via e:vision. Feedback will be either individual or cohort-level, depending on the assessment format. You should take the opportunity to discuss your marks and feedback with your supervisor.

For exam-style summative assessment, model answers will be provided for all questions along with cohort-level feedback indicating how students answered questions in general. Marks achieved per question will be added to your script.

For coursework assessments (eg. reports or essays) you will receive individual feedback on your work. This will usually be in the form of a feedback sheet that will include suggestions for further improvement.

During the teaching of the module you will receive formative feedback that may be at a whole class or individual level. Such feedback may include: model answers and discussion of workshop questions, summaries of performance in practicals, VLE-based quizzes, individual spoken comments during workshops, individual written comments on formative work.

Indicative reading

These are available through the VLE module site.