Information on this page, including unit offerings, is from the 2020 academic year.
Diagnostic Genomics (BMS327)
|Organisational Unit||Medical, Molecular and Forensic Sciences|
|Availability||MURDOCH: S1-internal (quota of 30 places)|
|Teaching Timetables||Murdoch S1
|Description||Diagnostic genomics is a rapidly emerging discipline within clinical pathology focused on determining the genetic basis of phenotypes and disease diagnosis through examination of patient genomes and their products. This includes prenatal genetic testing, genetic disease diagnosis and screening, pharmacogenetic assessment, cancer diagnosis and prognostication. Current platforms and tools used in molecular diagnostic laboratories to identify genetic mutations and gene variants including next generation DNA sequencing will be covered in this unit, with a focus on interpretation and reporting.|
|Unit Learning Outcomes||On completion of this unit, students will be able to demonstrate the following learning outcomes and skills: 1. Knowledge: The student will demonstrate an understanding of the principles and applications involved in identifying a range of genetic states and disorders, utilising a range of different diagnostic techniques. 2. Communication: Students will be able to report constitutional, somatic, healthy and pathological genetic variants using standardised nomenclature. The student will need to demonstrate an ability to generate, understand, compile and report genetic pathology information. 3. Problem solving skills: The student will demonstrate an ability to integrate multiple sources of genetic investigations with patient histories to formulate diagnoses and treatment strategies. 4. Social responsibility: Students will learn fundamental ethical considerations required when dealing with highly sensitive patient genetic information.|
|Timetabled Learning Activities||Lectures: 3 x 1 hour lectures per week.
Laboratories: 3 hours per week.
|Unit Learning Experiences||Students will be able to build on the theoretical knowledge presented in lectures through both 'wet' and 'dry' laboratory practical sessions. Students will examine and interpret Next Generation Sequence and other data related to specific disease types. These learning experiences will be reinforced with written and oral assessments based on topics related to heritable and somatically derived disease. Additional learning material and exercises will be provided though the BMS327 online unit (Moodle) page, that students will be able to complete at their own pace.|
|Assessment||Assessment will comprise of laboratory/computer laboratory-based reports, a mid-semester examination, group oral presentation of a case report/journal article and an end of year examination.|
|Prerequisites||BIO282 Molecular Biology|
|Quota||This unit is subject to quota. Due to limited laboratory space and equipment. Preference will be given to students enrolled in Laboratory Medicine (BSc/BLabMed) or Clinical Laboratory Science (BSc)|
|Appears in these Courses/Majors:
see individual structures for context
|Internet Access Requirements||Murdoch units normally include an online component comprising materials, discussions, lecture recordings and assessment activities. All students, regardless of their location or mode of study, need to have access to and be able to use computing devices with browsing capability and a connection to the Internet via Broadband (Cable, ADSL or Mobile) or Wireless. The Internet connection should be readily available and allow large amounts of data to be streamed or downloaded (approximately 100MB per lecture recording). Students also need to be able to enter into online discussions and submit assignments online.|
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