BI3BA7: Medical Genetics

Module code: BI3BA7

Module provider: School of Biological Sciences

Credits: 10

Level: Level 3 (Honours)

When you'll be taught: Semester 1

Module convenor: Dr Dyan Sellayah, email: d.sellayah@reading.ac.uk

Pre-requisite module(s): BEFORE TAKING THIS MODULE YOU MUST TAKE BI2BMG4 OR TAKE BI2BCB5 (Compulsory)

Co-requisite module(s):

Pre-requisite or Co-requisite module(s):

Module(s) excluded:

Placement information: NA

Academic year: 2024/5

Available to visiting students: Yes

Talis reading list: No

Last updated: 21 May 2024

Overview

Module aims and purpose

Medical Genetics is concerned with the establishment of the genetic and heritable basis of diseases and disorders. The focus of this module is on understanding how genetic defects at the molecular level impact on pathophysiology and influence disease risk, progression and severity. The module will take an integrated and varied approach to the study of the aetiology of major medical diseases, with focus on both mendelian and complex polygenic disorders. The module also serves to utilise the knowledge of the genetic causes of disease to inform clinical approaches and will also focus on how innovative genomics technologies including genome-wide association studies (GWAS) are revolutionising our understanding of complex genetic disorders and providing new avenues for their treatment and diagnosis. 

The module aims to provide students with a broad understanding of the cellular and molecular basis of hereditary human diseases and an appreciation of gene-environment interactions in determination of outcomes of genetically determined disease. 

Module learning outcomes

By the end of the module, it is expected that students will be able to:

1. Describe how molecular genetic defects (mutations) impact on pathophysiology and disease
2. Describe how specific disease-causing mutations are acquired and discuss how patterns of inheritance impact on disease risk and severity in mendelian disorders
3. Discuss how disease risk and severity maybe influenced by epigenetic and environmental factors in complex polygenic disease
4. Explain how an understanding of the genetic contribution of disease can improve diagnosis and inform treatment approaches
5. Demonstrate how innovative and integrated genomics approaches are being used to provide a greater understanding of the genetic basis of disease as well as presenting new diagnostic and therapeutic opportunities

Module content

The module will begin with an overview of the aims of personalised medicine and gene therapy. The students will then study a range of inherited conditions in more depth including the haemoglobinopathies and inborn errors of metabolism as examples of widely distributed single gene disorders, and genetic susceptibility to cancer as an example of the interaction of genetics with environment. Students will study genetic mechanisms of familial cholesterolaemia and coronary heart disease, the use of genome wide association studies in cardiovascular disease and genetic susceptibility to thrombosis and haemorrhage. 

Structure

Teaching and learning methods

The learning outcomes will be met through a mixture of lectures, self-directed learning and directed independent study. Appropriate supplementary information and reading lists will be provided on Blackboard. 

Study hours

At least 20 hours of scheduled teaching and learning activities will be delivered in person, with the remaining hours for scheduled and self-scheduled teaching and learning activities delivered either in person or online. You will receive further details about how these hours will be delivered before the start of the module.

Please note the independent study hours above are notional numbers of hours; each student will approach studying in different ways. We would advise you to reflect on your learning and the number of hours you are allocating to these tasks.

Semester 1 The hours in this column may include hours during the Christmas holiday period.

Semester 2 The hours in this column may include hours during the Easter holiday period.

Summer The hours in this column will take place during the summer holidays and may be at the start and/or end of the module.

Assessment

Requirements for a pass

Students need to achieve an overall module mark of 40% to pass this module.

Summative assessment

Penalties for late submission of summative assessment

The Support Centres will apply the following penalties for work submitted late:

Assessments with numerical marks

• where the piece of work is submitted after the original deadline (or any formally agreed extension to the deadline): 10% of the total marks available for that piece of work will be deducted from the mark for each working day (or part thereof) following the deadline up to a total of three working days;
• the mark awarded due to the imposition of the penalty shall not fall below the threshold pass mark, namely 40% in the case of modules at Levels 4-6 (i.e. undergraduate modules for Parts 1-3) and 50% in the case of Level 7 modules offered as part of an Integrated Masters or taught postgraduate degree programme;
• where the piece of work is awarded a mark below the threshold pass mark prior to any penalty being imposed, and is submitted up to three working days after the original deadline (or any formally agreed extension to the deadline), no penalty shall be imposed;
• where the piece of work is submitted more than three working days after the original deadline (or any formally agreed extension to the deadline): a mark of zero will be recorded.

Assessments marked Pass/Fail

• where the piece of work is submitted within three working days of the deadline (or any formally agreed extension of the deadline): no penalty will be applied;
• where the piece of work is submitted more than three working days after the original deadline (or any formally agreed extension of the deadline): a grade of Fail will be awarded.

The University policy statement on penalties for late submission can be found at: https://www.reading.ac.uk/cqsd/-/media/project/functions/cqsd/documents/qap/penaltiesforlatesubmission.pdf

You are strongly advised to ensure that coursework is submitted by the relevant deadline. You should note that it is advisable to submit work in an unfinished state rather than to fail to submit any work.

Formative assessment

Formative assessment is any task or activity which creates feedback (or feedforward) for you about your learning, but which does not contribute towards your overall module mark.

Reassessment

Additional costs