BI3BA7-Medical Genetics

Module Provider: School of Biological Sciences
Number of credits: 10 [5 ECTS credits]
Level:6
Terms in which taught: Autumn term module
Pre-requisites:
Non-modular pre-requisites: A background of basic genetics, also some knowledge of molecular cell biology
Co-requisites:
Modules excluded:
Current from: 2023/4

Module Convenor: Dr Dyan Sellayah
Email: d.sellayah@reading.ac.uk

Type of module:

Summary module description:

This 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.

Aims:

This 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.

Assessable learning outcomes:
Lectures will provide an overview of selected disorders but students will be expected to read around the subject beyond lecture material. There will be an emphasis throughout of how an understanding of the molecular cell biological basis of disease can be used to improve prognosis for those with inherited disease or susceptibility to disease. There will be discussion of the interaction between genetic factors and the environment in determining the outcome of disease.

Additional outcomes:
The use of self-directed learning will help students develop critical thinking and an ability to assess published material. The in-course assessment aims to provide students with practice and feedback on writing of essays under timed examination conditions. All skills are transferable to the workplace and should make students more employable.

Outline 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. Students will research other conditions in mini-research projects which are formative, not summative.

Brief description of teaching and learning methods:

Contact hours:

	Autumn	Spring	Summer
Lectures	16
Seminars	2
Supervised time in studio/workshop	2
Guided independent study:	80
Total hours by term	100
Total hours for module	100

Summative Assessment Methods:

Method	Percentage
Written exam	80
Written assignment including essay	20

Summative assessment- Examinations:
A two hour examination

Summative assessment- Coursework and in-class tests:
The in-course assessment will be a written assignment with the aim of providing the student with practice and feedback for answering essay-style examination questions.

Formative assessment methods:

Penalties for late submission:

Not applicable. Coursework will be supervised and timetabled piece of essay writing.

One alternative time will be organised as necessary following approval of extenuating circumstances.

Assessment requirements for a pass:
A mark of 40% overall

Reassessment arrangements:
Re-examination in August / September

Additional Costs (specified where applicable):

1) Required text books:  None

2) Specialist equipment or materials:  None

3) Specialist clothing, footwear or headgear:  None

4) Printing and binding:  None

5) Computers and devices with a particular specification:  None

6) Travel, accommodation and subsistence:  None

Last updated: 30 March 2023