This subject introduces the basic concepts behind DNA structure, replication and gene expression, with an emphasis on human disease. Mechanisms of mutation and DNA repair will be examined and their consequences discussed. Case studies for specific genetic diseases will be employed to demonstrate single gene defects, complex multi-factorial diseases and chromosomal disorders. Clinical commentary on important disorders, including cystic fibrosis, achondroplasia, Fragile X, trisomy 21, etc. will be provided throughout the lecture series. More specialised topics including inborn errors of metabolism, mitochondrial disorders and the genetic basis of cancer and ageing will also be presented. Finally recent molecular advances in gene therapy and the Human Genome Project will be examined in relation to ethical, legal and social issues relevant to medical genetics. Students will also acquire standard laboratory techniques used in DNA diagnostic tests.
|Academic unit:||Faculty of Health Sciences and Medicine|
|Subject title:||Medical and Molecular Genetics|
Delivery & attendance
|Attendance and learning activities:||Attend all activities. Most sessions build on the work on the previous one. It is difficult to recover if you miss a learning activit. Attendance in tutorials and labs will be monitored, and non-attendance will impact the associated assessment items.|
|Prescribed resources:|| |
|[email protected] & Email:||[email protected] is the online learning environment at Bond University and is used to provide access to subject materials, lecture recordings and detailed subject information regarding the subject curriculum, assessment and timing. Both iLearn and the Student Email facility are used to provide important subject notifications. Additionally, official correspondence from the University will be forwarded to students’ Bond email account and must be monitored by the student.|
To access these services, log on to the Student Portal from the Bond University website as www.bond.edu.au
This subject is not available as a general elective. To be eligible for enrolment, the subject must be specified in the students’ program structure.
Assurance of learning
Assurance of Learning means that universities take responsibility for creating, monitoring and updating curriculum, teaching and assessment so that students graduate with the knowledge, skills and attributes they need for employability and/or further study.
At Bond University, we carefully develop subject and program outcomes to ensure that student learning in each subject contributes to the whole student experience. Students are encouraged to carefully read and consider subject and program outcomes as combined elements.
Program Learning Outcomes (PLOs)
Program Learning Outcomes provide a broad and measurable set of standards that incorporate a range of knowledge and skills that will be achieved on completion of the program. If you are undertaking this subject as part of a degree program, you should refer to the relevant degree program outcomes and graduate attributes as they relate to this subject.
Subject Learning Outcomes (SLOs)
On successful completion of this subject the learner will be able to:
- Describe the mechanisms relating to storage, replication and expression of genetic material.
- Explain the relationship between chromosomal, single- and multifactorial-gene mutations and human disease.
- Provide a comprehensive overview of mechanisms of DNA mutation and repair.
- Describe methods of identifying human disease genes and treatment of genetic disorders.
- Develop laboratory and analytical skills in the area of molecular genetics.
- Discuss and debate the ethical, legal and social issues relevant to medical genetics.
- Work competently in a group and share information in tutorials.
- Develop a high level of communication skills, both written and orally.
|Problem-based Learning||PBL Participation||10%||Ongoing||1, 2, 3, 4, 5, 6, 7.|
|*Debate §||Debate Club (Ethics & Genetics)||20%||Ongoing||6, 8.|
|Laboratory Report||Lab Reports 1||5%||Week 7||1, 2, 3, 4, 5, 7, 8.|
|Laboratory Report||Lab Reports 2||5%||Week 12||1, 2, 3, 4, 5, 7, 8.|
|Paper-based Examination (Closed)||End of Semester Exam||40%||Final Examination Period||1, 2, 3, 4, 5.|
|Paper-based Examination (Closed)||Mid-Semester Exam||20%||Week 6 (Mid-Semester Examination Period)||1, 2, 3, 4, 5.|
- § Indicates group/teamwork-based assessment
- * Assessment timing is indicative of the week that the assessment is due or begins (where conducted over multiple weeks), and is based on the standard University academic calendar
- C = Students must reach a level of competency to successfully complete this assessment.
|High Distinction||85-100||Outstanding or exemplary performance in the following areas: interpretative ability; intellectual initiative in response to questions; mastery of the skills required by the subject, general levels of knowledge and analytic ability or clear thinking.|
|Distinction||75-84||Usually awarded to students whose performance goes well beyond the minimum requirements set for tasks required in assessment, and who perform well in most of the above areas.|
|Credit||65-74||Usually awarded to students whose performance is considered to go beyond the minimum requirements for work set for assessment. Assessable work is typically characterised by a strong performance in some of the capacities listed above.|
|Pass||50-64||Usually awarded to students whose performance meets the requirements set for work provided for assessment.|
|Fail||0-49||Usually awarded to students whose performance is not considered to meet the minimum requirements set for particular tasks. The fail grade may be a result of insufficient preparation, of inattention to assignment guidelines or lack of academic ability. A frequent cause of failure is lack of attention to subject or assignment guidelines.|
For the purposes of quality assurance, Bond University conducts an evaluation process to measure and document student assessment as evidence of the extent to which program and subject learning outcomes are achieved. Some examples of student work will be retained for potential research and quality auditing purposes only. Any student work used will be treated confidentially and no student grades will be affected.
Students must check the [email protected] subject site for detailed assessment information and submission procedures.
Policy on late submission and extensions
A late penalty will be applied to all overdue assessment tasks unless an extension is granted by the subject coordinator. The standard penalty will be 10% of marks awarded to that assessment per day late with no assessment to be accepted seven days after the due date. Where a student is granted an extension, the penalty of 10% per day late starts from the new due date.
Policy on plagiarism
University’s Academic Integrity Policy defines plagiarism as the act of misrepresenting as one’s own original work: another’s ideas, interpretations, words, or creative works; and/or one’s own previous ideas, interpretations, words, or creative work without acknowledging that it was used previously (i.e., self-plagiarism). The University considers the act of plagiarising to be a breach of the Student Conduct Code and, therefore, subject to the Discipline Regulations which provide for a range of penalties including the reduction of marks or grades, fines and suspension from the University.
Feedback on assessment
Feedback on assessment will be provided to students within two weeks of the assessment submission due date, as per the Assessment Policy.
Accessibility and Inclusion Support
If you have a disability, illness, injury or health condition that impacts your capacity to complete studies, exams or assessment tasks, it is important you let us know your special requirements, early in the semester. Students will need to make an application for support and submit it with recent, comprehensive documentation at an appointment with a Disability Officer. Students with a disability are encouraged to contact the Disability Office at the earliest possible time, to meet staff and learn about the services available to meet your specific needs. Please note that late notification or failure to disclose your disability can be to your disadvantage as the University cannot guarantee support under such circumstances.
Role of RNA in transcription and translation, the genetic code, transcription, RNA polymerase, mRNA processing, translation, tRNA, ribosomes1.
Transcriptional control, chromatin remodeling, DNA methylation, genomic imprinting, gene structure, promoters, alternative splicing, RNA interference (RNAi)1.
Types of DNA mutation, mutagenic agents, Ames test, biological consequences of mutation, DNA repair mechanisms3.