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 15, 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 Gallagher
Contact via 9850-2762 (Helen Rizos)
Lecturer
Kelly Williams
Contact via 9850-2731
Level 1, T75
contact by email
Lecturer
Russell Diefenbach
Contact via email
Level 1, T75
contact by email
Matthew Robson
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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 revolutionising 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 |
---|---|---|---|
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 (Weeks 2-4) will be conducted in computer data analysis labs. These labs will have a highly investigative approach, where you will be conducting analysis to apply theoretical knowledge to understand genetics, genomics, and other omics data. You will be required to write reports for each of the 3 MEDI209 practicals. Each is only one week long (i.e., 3 x 10% = 30% of your total assessment). The detailed requirements for each report will be given with notes available before or during each practical class. Prac reports are due during the semester two weeks after the practical class is complete. Please check iLearn for due dates. All prac reports should be submitted to the academic responsible for the labs directly.
Due: Weeks 5-7
Weighting: 20%
You will be randomly assigned either a Hot Topic team PowerPoint oral presentation or to one side of a Debate (POSITIVE/NEGATIVE). These will occur during practicals classes (hot topics first followed by debate) held in weeks 4-6 of the unit.
These will be chaired by demonstrators assisting in the running of practical classes.
Past Hot Topics and Debates have been video recorded for future marketing of the BClinSci program and MEDI209 unit and may occur if physically possible in 2018.
Due: Feb 17th 1pm
Weighting: 20%
Maximum 1,500 word essay (not including any words used in tables, figures, legends or references) on a topic of relevance to personalised/precision medicine. This means that your synthesis of all the ideas you have read and accumulated into new figures, diagnrams, summaries and tables will be highly valued in this exercise.
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 |
MEDI 209 Lecture, Practical, Hot Topic or Debate Topic (“Genetics & Genomics in Medicine” Strachan et al., 2015 with MQ research examples) |
Lead Academic |
Date |
Time |
MQ Location |
Week 1 L1 |
DNA, Chromosomes & Cells (Chap 1; pp1-18) |
MSB |
Jan 8th |
12-13 |
7 Wallys Walk E6B.149 |
L2 |
Gene Structure/Expression & the Human Genome (Chap 2; pp19-56) |
MSB |
Jan 9th |
12-13 |
7 Wallys Walk E6B.149 |
Prac 1 |
Highlighting Protein Structure/Function in Rare Human Diseases (Serpinopathies)
|
MSB |
Jan 10th |
12-15 |
6 Eastern Rd E4B.214 PC Lab |
Week 2 L3 |
Underpinning DNA Technologies - PCR, Cloning (Chap 3; pp57-79) |
RD |
Jan 15th |
12-13 |
7 Wallys Walk E6B.149 |
L4 |
Genome Sequencing Technologies Through the Ages (Chap 3) |
IB |
Jan 16th |
12-13 |
7 Wallys Walk E6B.149 |
Prac 2 |
Global Gene Expression Profiling (Transcriptomic Profiling)
|
HR |
Jan 17th |
12-15 |
6 Eastern Rd E4B.214 PC Lab |
Week 3 L5 |
Single Gene Disorders, Inheritance, Allele Frequencies (Chap 5; pp 117-148) |
KW |
Jan 22nd |
12-13 |
7 Wallys Walk E6B.149 |
L6 |
Identifying Disease Genes & Susceptibility (Chap 7; pp189-247) |
KW |
Jan 23rd |
12-13 |
7 Wallys Walk E6B.149 |
Prac 3 |
Next-Gen Sequencing and Integrated Genome Viewer (Disease Prediction and Susceptibility Analysis) |
DB (CSIRO) |
Jan 24th |
12-15 |
6 Eastern Rd E4B.214 PC Lab |
Week 4 L7 |
Genetic Counselling & Approaches to Treating Disease [Reading Task for Final Exam: Chaps 8 and 9; pp247-370] |
AC |
Jan 29th |
12-13 |
7 Wallys Walk E6B.149 |
L8 |
Epigenetics & Gene Regulation (Chap 6; pp149-188) |
SG |
Jan 30st |
12-13 |
7 Wallys Walk E6B.149 |
HT1/2/3/4 |
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MSB
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Jan 31st |
12-15 |
4 Western Rd W5C.220 Tutorial Rm |
D1 |
Healthy Lifestyle Is More Important than Known Genetic Risk Factors in Cardiovascular Disease. |
MSB |
Jan 31st |
15-16 |
4 Western Rd W5C.220 Tutorial Rm |
Week 5 L9 |
Transcriptomics: Global Expression Analysis to Medicine |
HR |
Feb 5th |
12-13 |
7 Wallys Walk E6B.149 |
L10 |
Cancer Genetics, Genomics and the TCGA (Chap 10; pp373-427) |
MSB |
Feb 6th |
12-13 |
7 Wallys Walk E6B.149 |
Short Essay (1,500 word) |
Critically evaluate Dr Allen Roses (VP GlaxoSmithKline) statement that “fewer than half of the patients prescribed some of the most expensive drugs actually derived any benefit from them”. |
MSB |
Feb 7th |
10 |
75 Talavera, Level 1, Office 19 |
HT5/6/7/8 |
|
MSB |
Feb 7th |
12-15 |
4 Western Rd W5C.220 Tutorial Rm |
D2 |
Offspring generated through MRT (often termed as targeted mitochondrial replacement IVF) will (negative) or will not (affirmative) or be adversely affected from the deployment of what effectively is a three-parent technology http://www.biotechniques.com/news/biotechniquesNews/biotechniques-363775.html#.WH1IIH2Ct41 |
MSB |
Feb 7th |
15-16 |
4 Western Rd W5C.220 Tutorial Rm |
Week 7 L11 |
Big Data: The “Omics” Revolution, HPP & Human Protein Atlas |
SR |
Feb 12th |
12-13 |
7 Wallys Walk E6B.149 |
L12 |
Personalised Cancer “Omics”, Human Proteome Project & Human Protein Atlas |
MSB |
Feb 13th |
12-13 |
7 Wallys Walk E6B.149 |
HT9/10/11/12 |
|
MSB |
Feb 14th |
12-15 |
4 Western Rd W5C.220 Tutorial Rm |
D3 |
Next-gen human genome sequencing will allow the diagnosis and treatment of all human cancers within the next decade. |
MSB |
Feb 14th |
15-16 |
4 Western Rd W5C.220 Tutorial Rm |
Final Exam (2hr) |
An equal combination of Part A (multiple-choice) and Part B (short answer) questions |
MSB |
Feb 16th |
9-11 |
7 Wallys Walk E6B.149 |
Lecturers: MSB (Mark Baker, Biomed Sciences FMHS); HR (Helen Rizos, Biomed Sciences FMHS); RD (Russell Diefenbach, Biomed Sciences FMHS); KW (Kelly Williams, Biomed Sciences); IB (Ian Blair, Biomed Sciences FMHS); AC (Ashley Crook, MUH); SG (Stuart Gallagher); SR (Shoba Ranganathan, CBMS MQ); DB (Denis Bauer, CSIRO eHealth transformational bioinformatics).
Spare Debates/Hot Topics (your team is able to propose one of your own BUT you will need coordinator pre-approval in advance to do so)
Macquarie University policies and procedures are accessible from Policy Central (https://staff.mq.edu.au/work/strategy-planning-and-governance/university-policies-and-procedures/policy-central). Students should be aware of the following policies in particular with regard to Learning and Teaching:
Undergraduate students seeking more policy resources can visit the Student Policy Gateway (https://students.mq.edu.au/support/study/student-policy-gateway). It is your one-stop-shop for the key policies you need to know about throughout your undergraduate student journey.
If you would like to see all the policies relevant to Learning and Teaching visit Policy Central (https://staff.mq.edu.au/work/strategy-planning-and-governance/university-policies-and-procedures/policy-central).
Macquarie University students have a responsibility to be familiar with the Student Code of Conduct: https://students.mq.edu.au/study/getting-started/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:
A review of the BClinSci program has been undertaken in late 2017. After consultation with the MEDI209 2017 class only minor changes have been incorporated into the 2018 unit, with significant changes anticipated at a programatic level in 2019. Following positive comments and constructive feedback, two of the MEDI209 practicals have been simplified/shortened with less emphasis on data construction and increased emphasis on data analysis/interpretation.