Human Molecular Genetics in Health & Disease (BIOC3003)

Course overview

BIOC3003 is an advanced research-informed course on the molecular genetics of human disease. The diverse topics include: single gene disorders, multifactorial disorders; cancer genetics; developmental genetics and birth defects; epigenetics; mobile genetic elements; and the identification and analysis of human disease genes. The course content will provide students with a contemporary overview of human genetic disorders, genetic variation and on how mutations are identified and assessed for their contribution to phenotype. In addition, you will delve into some aspects of clinical management of genetic diseases, from and information on the genetic tools used for their diagnosis, prognosis and treatment through to the ethical implications of genetic testing. In the age of personalised genomic medicine and high-throughput “omics” approaches, obtaining a solid foundation in genetic principles at the molecular level has never been more important for understanding and, ultimately preventing, human disease.

Hospital admissions, apart from childbirth, infections, and trauma injuries, are often the result of genetic disease. In addition, an individual's predisposition to diseases and their response to infection and wound healing have ﾠa strong genetic component. The diagnosis and treatment of genetic diseases require ﾠa thorough understanding of molecular genetics and molecular biology.ﾠThis course consists of seven modules ﾠthat will cover the most significant areas of modern molecular genetics.

Developmental Genetics (Lecturer: A/Prof. Marloes Dekker):ﾠ the nature and impact of disease-causing mutations in genes that regulate the development of the human embryo.

Single-gene Diseases ﾠ(Lecturer: DrﾠJocelyn Widagdo):ﾠ Mendelian inheritance and causative mutations (e.g. the genetic basis of ﾠrecessive and dominant disorders).

Ethics in Genetics (Lecturer: Prof. Kim Summers): the ethical implications of genetic testing.

Complex Genetic Disorders (Lecturer: A/Prof Marina Fortes): the complex interaction between genetic variation and environmental factors that underlie complex genetic diseases.

Epigenetics (Lecturer: Dr Jazmina Gonzales Cruz): the role of epigenetic mechanisms in human disease (e.g. Imprinting).

Cancer Genomics (Lecturer: Dr Mitchell Stark): the role of personalized genomics in the diagnosis, prognosis and treatment of cancers.

Transposable elements (Lecturer: Dr Sandra Richardson): the role of mobile DNA in shaping our genome and contributing to disease and reproductive disorders

Each module ﾠconsists of up to 5 hours of lecture content. The course is also supported by workshops and regular feedback sessions to enable development of problem-solving and analysis skills in human molecular genetics using real-world data and examples.

Course requirements

Assumed background

Before beginning this course you should know the basics of eukaryotic gene structure, function and regulation.ﾠ You should also have a good understanding of the molecular and cellular concepts that pertain to the functions of DNA, RNA, proteins and other macromolecules.

Prerequisites

You'll need to complete the following courses before enrolling in this one:

[BIOL2202 or BIOL2902]

Course contact

Course staff

Timetable

The timetable for this course is available on the UQ Public Timetable.

Additional timetable information

The course timetable is available on public timetable; a detailed timetable showing individual learning activities will be available on the BIOC3003 Blackboard site.

Check your online timetable regularly.

Aims and outcomes

The aim of this course is to provide an understanding of the genetic basis of human disease.ﾠ This course will provide students with the knowledge-base needed to appreciate how genetic alterations impact on human phenotypes, in health and disease. Some genetic alterations have impact because theyﾠ change the ﾠprotein coded, while others change gene expression or impact on a range of genomic functional features. The course will also provide an appreciation of the current research literature in this area. Students will interact with academic staff that are research leaders in their fields.

Learning outcomes

After successfully completing this course you should be able to:

Assessment

Assessment summary

A hurdle is an assessment requirement that must be satisfied in order to receive a specific grade for the course. Check the assessment details for more information about hurdle requirements.

Assessment details

Workshop exercises

• Hurdle
• Online

Mode

Written

Category

Tutorial/ Problem Set

Weight

20%

Due date

Workshop 1 18/03/2025 2:00 pm

Workshop 2 8/04/2025 2:00 pm

Workshop 3 29/04/2025 2:00 pm

Workshop 4 13/05/2025 2:00 pm

Other conditions

Student specific, Time limited.

See the conditions definitions

Task description

Hurdle requirements

Submission guidelines

Submission will be series of timed online quizzes.

Deferral or extension

You may be able to apply for an extension.

Applications for Extensions

Information on applying for an extension can be found here: my.UQ Applying for an extension.

Extension applications must be received by the assessment due date and time.

If you are unable to provide approved documentation to support your application by the due date and time, you must still submit your application by the deadline but with an attached Word document that outlines why you cannot provide the approved documentation by the deadline. You will then need to acquire and upload the approved documentation to your request within 24 hours. Please note: When an extension request has been submitted and is pending, students are expected to continue to work on the assessment item, with the aim of submitting by the requested due date and time.

Prolonged Absence

If you have been ill or unable to attend class for more than 14 days, we advise you to carefully consider whether you are capable of successfully completing your courses this semester.

Extensions with Student Access Plans (SAP)

For extensions up to 7 days, your SAP is all that is required as documentation to support your application. However, extension requests longer than 7 days (for any one assessment item) will require the submission of additional supporting documentation e.g. a medical certificate.

Late submission

Exams submitted after the end of the submission time will incur a late penalty.

You are required to submit assessable items on time. If you fail to meet the submission deadline for any assessment item, then 10% of the maximum possible mark for the assessment item (assessment ‘marked from’ value) will be deducted as a late penalty for every day (or part day) late after the due date. For example, if you submit your assignment 1 hour late, you will be penalised 10%; if your assignment is 24.5 hours late, you will be penalised 20% (because it is late by one 24-hour period plus part of another 24-hour period). 10% will be deducted per day for up to 7 calendar days, at which point your submission will receive a mark of zero (0) unless an extension has been approved.

In most instances one or more hurdles will apply to your assessment item so you will need to submit it to fulfil the requirements of the course regardless of how late it is and the mark you are likely to be awarded.

Project report

• Hurdle

Mode

Written

Category

Paper/ Report/ Annotation

Weight

20%

Due date

27/05/2025 2:00 pm

Task description

Hurdle requirements

Submission guidelines

Submit through the course Turnitin submission point in Blackboard. Before submitting your assessment item to Turnitin please name your file in the following way. FAMILY NAME_GivenName_StudentID_CourseCode_AssignmentName For example: Bob Smith (ID: 54329876) would name his ABCD1234 essay 1 in the following way. SMITH_Bob_54329876_ABCD1234_Essay1

Deferral or extension

You may be able to apply for an extension.

Applications for Extensions

Information on applying for an extension can be found here: my.UQ Applying for an extension.

Extension applications must be received by the assessment due date and time.

If you are unable to provide approved documentation to support your application by the due date and time, you must still submit your application by the deadline but with an attached Word document that outlines why you cannot provide the approved documentation by the deadline. You will then need to acquire and upload the approved documentation to your request within 24 hours. Please note: When an extension request has been submitted and is pending, students are expected to continue to work on the assessment item, with the aim of submitting by the requested due date and time.

Prolonged Absence

If you have been ill or unable to attend class for more than 14 days, we advise you to carefully consider whether you are capable of successfully completing your courses this semester.

Extensions with Student Access Plans (SAP)

For extensions up to 7 days, your SAP is all that is required as documentation to support your application. However, extension requests longer than 7 days (for any one assessment item) will require the submission of additional supporting documentation e.g. a medical certificate.

Late submission

A penalty of 10% of the maximum possible mark will be deducted per 24 hours from time submission is due for up to 7 days. After 7 days, you will receive a mark of 0.

You are required to submit assessable items on time. If you fail to meet the submission deadline for any assessment item, then 10% of the maximum possible mark for the assessment item (assessment ‘marked from’ value) will be deducted as a late penalty for every day (or part day) late after the due date. For example, if you submit your assignment 1 hour late, you will be penalised 10%; if your assignment is 24.5 hours late, you will be penalised 20% (because it is late by one 24-hour period plus part of another 24-hour period). 10% will be deducted per day for up to 7 calendar days, at which point your submission will receive a mark of zero (0) unless an extension has been approved.

In most instances one or more hurdles will apply to your assessment item so you will need to submit it to fulfil the requirements of the course regardless of how late it is and the mark you are likely to be awarded.

In-semester Examination

• Hurdle
• Identity Verified
• In-person

Mode

Written

Category

Examination

Weight

20%

Due date

In-semester Saturday

29/03/2025 - 12/04/2025

Task description

Hurdle requirements

Exam details

Submission guidelines

Deferral or extension

You may be able to defer this exam.

End of Semester Exam

• Hurdle
• Identity Verified
• In-person

Mode

Written

Category

Examination

Weight

40%

Due date

End of Semester Exam Period

7/06/2025 - 21/06/2025

Task description

Hurdle requirements

Exam details

Submission guidelines

Deferral or extension

You may be able to defer this exam.

Course grading

Full criteria for each grade is available in the Assessment Procedure.

Additional course grading information

Assessment Hurdles

In order to pass this course, you must meet ALL of the following requirements (if you do not meet these requirements, the maximum grade you will receive will be a 3):

1. You must obtain an overall course mark of 50% or more; and
2. You must obtain a weighted average mark of 40% or more across the two examination components; and
3. You must obtain a minimum weighted average mark of 40% across all other non-examination course assessment items.

Supplementary assessment

Supplementary assessment is available for this course.

Should you fail a course with a grade of 3, you may be eligible for supplementary assessment. Refer to my.UQ for information on supplementary assessment and how to apply. 

Supplementary assessment provides an additional opportunity to demonstrate you have achieved all the required learning outcomes for a course.  

If you apply and are granted supplementary assessment, the type of supplementary assessment set will consider which learning outcome(s) have not been met.  

Supplementary assessment can take any form (such as a written report, oral presentation, examination or other appropriate assessment) and may test specific learning outcomes tailored to the individual student, or all learning outcomes. 

To receive a passing grade of 3S4, you must obtain a mark of 50% or more on the supplementary assessment. 

Additional assessment information

Assessment Submission

It is the responsibility of the student to ensure the on time, correct and complete submission of all assessment items.

Students are responsible for retaining evidence of submission by the due date for all assessment items, in the required form (for example, screenshot, email, photo, and an unaltered copy of submitted work).

In the case of a Blackboard outage, contact the Course Coordinator as soon as possible to confirm the outage with ITS.

Assessment/Attendance

Notify your Course Coordinator as soon as you become aware of any issue that may affect your ability to meet the assessment/attendance requirements of the course. The my.UQ website and the Course Profile (CP) for your course provide information about your course requirements, the rules associated with your courses and services offered by the University.

A note for repeating students in this course

Only learning activities and/or assessment items completed during the study period of enrolment, including any approved extensions, may contribute to your grade in this course. The whole or partial use of assessment items previously submitted for the same course, for a course at any institution, or for published material, is not permitted without written permission of the Course Coordinator.

Important Note

Turnitin is to be used for assignments/laboratory reports to check for plagiarism. Penalties can be severe for plagiarism.

The University has adopted the following definition of plagiarism: Plagiarism is the act of misrepresenting as one's own original work the ideas, interpretations, words or creative works of another either intentionally or unintentionally. These include published and unpublished documents, designs, music, sounds, images, photographs, computer codes and ideas gained through working in a group. These ideas, interpretations, words or works may be found in print and/or electronic media.

Students should read the UQ Student Integrity and Misconduct Policy.

Learning resources

You'll need the following resources to successfully complete the course. We've indicated below if you need a personal copy of the reading materials or your own item.

Library resources

Library resources are available on the UQ Library website.

Additional learning resources information

Blackboard

Lecture notes, prac manual, key references and resources for workshops and practicals will be available on Blackboard.

Please check the Announcements page on Blackboard regularly for updates.

Ed Discussion will be available on Blackboard for specific questions about course content and assessment.

Learning activities

The learning activities for this course are outlined below. Learn more about the learning outcomes that apply to this course.

Policies and procedures

University policies and procedures apply to all aspects of student life. As a UQ student, you must comply with University-wide and program-specific requirements, including the:

• Student Code of Conduct Policy
• Student Integrity and Misconduct Policy and Procedure
• Assessment Procedure
• Examinations Procedure
• Reasonable Adjustments - Students Policy and Procedure

Learn more about UQ policies on my.UQ and the Policy and Procedure Library.