General Information
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.
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Details
Academic unit: Faculty of Health Sciences and Medicine Subject code: BMED11-207 Subject title: Medical and Molecular Genetics Subject level: Undergraduate Semester/Year: January 2024 Credit points: 10.000 -
Delivery & attendance
Timetable: https://bond.edu.au/timetable Delivery mode: Standard Workload items: - Science Lab: x6 (Total hours: 12) - Science Lab
- Forum: x12 (Total hours: 36) - Weekly Forums
- Tutorial: x12 (Total hours: 12) - Weekly Tutorial
- Personal Study Hours: x12 (Total hours: 60) - Personal Study
Attendance and learning activities: Attendance at tutorials is compulsory. Students are required to attend a minimum of 75% of the tutorials and submit worksheets from the tutorial each week in order to pass the subject. -
Resources
Prescribed resources: Books
- Klug, W. S., Cummings, M. R., Spencer, C. A., Palladino, M. A., & Killian, D. J. (2019). Concepts of Genetics. 12th ed., Pearson.
iLearn@Bond & Email: iLearn@Bond is the Learning Management System at Bond University and is used to provide access to subject materials, class 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
| Academic unit: | Faculty of Health Sciences and Medicine |
|---|---|
| Subject code: | BMED11-207 |
| Subject title: | Medical and Molecular Genetics |
| Subject level: | Undergraduate |
| Semester/Year: | January 2024 |
| Credit points: | 10.000 |
| Timetable: | https://bond.edu.au/timetable |
|---|---|
| Delivery mode: | Standard |
| Workload items: |
|
| Attendance and learning activities: | Attendance at tutorials is compulsory. Students are required to attend a minimum of 75% of the tutorials and submit worksheets from the tutorial each week in order to pass the subject. |
| Prescribed resources: | Books
|
|---|---|
| iLearn@Bond & Email: | iLearn@Bond is the Learning Management System at Bond University and is used to provide access to subject materials, class 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 |
Enrolment requirements
| Requisites: |
Nil |
|---|---|
| Assumed knowledge: |
Assumed knowledge is the minimum level of knowledge of a subject area that students are assumed to have acquired through previous study. It is the responsibility of students to ensure they meet the assumed knowledge expectations of the subject. Students who do not possess this prior knowledge are strongly recommended against enrolling and do so at their own risk. No concessions will be made for students’ lack of prior knowledge. Assumed Prior Learning (or equivalent):
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| Restrictions: |
Nil |
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.
Generative Artificial Intelligence in Assessment
The University acknowledges that Generative Artificial Intelligence (Gen-AI) tools are an important facet of contemporary life. Their use in assessment is considered in line with students’ development of the skills and knowledge which demonstrate learning outcomes and underpin study and career success. Instructions on the use of Gen-AI are given for each assessment task; it is your responsibility to adhere to these instructions.
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Assessment details
Type Task % Timing* Outcomes assessed Computer-Aided Examination (Closed) End of Semester Exam - online iLearn 40.00% Final Examination Period 1,2,3,4,5 Case Study 4 x Labster simulation lab activities 10.00% Week 1 1,2,3,4,5,6,7,8 Computer-aided Test (Closed) Mid-Semester Test 20.00% Week 6 1,2,3,4,5 Case Study Lab Reports weeks 7 and 12 10.00% Week 7 1,2,3,4,5,7,8 Presentation§ Debate Club (Ethics & Genetics) 20.00% Ongoing 6,8 - § 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.
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Assessment criteria
Assessment criteria
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. Quality assurance
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.
| Type | Task | % | Timing* | Outcomes assessed |
|---|---|---|---|---|
| Computer-Aided Examination (Closed) | End of Semester Exam - online iLearn | 40.00% | Final Examination Period | 1,2,3,4,5 |
| Case Study | 4 x Labster simulation lab activities | 10.00% | Week 1 | 1,2,3,4,5,6,7,8 |
| Computer-aided Test (Closed) | Mid-Semester Test | 20.00% | Week 6 | 1,2,3,4,5 |
| Case Study | Lab Reports weeks 7 and 12 | 10.00% | Week 7 | 1,2,3,4,5,7,8 |
| Presentation§ | Debate Club (Ethics & Genetics) | 20.00% | Ongoing | 6,8 |
- § 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.
Assessment criteria
| 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. |
Quality assurance
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.
Study Information
Submission procedures
Students must check the iLearn@Bond 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.
Academic Integrity
Bond University‘s Student Code of Conduct Policy , Student Charter, Academic Integrity Policy and our Graduate Attributes guide expectations regarding student behaviour, their rights and responsibilities. Information on these topics can be found on our Academic Integrity webpage recognising that academic integrity involves demonstrating the principles of integrity (honesty, fairness, trust, professionalism, courage, responsibility, and respect) in words and actions across all aspects of academic endeavour.
Staff are required to report suspected misconduct. This includes all types of plagiarism, cheating, collusion, fabrication or falsification of data/content or other misconduct relating to assessment such as the falsification of medical certificates for assessment extensions. The longer term personal, social and financial consequences of misconduct can be severe, so please ask for help if you are unsure.
If your work is subject to an inquiry, you will be given an opportunity to respond and appropriate support will be provided. Academic work under inquiry will not be marked until the process has concluded. Penalties for misconduct include a warning, reduced grade, a requirement to repeat the assessment, suspension or expulsion from the University.
Feedback on assessment
Feedback on assessment will be provided to students according to the requirements of the Assessment Procedure Schedule A - Assessment Communication Procedure.
Whilst in most cases feedback should be provided within two weeks of the assessment submission due date, the Procedure should be checked if the assessment is linked to others or if the subject is a non-standard (e.g., intensive) subject.
Accessibility and Inclusion Support
Support is available to students where a physical, mental or neurological condition exists that would impact the student’s capacity to complete studies, exams or assessment tasks. For effective support, special requirement needs should be arranged with the University in advance of or at the start of each semester, or, for acute conditions, as soon as practicable after the condition arises. Reasonable adjustments are not guaranteed where applications are submitted late in the semester (for example, when lodged just prior to critical assessment and examination dates).
As outlined in the Accessibility and Inclusion Policy, to qualify for support, students must meet certain criteria. Students are also required to meet with the Accessibility and Inclusion Advisor who will ensure that reasonable adjustments are afforded to qualifying students.
For more information and to apply online, visit BondAbility.
Additional subject information
Subject curriculum
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1. Introduction to Genetics
History of genetics, structure of DNA, complementary base pairing, chromosome structure, DNA packing.
SLOs included
- 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.
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2. Sex Determination and Chromosome Disorders
Human sex determination, X chromosome inactivation, sex chromosome disorders, autosomal chromosomal disorders, karyotyping, structural changes in chromosomes.
SLOs included
- 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.
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3. Mendelian Genetics
Mendelian inheritance, dominant, recessive and sex-linked inheritance patterns, human pedigrees.
SLOs included
- 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.
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4. Extensions of Mendelian Genetics
Mitochondrial inheritance, co-dominance, pentrance, anticipation, epistasis, pleiotrophy.
SLOs included
- 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.
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5. DNA Replication and the Polymerase Chain Reaction
Semi-conservative DNA replication, enzymes involved, leading and lagging strand synthesis, the polymerase chain reaction (PCR), electrophoresis.
SLOs included
- Describe the mechanisms relating to storage, replication and expression of genetic material.
- Develop laboratory and analytical skills in the area of molecular genetics.
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6. Transcription and Translation
Role of RNA in transcription and translation, the genetic code, transcription, RNA polymerase, mRNA processing, translation, tRNA, ribosomes.
SLOs included
- Describe the mechanisms relating to storage, replication and expression of genetic material.
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7. Regulation of Gene Expression
Transcriptional control, chromatin remodeling, DNA methylation, genomic imprinting, gene structure, promoters, alternative splicing, RNA interference (RNAi)
SLOs included
- Describe the mechanisms relating to storage, replication and expression of genetic material.
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8. Gene Mutation and DNA Repair
Types of DNA mutation, mutagenic agents, Ames test, biological consequences of mutation, DNA repair mechanisms.
SLOs included
- Provide a comprehensive overview of mechanisms of DNA mutation and repair.
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9. Genomes and Genetic Variation
The human genome, polymorphic DNA, SNPs, CNVs, STRs, DNA profiling, population genetics, Hardy-Weinberg principle.
SLOs included
- 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.
- Describe methods of identifying human disease genes and treatment of genetic disorders.
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10. Genetic Disorders
Common single-gene-disorders, inborn errors of metabolism, genetic factors in common disease.
SLOs included
- Explain the relationship between chromosomal, single- and multifactorial-gene mutations and human disease.
- Describe methods of identifying human disease genes and treatment of genetic disorders.
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11. Cancer Genetics
Somatic and hereditary cancers, oncogenes, tumour suppressor genes, chromosomal alterations, multi-step model of cancer development.
SLOs included
- 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.
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12. Revision
Revision of Weeks 1-11 material.
SLOs included
- 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.