2025/26 Undergraduate Module Catalogue

BLGY3153 Advanced Topics in Human Genetics and Epigenetics

20 Credits Class Size: 120

Module manager: Chris West
Email: c.e.west@leeds.ac.uk

Taught: Semester 1 (Sep to Jan) View Timetable

Year running 2025/26

This module is not approved as a discovery module

Module summary

The human genome provides the instructions for life. However, the genome to subject to both programmed and unprogrammed changes at the genetic and epigenetic levels, resulting in dynamic changes including altered gene expression, mutation and structural rearrangements. This module will investigate these mechanisms, providing fundamental insight into cellular function, cytogenetic abnormalities and cancer, including clinical diagnosis of genetic diseases.

Objectives

The aims of this module are as follows:

- To develop an understanding of epigenetic mechanisms in normal human physiology and in disease
- To investigate recombination and generation of diversity in the immune system, including in cancer;
- To develop insight into DNA damage, repair and recombination, including mechanisms leading to genome instability
- To discuss cancer including mutagenesis, telomere biology and targeted therapies
- To explain clinical analysis of genetic diseases, including methods of genetic diagnosis and examples of genetic testing.

Learning outcomes

On successful completion of the module students will have demonstrated the following learning outcomes:

1. Describe the roles of repair and recombination mechanisms in genome stability and programmed genetic variation.
2. Discuss the epigenetic control of gene expression in humans.
3. Evaluate the current limitations of knowledge in human genetics and identify gaps in current research.
4. Analyse next generation sequence data to determine molecular pathways of recombination

Skills Learning Outcomes

On successful completion of the module students will have demonstrated the following skills learning outcomes:

5. Assess and communicate the current experimental approaches and research findings related to genome dynamics
6. Demonstrate critical analysis skills to scientific literature in the field of clinical analysis of chromosome syndromes, prenatal diagnoses, genetic testing and molecular diagnoses.

Syllabus

Details of the syllabus will be provided on the Minerva organisation (or equivalent) for the module.

Teaching Methods

Delivery type Number Length hours Student hours
Lecture 22 1 22
Practical 3 1 3
Private study hours 175
Total Contact hours 25
Total hours (100hr per 10 credits) 200

Opportunities for Formative Feedback

Practice data for the computer practical.

Methods of Assessment

Coursework
Assessment type Notes % of formal assessment
Coursework . 50
Coursework Online Time-Limited Assessment 50
Total percentage (Assessment Coursework) 100

The OTLA will be based on data analysis. A computer practical write up based on the analysis of next generation sequence data.

Reading List

The reading list is available from the Library website

Last updated: 14/03/2025

Errors, omissions, failed links etc should be notified to the Catalogue Team