Studying online

There are now 2 possible online modes for units:

Units with modes Online timetabled and Online flexible are available for any student to self-enrol and study online.

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Unit Overview

Description

This unit provides an overview of the etiology, diagnosis and management of genetic and epigenetic human diseases and provides a framework for understanding the human impact of these diseases. Increasingly, clinicians and medical scientists are required to ensure that genetic investigations yield results that meaningfully address the clinical question that is being asked. The unit offers insight into a range of testing options now available and also the clinical utility of these tests. It also offers insight into the management of families with hereditary disorders, and the range of therapies now emerging for an increasing number of human diseases arising from abnormalities of gene expression. The unit is suitable for students intending to go on to a career in medical research or graduate entry medicine and paraclinical sciences including genetic counselling.

Credit
6 points
Offering
(see Timetable)
AvailabilityLocationMode
Semester 1QEII Medical CentreFace to face
Details for undergraduate courses
  • Level 3 core unit in the Pathology and Laboratory Medicine; Genetics major sequences
  • Level 3 core unit in the Genetics specialisation in the Medical Science major sequence
Outcomes

Students are able to (1) understand the scope of human diseases arising from genetic and epigenetic disturbances; (2) have insight into clinical and laboratory processes required to diagnose genetic and epigenetic human disorders; (3) appreciate the range of pathogenic mechanisms contributing to the clinical manifestations of genetic diseases; (4) demonstrate skills in the clinical and laboratory assessment of small and large scale genomic variants; and (5) understand the range of therapeutic and preventative interventions available for constitutional and acquired genetic/epigenetic human diseases.

Assessment

Indicative assessments in this unit are as follows: (1) case reports; (2) mid-semester test; and (3) examination. Further information is available in the unit outline.



Student may be offered supplementary assessment in this unit if they meet the eligibility criteria.

Unit Coordinator(s)
Dr Clayton Fragall
Unit rules
Prerequisites
Successful completion of
PATH2210 Fundamentals of Pathology and Laboratory Medicine
and PATH2211 Molecular Medicine
and PATH2220 Introduction to Human Disease
and MICR2209 Introduction to Infectious Diseases and Immunology
or
GENE2230 Molecular Genetics I
and GENE2250 Principles of Inheritance
or
PATH2221 Principles of Human Disease
and PATH2222 Pathology of Body Systems
Incompatibility
GENE3320 Medical Genetics
Contact hours
lectures: 3 hrs per week
practical labs or tutorials: 3 hrs per week
  • The availability of units in Semester 1, 2, etc. was correct at the time of publication but may be subject to change.
  • All students are responsible for identifying when they need assistance to improve their academic learning, research, English language and numeracy skills; seeking out the services and resources available to help them; and applying what they learn. Students are encouraged to register for free online support through GETSmart; to help themselves to the extensive range of resources on UWA's STUDYSmarter website; and to participate in WRITESmart and (ma+hs)Smart drop-ins and workshops.
  • Visit the Essential Textbooks website to see if any textbooks are required for this Unit. The website is updated regularly so content may change. Students are recommended to purchase Essential Textbooks, but a limited number of copies of all Essential Textbooks are held in the Library in print, and as an ebook where possible. Recommended readings for the unit can be accessed in Unit Readings directly through the Learning Management System (LMS).
  • Contact hours provide an indication of the type and extent of in-class activities this unit may contain. The total amount of student work (including contact hours, assessment time, and self-study) will approximate 150 hours per 6 credit points.