Course specification for BIO2104

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BIO2104 Molecular Diagnostics 1

Semester 1, 2020 External
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

Staffing

Examiner:

Requisites

Pre-requisite: BIO1104 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 (unless otherwise stated). (https://omnia.usq.edu.au/textbooks/?year=2020&sem=01&subject1=BIO2104)

Please 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.
Kumar V, AK Abbas & N Fausto 2015, Robbins and Cotran Pathologic Basis of Disease, 9th edn, Elsevier Saunders.
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, Academic Press.

Student workload expectations

Activity Hours
Assessments 30.00
Online Lectures 26.00
Online Tutorials 13.00
Private ¾«¶«´«Ã½app 80.00
Residential Schools 16.00

Assessment details

Description Marks out of Wtg (%) Due Date Objectives Assessed Notes
Laboratory report 20 20 28 Apr 2020 2,3,4,5,6 (see note 1)
Problem based questions&case 20 20 26 May 2020 1,3,4,6 (see note 2)
Online Exam 60 60 End S1 1,3,4 (see note 3)

Notes
  1. Examiner will provide assignment details.
  2. Examiner will provide assignment details.
  3. This will be an open examination. Students will be provided further instruction regarding the exam by their course examiner via ¾«¶«´«Ã½appDesk. The examination date will be available via Uconnect when the official examination timetable has been released. l examination timetable 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 2020 are: To satisfactorily complete an individual assessment item a student must achieve at least 50% of the marks for that item.

    Requirements after S1 2020:
    To satisfactorily complete the laboratory report and case studies 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 (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 2020 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 2020:
    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 (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 2020 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 2020:
    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:
    Due to COVID-19 the requirements for S1 2020 are: The details regarding deferred/supplementary examinations will be communicated at a later date

    Requirements after S1 2020:
    Any Deferred or Supplementary examinations for this course will be held during the next examination period.

  8. ¾«¶«´«Ã½app Student Policies:
    Students should read the USQ policies: Definitions, Assessment and Student Academic Misconduct to avoid actions which might contravene ¾«¶«´«Ã½app policies and practices. These policies can be found at .

Assessment notes

  1. Students must familiarise themselves with the USQ Assessment Procedures (.

  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 .

  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 ¾«¶«´«Ã½app’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:
• conforms to the USQ Policy on Evaluation of Teaching, Courses and Programs to ensure ongoing monitoring and systematic improvement.
• 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 ¾«¶«´«Ã½app 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 .

  2. Students must be willing to undertake and submit the requirements of the ¾«¶«´«Ã½app 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 19 June 2020