| Credit |
12 points |
| Availability |
Semester 2 |
| Old unit code |
970.320 |
| Outcomes |
Students achieve (1) an understanding of the basic principles of chromosome structure and function, Mendelian patterns of inheritance and population genetics; (2) an understanding of the role of genetic factors in the causation of disease; (3) an understanding at the molecular genetics level of diagnosis, prognosis, prevention of disease and the application to clinical medicine; (4) an understanding of the impact of the emerging ethical considerations regarding the conduct of various aspects of medical genetics; (5) practical skills through practical sessions which are designed to expose the student to a wide range of techniques used to monitor and detect genetic disorders in patients; (6) skills in the synthesis, critique and oral presentation of selected topics and scientific literature; and (7) skills in the synthesis, critique and written presentation of selected topics. |
| Content |
This unit provides students with the basic principles of the role of genetic factors in the causation of human disease. The emphasis is on molecular genetics, especially in the areas of diagnosis, prognosis, prevention of disease and their application to clinical medicine. The intent of the unit is to cover basic principles of chromosome structure and function, Mendelian patterns of inheritance and population genetics, single gene disorders, multifactorial diseases, chromosomal and somatic cell genetic disorders, mitochondrial diseases, pre-natal diagnosis and in-vitro fertilisation technology disorders. Practical skills focus on screening methods for genetic abnormalities, assessment of risk status and coverage of the basics of clinical cytogenetics, pharmacogenetics and those aspects of immunogenetics that relate to tissue transplantation programs. The impact of emerging ethical considerations regarding the conduct of various aspects of medical genetics is also presented. |
| Assessment |
This comprises seminars, practical reports and two written examinations, one of which is two hours and the other three hours.
Supplementary assessment is not available in this unit except in the case of a bachelor's pass degree student who has obtained a mark of 45 to 49 and is currently enrolled in this unit, and it is the only remaining unit that the student must pass in order to complete their course. |
| Unit Co-ordinator(s) |
Professor Frank van Bockxmeer and Associate Professor Richard Allcock (deputy) |
| Location |
UWA (Crawley) |
| Mode |
on-campus |
| Unit Rules |
| Prerequisites: GENE2230 Molecular Genetics |
| Advisable prior study: GENE3330 Molecular Genetics and Genomics |
Contact hours—lectures/tutorials: up to 4 hrs per week; labs: 6 hrs per week
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| Unit Outline | http://webct.uwa.edu.au/webct/logon/383732439011 |
| Texts | |
Book lists are available from the University Co-operative Bookshop and the School of Pathology and Laboratory Medicine. |
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- The availability of units in Semester 1, 2, etc. was correct at the time of going to press but may be subject to change.
- Assistance with study skills, including English language skills, is available free of charge from Student Services for all enrolled students (see http://www.studentservices.uwa.edu.au/ss/learning). Student Services location: Second Floor, South Wing, Guild Village; telephone: 6488 2423.
- Books and other materials wherever listed may be subject to change. Book lists relating to 'Preliminary Reading', 'Recommended Reading' and 'Textbooks' are, in most cases, available at the University Co-operative Bookshop (from early January) and appropriate administrative offices for students to consult. For first-year units the Bookshop will endeavour to make available photocopies of book lists for individual units. Books marked with an asterisk (*) are available in paperback.
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