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The current and official versions of the course specifications are available on the web at https://www.usq.edu.au/course/specification/current.
Please consult the web for updates that may occur during the year.

BIO2104 Molecular Diagnostics 1

Semester 1, 2021 On-campus Toowoomba
Short Description: Molecular Diagnostics 1
Units : 1
Faculty or Section : Faculty of Health, Engineering and Sciences
School or Department : School of Health and Wellbeing
Student contribution band : Band 2
ASCED code : 060113 - Pathology
Grading basis : Graded
Version produced : 14 April 2021

Staffing

Examiner: Edward Bliss

Requisites

Pre-requisite: BIO1103 and BIO1203 and BIO1204

Other requisites

Students should be enrolled in the Bachelor of Medical Laboratory Science, Bachelor of Biomedical Sciences, Bachelor of Science (Human Physiology), or Associate Degree of Medical Laboratory Science.

Rationale

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.

Synopsis

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.

Objectives

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

ALL textbooks and materials available to be purchased can be sourced from USQ's Online Bookshop (unless otherwise stated). (https://omnia.usq.edu.au/textbooks/?year=2021&sem=01&subject1=BIO2104)

Please contact us for alternative purchase options from USQ Bookshop. (https://omnia.usq.edu.au/info/contact/)

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

Reference materials

Reference materials are materials that, if accessed by students, may improve their knowledge and understanding of the material in the course and enrich their learning experience.
Behrend, C., Hagh, J.K., Mehdipour, P. and Schwanitz, G 2017, Human Chromosome Atlas: Introduction to diagnostics of structural aberrations, Springer.
Kumar V, Abbas A & Aster J 2017, Robbins Basic Pathology, 10th edn, Saunders/Elseiver, Philadelphia.
Pyeritz, R.E., Korf, B.R. and Grody, W.W. eds 2018, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Foundations, 7th edn, Academic Press.
Rifai, N., Horvath, A.R and Wittwer, C.T eds 2018, Tietz Textbook of Clinical Chemistry and Molecular Diagonostics, 6th edn, Elsevier, St Louis.

Student workload expectations

Activity Hours
Assessments 30.00
Online Lectures 26.00
Private Study 80.00
Residential Schools 16.00
Tutorials 13.00

Assessment details

Description Marks out of Wtg (%) Due Date Notes
Laboratory Report 20 20 27 Apr 2021 (see note 1)
Problem Based Question&Case St 20 20 21 May 2021 (see note 2)
Forum Participation 10 10 06 Jun 2021 (see note 3)
Open Exam - Online 50 50 End S1 (see note 4)

Notes
  1. Examiner will provide assignment details.
  2. Problem based questions and case studies - Examiner will provide assignment details.
  3. Forum Participation (Tutorial Research Activities) - Examiner will provide assignment details.
  4. This will be an online exam. Students will be provided further instruction regarding the exam by their course examiner via StudyDesk. The examination date will be available via UConnect when the Alternate Assessment Schedule has been released.

Important assessment information

  1. Attendance requirements:
    Both external and on-campus students must attend the mandatory residential school. It is the students' responsibility to attend and participate appropriately in all activities (such as lectures and tutorials) scheduled for them, and to study all material provided to them or required to be accessed by them to maximise their chance of meeting the objectives of the course and to be informed of course-related activities and administration. Student (external and on-campus) attendance at the residential school is mandatory (non-attendance will mean the student cannot pass the course). The residential school delivers the practical component for the semester, students must attend and actively participate in the residential school and maintain a satisfactory record of practical activities and results.
    Students must attend and complete the requirements of the Workplace Health and Safety training program for this course where required.
    This course contains a mandatory two-day residential school for both external and on-campus students.

  2. Requirements for students to complete each assessment item satisfactorily:
    Due to COVID-19 the requirements for S1 2021 are:
    To satisfactorily complete the laboratory report, case studies and forum participation (tutorial research activities) assignments a student must achieve at least 50% of the weighted mark. To satisfactorily complete all other assessment items students must achieve at least 50% of the marks for that item.

    Requirements after S1 2021:
    To satisfactorily complete the laboratory report, case studies and forum participation (tutorial research activities) assignments a student must achieve at least 50% of the weighted mark. To satisfactorily complete the exam a student must achieve at least 40% of the weighted mark.

  3. Penalties for late submission of required work:
    Students should refer to the Assessment Procedure http://policy.usq.edu.au/documents.php?id=14749PL (point 4.2.4)

  4. Requirements for student to be awarded a passing grade in the course:
    Due to COVID-19 the requirements for S1 2021 are:
    To be assured of receiving a passing grade a student must achieve at least 50% of the total weighted marks available for the course.

    Requirements after S1 2021:
    To be assured of receiving a passing grade a student must obtain at least 50% of the total weighted marks available for the course (i.e. the Primary Hurdle), and have satisfied the Secondary Hurdle (Supervised) (i.e. the end of semester examination by achieving at least 40% of the total marks (Part A + Part B) available for that assessment item), and must have satisfied the Secondary Hurdle (Proficiency) (i.e. the laboratory report by achieving at least 50% of the marks available for that assessment item).
    Supplementary assessment may be offered where a student has undertaken all of the required summative assessment items and has passed the Primary Hurdle but failed to satisfy the Secondary Hurdle (Supervised), or has satisfied the Secondary Hurdle (Supervised) but failed to achieve a passing Final Grade by 5% or less of the total weighted Marks.
    To be awarded a passing grade for a supplementary assessment item (if applicable), a student must achieve at least 50% of the available marks for the supplementary assessment item as per the Assessment Procedure http://policy.usq.edu.au/documents/14749PL (point 4.4.2).

  5. Method used to combine assessment results to attain final grade:
    The final grades for students will be assigned on the basis of the weighted aggregate of the marks obtained for each of the summative assessment items in the course.

  6. Examination information:
    Due to COVID-19 the requirements for S1 2021 are:
    An Open Examination is one in which candidates may have access to any printed or written material and a calculator during the examination.

    Requirements after S1 2021:
    CLOSED: Candidates are allowed to bring only writing and drawing instruments into a closed examination.

  7. Examination period when Deferred/Supplementary examinations will be held:
    Normally Deferred and Supplementary Examinations are held in the next Examination period. In S1 2021 selected courses will pilot an early Deferred and Supplementary Examination period held within 30 business days of results release. The list of courses involved can be found at https://cmsauth.usq.edu.au/current-students/academic/exams/supplementary-and-deferred-assessment.

  8. University Student Policies:
    Students should read the USQ policies: Definitions, Assessment and Student Academic Misconduct to avoid actions which might contravene University policies and practices. These policies can be found at http://policy.usq.edu.au.

Assessment notes

  1. Students must familiarise themselves with the USQ Assessment Procedures (http://policy.usq.edu.au/documents.php?id=14749PL).

  2. Referencing in assignments must comply with the Harvard (AGPS) referencing system. This system should be used by students to format details of the information sources they have cited in their work. The Harvard (APGS) style to be used is defined by the USQ library’s referencing guide. This guide can be found at http://www.usq.edu.au/library/referencing.

  3. As part of the mandatory residential school students may be expected to complete a combination of laboratories, practical classes and assessment as advised by the course examiner.

Evaluation and benchmarking

In meeting the University’s aims to establish quality learning and teaching for all programs, this course monitors and ensures quality assurance and improvements in at least two ways. This course:

  1. Conforms to the USQ Policy on Evaluation of Teaching, Courses and Programs to ensure ongoing monitoring and systematic improvement.
  2. Forms part of the Bachelor of Medical Laboratory Science and is benchmarked against the [choose one or all of the following]:
• internal USQ accreditation/reaccreditation processes which include (i) stringent standards in the independent accreditation of its academic programs, (ii) close integration between business and academic planning, and (iii) regular and rigorous review.
• professional accreditation standards of the Australian Institute of Medical Scientists (AIMS).
• comparative activities and performance of the Bachelor of Medical Laboratory Science at the Queensland University of Technology.

Other requirements

  1. Computer, e-mail and Internet access:
    Students are required to have access to a personal computer, e-mail capabilities and Internet access to UConnect. Current details of computer requirements can be found at http://www.usq.edu.au/current-students/support/computing/hardware .

  2. Students must be willing to undertake and submit the requirements of the University of Southern Queensland and Queensland Health for clinical placement. These include: evidence of Hepatitis B immunity.

  3. The residential school delivers the practical component for the course, students must attend and actively participate in all sessions of the residential school and maintain a satisfactory record of the practical activities undertaken.

Date printed 14 April 2021