Medical Genetics

University of Reading

Course Description

  • Course Name

    Medical Genetics

  • Host University

    University of Reading

  • Location

    Reading, England

  • Area of Study

    Biology, Cell and Molecular Biology

  • Language Level

    Taught In English

  • Course Level Recommendations


    ISA offers course level recommendations in an effort to facilitate the determination of course levels by credential evaluators.We advice each institution to have their own credentials evaluator make the final decision regrading course levels.

    Hours & Credits

  • ECTS Credits

  • Recommended U.S. Semester Credits
  • Recommended U.S. Quarter Units
  • Overview

    Module Provider: School of Biological Sciences
    Number of credits: 10 [5 ECTS credits]
    Terms in which taught: Autumn term module
    Pre-requisites: BI2BK5 Molecular Biology of the Gene: Expression, Function and Analysis
    Non-modular pre-requisites:
    Modules excluded:
    Module version for: 2014/5
    Module Convenor: Dr 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 disributed 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. Lectures will provide an overview of genetic susceptibility to infectious disease and genetic determinants of muscular dystrophies.
    Brief description of teaching and learning methods:
    Contact hours:
    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 70
    Written assignment including essay 30
    Other information on summative assessment:
    Details of in-course assessment:
    The aim of this in-course assessment is to provide the students with practice and feedback for answering essay-style examination questions.
    The in-course assessment will be timetabled in the last week of the Autumn Term. Students will be allocated an examination question to answer under timed examination conditions (one hour). There will be no choice in question to be answered but not all students will answer the same question. However, the exercise will be open book, allowing students to bring whatever material they wish with them into the room to abrogate the need for full revision at the end of a busy term.
    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 Convener 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.
    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 requiring answers to two questions out of four
    Requirements for a pass:
    A mark of 40% overall
    Reassessment arrangements:
    Re-examination in August / September
    Last updated: 17 October 2014

Course Disclaimer

Courses and course hours of instruction are subject to change.

Some courses may require additional fees.

Credits earned vary according to the policies of the students' home institutions. According to ISA policy and possible visa requirements, students must maintain full-time enrollment status, as determined by their home institutions, for the duration of the program.

ECTS (European Credit Transfer and Accumulation System) credits are converted to semester credits/quarter units differently among U.S. universities. Students should confirm the conversion scale used at their home university when determining credit transfer.

Please reference fall and spring course lists as not all courses are taught during both semesters.

Please note that some courses with locals have recommended prerequisite courses. It is the student's responsibility to consult any recommended prerequisites prior to enrolling in their course.


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