Genetics of Disease - BIO00090H

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Module summary

This module focuses on linking gene mutations and the resulting pathological mechanisms underlying rare genetic diseases and how this can inform our understanding of more complex and common diseases. The module will cover Mendelian genetics, pre- and post- conception de novo mutations through concrete examples of rare disorders spanning from brain disorders to blood cancers. The cutting edge research themes covered are currently under active investigation in the Biology Department and will serve as a platform to understand current technologies, approaches and models to link genetic mutations to pathology mechanisms. This can ultimately lead to better diagnostics and the development of novel therapies. Through a series of lectures and workshops students will study and critically review the scientific literature  to understand advantages and limitations of models and approaches used in research. 

Module will run

Occurrence	Teaching period
A	Semester 2 2026-27

Module aims

With the rise of genome sequencing methods, it is now accepted that nearly all diseases have a

genetic component, either driving the pathology as in inherited or de novo genetic diseases or conferring a predisposition to specific pathologies. Specifically, we are now able to sequence genomes at high speed and accuracy, allowing the identification of rare genetic disorders at an unprecedented rate. This module will cover how mutations can be linked to the development of rare diseases, such as childhood brain diseases, rare cancers and sleep disorders. We will dive into the pathomechanisms of those diseases, drawing connections between the affected genes and the resulting disruption in biological processes, such as neuroinflammation, cytoskeletal changes, circadian rhythm impairment, blood stem cell heterogeneity depletion. Research-driven content will be paired with analysis of research articles, comparing models and methods used to discuss future next steps. Due to their rarity, many of the studied diseases do not have approved therapies, this will be used as a discussion platform to critically analyse the available literature to plan for therapies during journal club-like interactive workshops.

Module learning outcomes

1. Explain the different types of genetic alterations found in human diseases.

2. Understand the biological mechanisms of human diseases arising from gene expression alterations across the themes of neurological disorders and cancer.

3. Discuss the challenges and successes in developing therapies for genetic diseases

4. Critically assess experimental data and methods relating to genetic disease models and how this impacts development of novel therapies.

5. Understand how hypotheses are formulated based on preliminary data.

Indicative assessment

Task	% of module mark
Essay/coursework	100.0

Special assessment rules

None

Indicative reassessment

Task	% of module mark
Essay/coursework	100.0

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.