Unit convenor and teaching staff |
Unit convenor and teaching staff
Convenor, Lecturer, Demonstrator
Mark Baker
Contact via 9850-8211
Office 19, T75
Mon-Thurs 10-5, Fri 9-12
Lecturer
Helen Rizos
Contact via 9850-2762
Office 22, T75
Mon-Weds 10-3, Fri 10-3
Lecturer
Ian Blair
Contact via 9850-2725
Office xx, T75
contact by email
Lecturer
Shoba Ranganathan
Contact via 9850-6262
Level 1, F7B
Mon-Fri 10-3
Lecturer
Ashley Crook
MUH
contact by email
Lecturer
Stuart Graham
MUH
contact by email
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Credit points |
Credit points
3
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Prerequisites |
Prerequisites
Admission to BClinSc and (12cp at 100 level) and (6cp at 200 level)
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Corequisites |
Corequisites
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Co-badged status |
Co-badged status
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Unit description |
Unit description
During this unit you will explore the science and technologies underlying the use of genetics/genomics and other "omics" and their application in personalised medicine. You will revise the molecular bases for inheritance, and the DNA/RNA technologies that are revolutionizing medical genetics and genomics. You will apply principles of classical genetics to understand the inheritance of defined traits and simple (monogenic) diseases, examine newer approaches for understanding the inheritance of common diseases, and learn about the behaviour of genes in populations. The emerging discipline of genomic medicine and the use of personal "omic" information for clinical care is examined. Cancer is emphasised as a leading example of the use of genomics and other "omics" data for the personalised diagnosis, prognosis, treatment and response to therapy of patients.
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Information about important academic dates including deadlines for withdrawing from units are available at https://www.mq.edu.au/study/calendar-of-dates
On successful completion of this unit, you will be able to:
Assessment: Your raw marks from assessments are combined into a weighted sum. The weighted sums for the whole class are ranked, and compared across other units for appropriate consistency. This process of comparison allows for the identification of unusual influences on class performance that might warrant the weighted sums of marks being scaled or otherwise altered. The numerical cut-off for each descriptive grade is then determined. The numerical value which you are issued with (i.e., Standardised Numerical Grade; SNG) is determined to match your descriptive grade by standardising weighted sums of raw marks to match standard scores out of 100. The SNG gives you an indication of how you have performed within the band for your descriptive grade. As the SNG is the result of scaling the weighted sum of your raw marks, you won't be able to:
It is our professional responsibility as your mentors to assign you a grade that accurately reflects your performance. Our grading decisions are subject to scrutiny by academic colleagues at the Program, Faculty and University level.
Grades ranging from High Distinction to Fail are defined as follows:
Grade |
SNG |
Description |
HD High Distinction |
85-100 |
Work of outstanding quality. This may be demonstrated in areas such as criticism, logical argument, and interpretation of materials or use of methodology. This grade may also be awarded to recognise a high order of originality or creativity in student performance |
D Distinction |
75-84 |
Work of superior quality in the same areas of performance as above. This grade may also be awarded to recognise particular originality or creativity in student performance |
Cr Credit |
65-74 |
Work of predominantly good quality, demonstrating a sound grasp of content together with efficient organisation, selectivity and use of techniques |
P Pass |
50-64 |
Satisfactory achievement of unit objectives |
F Fail |
0-49 |
Failure to achieve unit objectives |
Name | Weighting | Hurdle | Due |
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Practical Session Write-Ups | 30% | No | Tuesday 2pm, Weks 2,3,4 |
Oral Presentation | 20% | No | Weeks 5-7 |
Essay | 20% | No | Feb 17th 1pm |
Final Exam | 30% | No | end Week 6 |
Due: Tuesday 2pm, Weks 2,3,4
Weighting: 30%
All laboratories will be conducted in groups. These have a highly investigative approach, where you will be conducting analysis to apply theoretical knowledge to understand genetics/genomics/omics data. You will be required to write reports for 3 practicals in MEDI209, each is only one week long (3 x 10% = 30% of your total assessment). The detailed requirements for each report will be given with notes available before or at the beginning of each practical class. Prac reports are due during the semester one week after the practical class is complete. Please check iLearn for due dates. All prac reports should be submitted to the MEDI209 coordinator directly.
Due: Weeks 5-7
Weighting: 20%
You will be randomly (out-of-a-hat) assigned to either a Hot Topic team PPT oral presentation or to one side of a Debate (POSITIVE/NEGATIVE). These will occur during the practicals classes (hot topics first followed by debates) held in weeks 4-6 of the unit.
These will be chaired by the tutors assisting in the running of the practical classes.
Both Hot Topics and Debates will be video recorded for assessment and edited for future marketing of the BClinSci program and the MEDI209 unit.
Due: Feb 17th 1pm
Weighting: 20%
Maximum 2,000 word essay (not including tables, figures and references) on a topic of relevance to personalised/precision medicine.
Due: end Week 6
Weighting: 30%
The final exam (30% total assessment) will be composed of multiple short answer questions and is 2hr in length with 10min reading time. It is designed to address specific understanding of topics presented in lectures, practicals and peer-assisted oral presentation learning exercises. It also assesses that the knowledge you have obtained can be applied to new problems. It is Macquarie University policy to not set early examinations for individuals or groups of students.
Lectures, 12hr; Seminars/Tutorials, 12hr; Assessments, 60hr; Class Preparation, 50hr; Labs, 9hr; Other, 3hr; Total, 150hrs.
Lecture, Practical, Hot Topic, Debate |
MEDI209 Lecture, Practical, Hot Topic or Debate Topic (“Genetics & Genomics in Medicine” Strachan et al., 2015 with MQ research examples) |
Academic Responsible |
Date/ Due Date |
Time |
MQ Location |
Week 1 L1 |
DNA, Chromosomes & Cells (Chap 1; pp1-18) |
MSB |
Jan 9th |
9-10 |
L1, 75 Talavera |
L2 |
Gene Structure/Expression & the Human Genome (Chap 2; pp19-56) |
MSB |
Jan 10th |
10-11 |
L1, 75 Talavera |
Prac 1 |
Global Gene Expression Profiling (Transcriptomic Profiling) |
HR |
Jan 10th |
13 -17 |
EMC2 Computer Lab |
Week 2 L3 |
Underpinning DNA Technologies - PCR, Cloning (Chap 3; pp57-79) |
HR |
Jan 16th |
9-10 |
L1, 75 Talavera |
L4 |
Genome Sequencing Technologies Through the Ages |
IB |
Jan 17th |
10-11 |
L1, 75 Talavera |
Prac 2 |
Next-Gen Sequencing and the Integrated Genome Viewer for Disease Prediction and Susceptibility Analysis |
IB/DB (CSIRO) |
Jan 17th |
13 -17 |
EMC2 Computer Lab |
Week 3 L5 |
Single Gene Disorders, Inheritance, Allele Frequencies (Chap 5; pp 117-148) |
IB |
Jan 23rd |
9-10 |
L1, 75 Talavera |
L6 |
Identifying Disease Genes & Susceptibility (Chap 7; pp189-247) |
IB |
Jan24th |
10-11 |
L1, 75 Talavera |
Prac 3 |
Proteomics Big Data – HPP, Ingenuity, Human Protein Atlas & MissingProteinPedia |
MSB |
Jan 24th |
13 -17 |
EMC2 Computer Lab |
Week 4 L7 |
Epigenetics & Gene Regulation (Chap 6; pp149-188) |
SG |
Jan 30th |
9-10 |
L1, 75 Talavera |
L8 |
Genetic Counselling & Approaches to Treating Disease [Reading Task for Final Exam: Chaps 8 and 9; pp247-370] |
AC |
Jan 31st |
10-11 |
L1, 75 Talavera |
HT1 |
Nik-Zainal S et al., Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016 May 2;534(7605):47-54. doi: 10.1038/nature17676. |
MSB |
Jan 31st |
1 -1:30 |
L1, 75 Talavera |
HT2 |
Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer, Nature, 487, 330-7. 2012. doi:10.1038/nature11252. |
MSB |
Jan 31st |
1:30-2 |
L1, 75 Talavera |
D1 |
Next-gen human genome sequencing will allow the diagnosis and treatment of human cancers within a decade. |
MSB |
Jan 31st |
2-4 |
L1, 75 Talavera |
Week 5 L9 |
Transcriptomics: Global Expression Analysis to Medicine |
HR |
Feb 6th |
9-10 |
L1, 75 Talavera |
L10 |
Big Data & the “Omics” Revolution |
SR |
Feb 7th |
10-11 |
L1, 75 Talavera |
HT3 |
Single-cell genome sequencing: current state of the science, Gawad, Koh & Quake. Nature Reviews Genetics 17, 175–188.2016. |
MSB |
Feb 7th |
1 -1:30 |
L1, 75 Talavera |
HT4 |
Kaiser J. The gene editor CRISPR won’t fully fix sick people anytime soon. Here’s why. May 3rd 2016. Science. |
MSB |
Feb 7th |
1:30-2 |
L1, 75 Talavera |
D2 |
Personalised omics will solve the problem that currently “more than 90% of drugs only work in 30-50% of people”. |
MSB |
Feb 7th |
2-4 |
L1, 75 Talavera |
Week 6 L11 |
Cancer Genetics, Genomics & the TCGA (Chap 10; pp373-427) |
MSB |
Feb 13th |
9-10 |
L1, 75 Talavera |
Essay (1,500 word) |
Compare/Contrast the Human Genome & Human Proteome Projects as they Pertain to Personalised Medicine |
MSB |
Feb 13th |
9am |
|
L12 |
Personalised Cancer “Omics”, Human Proteome Project & Human Protein Atlas |
MSB |
Feb 14th |
10-11 |
L1, 75 Talavera |
HT5 |
Proteomic analysis of colon & rectal carcinoma using standard & customized databases. Slebos et al., Scientific Data 2, 150022. 2015. |
MSB |
Feb 14th |
1 -1:30 |
L1, 75 Talavera |
HT6 |
Facilitating a culture of responsible and effective sharing of cancer genome data. Siu et al., Nature Medicine 22, 464–471. 2016. |
MSB |
Febr14th |
1:30-2 |
L1, 75 Talavera |
D3 |
Healthy Lifestyle Is More Important than CVD Genetic Risk Factors. |
MSB |
Feb 14th |
2-4 |
L1, 75 Talavera |
Exam (2hr) |
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Feb 17th |
2-4pm |
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Macquarie University policies and procedures are accessible from Policy Central. Students should be aware of the following policies in particular with regard to Learning and Teaching:
Academic Honesty Policy http://mq.edu.au/policy/docs/academic_honesty/policy.html
Assessment Policy http://mq.edu.au/policy/docs/assessment/policy_2016.html
Grade Appeal Policy http://mq.edu.au/policy/docs/gradeappeal/policy.html
Complaint Management Procedure for Students and Members of the Public http://www.mq.edu.au/policy/docs/complaint_management/procedure.html
Disruption to Studies Policy (in effect until Dec 4th, 2017): http://www.mq.edu.au/policy/docs/disruption_studies/policy.html
Special Consideration Policy (in effect from Dec 4th, 2017): https://staff.mq.edu.au/work/strategy-planning-and-governance/university-policies-and-procedures/policies/special-consideration
In addition, a number of other policies can be found in the Learning and Teaching Category of Policy Central.
Macquarie University students have a responsibility to be familiar with the Student Code of Conduct: https://students.mq.edu.au/support/student_conduct/
Results shown in iLearn, or released directly by your Unit Convenor, are not confirmed as they are subject to final approval by the University. Once approved, final results will be sent to your student email address and will be made available in eStudent. For more information visit ask.mq.edu.au.
Macquarie University provides a range of support services for students. For details, visit http://students.mq.edu.au/support/
Learning Skills (mq.edu.au/learningskills) provides academic writing resources and study strategies to improve your marks and take control of your study.
Students with a disability are encouraged to contact the Disability Service who can provide appropriate help with any issues that arise during their studies.
For all student enquiries, visit Student Connect at ask.mq.edu.au
For help with University computer systems and technology, visit http://www.mq.edu.au/about_us/offices_and_units/information_technology/help/.
When using the University's IT, you must adhere to the Acceptable Use of IT Resources Policy. The policy applies to all who connect to the MQ network including students.
Our graduates will also be capable of creative thinking and of creating knowledge. They will be imaginative and open to experience and capable of innovation at work and in the community. We want them to be engaged in applying their critical, creative thinking.
This graduate capability is supported by:
We want our graduates to have emotional intelligence and sound interpersonal skills and to demonstrate discernment and common sense in their professional and personal judgement. They will exercise initiative as needed. They will be capable of risk assessment, and be able to handle ambiguity and complexity, enabling them to be adaptable in diverse and changing environments.
This graduate capability is supported by:
Our graduates will have enquiring minds and a literate curiosity which will lead them to pursue knowledge for its own sake. They will continue to pursue learning in their careers and as they participate in the world. They will be capable of reflecting on their experiences and relationships with others and the environment, learning from them, and growing - personally, professionally and socially.
This graduate capability is supported by:
Our graduates will take with them the intellectual development, depth and breadth of knowledge, scholarly understanding, and specific subject content in their chosen fields to make them competent and confident in their subject or profession. They will be able to demonstrate, where relevant, professional technical competence and meet professional standards. They will be able to articulate the structure of knowledge of their discipline, be able to adapt discipline-specific knowledge to novel situations, and be able to contribute from their discipline to inter-disciplinary solutions to problems.
This graduate capability is supported by:
We want our graduates to be capable of reasoning, questioning and analysing, and to integrate and synthesise learning and knowledge from a range of sources and environments; to be able to critique constraints, assumptions and limitations; to be able to think independently and systemically in relation to scholarly activity, in the workplace, and in the world. We want them to have a level of scientific and information technology literacy.
This graduate capability is supported by:
Our graduates should be capable of researching; of analysing, and interpreting and assessing data and information in various forms; of drawing connections across fields of knowledge; and they should be able to relate their knowledge to complex situations at work or in the world, in order to diagnose and solve problems. We want them to have the confidence to take the initiative in doing so, within an awareness of their own limitations.
This graduate capability is supported by:
We want to develop in our students the ability to communicate and convey their views in forms effective with different audiences. We want our graduates to take with them the capability to read, listen, question, gather and evaluate information resources in a variety of formats, assess, write clearly, speak effectively, and to use visual communication and communication technologies as appropriate.
This graduate capability is supported by:
As local citizens our graduates will be aware of indigenous perspectives and of the nation's historical context. They will be engaged with the challenges of contemporary society and with knowledge and ideas. We want our graduates to have respect for diversity, to be open-minded, sensitive to others and inclusive, and to be open to other cultures and perspectives: they should have a level of cultural literacy. Our graduates should be aware of disadvantage and social justice, and be willing to participate to help create a wiser and better society.
This graduate capability is supported by:
We want our graduates to be aware of and have respect for self and others; to be able to work with others as a leader and a team player; to have a sense of connectedness with others and country; and to have a sense of mutual obligation. Our graduates should be informed and active participants in moving society towards sustainability.
This graduate capability is supported by:
Not offered previously