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BIO2104 Molecular Diagnostics 1

Semester 1, 2023 Toowoomba On-campus
Units : 1
School or Department : School of Health and Medical Sciences
Grading basis : Graded
Course fee schedule : /current-students/administration/fees/fee-schedules

Staffing

Course Coordinator:

Requisites

Pre-requisite: BIO1103 and BIO1203 and BIO1204

Overview

Molecular Diagnostics is a highly specialised and rapidly growing discipline in Medical Laboratory Science. Molecular Diagnostics 1 will enable students to extend their foundational knowledge of chromosomal structure and function, cellular processes and human physiology and apply it to a study of human disease at the molecular level. This course will provide students with the foundational theoretical knowledge that underpins a range of molecular diagnostic techniques supplemented with case studies that illustrate their application in medical diagnostics. This course will prepare students for further studies in this discipline in third year.

This course will explore the following four major themes: human cell biology and medical genetics; cytogenetic principles, nomenclature and molecular cytogenetics; chromosomal analysis in disease; and prenatal cytogenetics and fertility testing. Tutorials will extend the student's knowledge by providing problem-solving tasks, case study investigations and journal article discussions. This course contains a mandatory two-day residential school for both external and on-campus students. This residential school will provide students with the opportunity to apply their theoretical knowledge to practical cytogenetic testing and extended investigation of case studies in specific human diseases that are characterised by known genetic aberrations.

As part of the 精东传媒app's accreditation agreement with the Australian Institute of Medical and Clinical Scientists (AIMS), students are required to attempt and submit all assessment items in this course. Students are also required to attend the mandatory residential school and obtain at least 50% of the marks allocated to the practical/laboratory skills assessment in this course. Non-attendance at the residential school will mean that students cannot pass the course.

Course learning outcomes

On completion of this course students should be able to:

  1. describe the key processes associated with the cell cycle and division, chromosomal structure and function and fundamental medical genetic concepts;
  2. explain fundamental cytogenetic principles, nomenclature, and the basic concepts that underpin cytogenetic testing in the diagnosis and screening of human disease;
  3. follow standard procedures within the laboratory environment to develop fundamental skills in basic cytogenetic diagnostic techniques;
  4. explain the theoretical concepts associated with common chromosomal aberrations and how these can result in human diseases, and the mechanisms involved in disease progression;
  5. apply safe laboratory practices and professional and ethical standards associated with working in a clinical genetics laboratory;
  6. communicate and work effectively both independently and in a team environment.

Topics

Description Weighting(%)
1. Human cell biology and medical genetics 30.00
2. Cytogenetic principles, nomenclature and introductory molecular cytogenetics 20.00
3. Chromosomal analysis in human disease 25.00
4. Prenatal cytogenetics and seminal analyses 15.00
5. Laboratory skills and practice 10.00

Text and materials required to be purchased or accessed

Zneimer, S.M 2014, Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result, John Wiley & Sons.

Student workload expectations

To do well in this subject, students are expected to commit approximately 10 hours per week including class contact hours, independent study, and all assessment tasks. If you are undertaking additional activities, which may include placements and residential schools, the weekly workload hours may vary.

Assessment details

Approach Type Description Group
Assessment
Weighting (%) Course learning outcomes
Assignments Written Quiz A1 of 3 No 15 1
Assignments Practical Practical No 20 1,3,4,5,6
Assignments Written Quiz A2 of 3 No 10 2
Assignments Written Problem Solving No 30 1,2,4,6
Assignments Written Quiz A3 of 3 No 25 1,2,4
Date printed 9 February 2024