BI3BA7-Medical Genetics

Module Provider: School of Biological Sciences
Number of credits: 10 [5 ECTS credits]
Terms in which taught: Autumn term module
Non-modular pre-requisites: A background of basic genetics, also some knowledge of molecular cell biology
Modules excluded:
Module version for: 2016/7

Module Convenor: Prof Philippa Darbre


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.

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 100.00
Total hours for module 100.00

Summative Assessment Methods:
Method Percentage
Written exam 80
Written assignment including essay 20

Other information on summative assessment:
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.
The Module Convenor will apply the following penalties for work submitted late, in accordance with the University policy.
  • where the piece of work is submitted up to one calendar week after the original deadline (or any formally agreed extension to the deadline): 10% of the total marks available for the piece of work will be deducted from the mark for each working day (or part thereof) following the deadline up to a total of five working days;
  • where the piece of work is submitted more than five working days after the original deadline (or any formally agreed extension to the deadline): a mark of zero will be recorded.

  • The University policy statement on penalties for late submission can be found at:
    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.

    Length of examination:
    A two hour examination

    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:
    2) Specialist equipment or materials:
    3) Specialist clothing, footwear or headgear:
    4) Printing and binding:
    5) Computers and devices with a particular specification:
    6) Travel, accommodation and subsistence:

    Last updated: 21 December 2016

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