GENETICS 3212 - Gene Expression & Human & Developmental Genetics (Biomed) III
North Terrace Campus - Semester 2 - 2019
General Course Information
Course Code GENETICS 3212 Course Gene Expression & Human & Developmental Genetics (Biomed) III Coordinating Unit School of Biological Sciences Term Semester 2 Level Undergraduate Location/s North Terrace Campus Units 6 Contact Up to 12 hours per week Available for Study Abroad and Exchange N Prerequisites GENETICS 2510 & GENETICS 2520 or equivalent Incompatible GENETICS 3211, GENETICS 3520 Restrictions Available to BSc (Biomedical Science) students only Course Description The material taught in this course is organised around the theme of genes - how genes function and their roles in animal and plant development and disease. The aim is to give students an appreciation, at an advanced level, of the mechanisms that control gene expression, the genetic determination of developmental pathways, the various types of human genetic mutation that lead to disease, the pathogenic pathways from genotype to phenotype and the legal regulatory framework for research in genetics. Attendance at the majority of workshops during the course must be given priority as there is assessment during every workshop. There is no final exam for this course.
Course Coordinator: Associate Professor Michael Lardelli
The full timetable of all activities for this course can be accessed from Course Planner.
Course Learning OutcomesOn successful completion of this course students should be able to:
1. Understand the underlying conceptual framework regarding the regulation of genes and how research expands our knowledge in this area
2. Understand the underlying conceptual framework regarding how genes control embryo development and how research expands our knowledge in this area
3. Understand the underlying conceptual framework regarding human genetics and how research expands our knowledge in this area
4. Research the scientific literature to comprehend and analyse scientific research data described in peer-reviewed journals
5. Record laboratory research notes, analyse and evaluate experimental data and synthesise reports on such data
6. Extract relevant information from literature databases for synthesis and presentation in written or oral form
University Graduate Attributes
This course will provide students with an opportunity to develop the Graduate Attribute(s) specified below:
University Graduate Attribute Course Learning Outcome(s) Deep discipline knowledge
- informed and infused by cutting edge research, scaffolded throughout their program of studies
- acquired from personal interaction with research active educators, from year 1
- accredited or validated against national or international standards (for relevant programs)
1, 2, 3, 4, 5, 6 Critical thinking and problem solving
- steeped in research methods and rigor
- based on empirical evidence and the scientific approach to knowledge development
- demonstrated through appropriate and relevant assessment
4, 5, 6 Career and leadership readiness
- technology savvy
- professional and, where relevant, fully accredited
- forward thinking and well informed
- tested and validated by work based experiences
4, 5, 6 Self-awareness and emotional intelligence
- a capacity for self-reflection and a willingness to engage in self-appraisal
- open to objective and constructive feedback from supervisors and peers
- able to negotiate difficult social situations, defuse conflict and engage positively in purposeful debate
4, 5, 6
Required ResourcesThis course will require the following texts and other resources:
Text for Human Genetics lectures: 'Human Molecular Genetics - 4th Edition' by Strachan
Copies of scientific papers for Gene Regulation and Developmental Genetics aspects of the
course (supplied by the lecturers)
Collaborating research laboratories
Practical manuals (if doing genetics/molecular biology laboratory practical work. These are supplied by lecturer/s running each practical)
Practical Laboratories (if doing the practical)
Lecture theatres and tutorial rooms
Access to University Library
Access to computers and internet including a portable internet-capable device during workshops
Students must supply laboratory coat and safety glasses for their own use
Learning & Teaching Activities
Learning & Teaching ModesThis course will be delivered by the following means:
“Pre-workshop” material in the form of pre-recorded lectures or assigned reading material etc. 8 hours per week (includes revision of delivered material).
4 workshops of 1 hour each per week. During the workshops the “pre-workshop” material is reviewed (and any students’ questions on this answered). To reinforce and extend student learning, issues in genetics are discussed, data in scientific papers are analysed and problem-solving exercises are conducted. Each workshop includes an up to 10 minute in-workshop summative and formative test reviewing previous learning. Four of the up to 48 possible workshop sessions will be given over to a summative test on the material delivered during the previous 3 weeks
72 hours of laboratory/other practical work per semester.
The information below is provided as a guide to assist students in engaging appropriately with the course requirements.A student enrolled in a 6 unit course, such as this, should expect to spend, on average 24 hours per week on the studies required. This includes both the formal contact time required to the course (e.g., workshops and practicals), as well as non-contact time (e.g., watching pre-workshop recorded presentations, reading, and revision).
Learning Activities SummaryMaterial taught in this course has been organised around the theme of genes – how they function and their roles in animal and plant development and disease. The aim is to give an appreciation, at an advanced level, of the mechanisms that control gene expression, the genetic determination of developmental pathways, the various types of human genetic mutation that lead to disease and the pathogenic pathways from genotype to phenotype.
The particular topics covered by the participating lecturers may differ from year to year depending upon e.g. advances in the science.
Workshops will be conducted in the “flipped lecture” format where students are assigned pre-workshop material to assimilate (e.g. a recorded lecture and/or a particular scientific paper etc. to read before attending the next workshop) and they then discuss the material/engage in exercises to reinforce and extend their understanding of the delivered content in the workshop. (This may include delivery of additional material by the lecturer.) Each workshop will include a short written (paper-based) or on-line summative and formative assessment on material delivered in the current and previous workshops and on the pre-workshop material. Once every three weeks an entire workshop will be given over to an on-line summative test of the previous three weeks’ material.
Laboratory placement (or Practical classes and other work)
For the laboratory placement, students are hosted, under supervision, in a biomedical research laboratory for a total of at least 72 hours of laboratory time. They will have a research project to perform and will also research the scientific literature to synthesise a review appropriate to the project and, at the end, a report describing and evaluating the work done and the results. Students who do not obtain a laboratory placement will perform an alternative set of tasks. They will be given a “focus genetic disease” as a central research theme and will then synthesise a written review of the scientific literature on this disease, synthesise and present an essay on current and possible future treatment options for the disease and present a case study of the disease orally. They will also perform the equivalent of 24 hours of genetics/molecular biology laboratory practical work consisting of small research projects requiring recording of research data followed by analysis and evaluation.
The University's policy on Assessment for Coursework Programs is based on the following four principles:
- Assessment must encourage and reinforce learning.
- Assessment must enable robust and fair judgements about student performance.
- Assessment practices must be fair and equitable to students and give them the opportunity to demonstrate what they have learned.
- Assessment must maintain academic standards.
Assessment task Type of assessment Percentage of total
assessment for grading purposes #
Yes or No #
Outcomes being assessed / achieved Approximate Timing of Assessment Short tests in each workshop Formative/Summative 35% No 1, 2, 3, 4 Weeks 1-12 1-hour, on-line examination every three weeks Summative 15% No 1, 2, 3, 4 Weeks 3, 6, 9, 12 For laboratory placement: Literature review Formative/Summative 20% No 4, 6 Week 8 Research report Summative 20% No 4, 5, 6 Week 12 Supervisor assessment Summative 10% No 5 Week 12 For Focus Genetic Disease work: Literature Review Summative/Formative 15% No 4, 6 Week 7 Oral presentation Formative/Summative 10% No 4, 6 Week 12 Lab practical Report Summative/Formative 15% No 5, 6 Week 5 Essay Summative/Formative 10% No 4, 6 Week 10
1. For those with Laboratory Placements:
Literature review for laboratory placement project (20% of course grade) ~2,500 words and fully referenced on the background to the laboratory project. This is due at the end of week 8 (Formative and summative assessment).
The course co-ordinator will call for all placement laboratory hosts to interview their students at the end of week 5 to provide feedback to them about how they are progressing in their laboratory work and to discuss progress in writing the literature review.
Research Report on laboratory placement project (20% of course grade). ~2,000 words (plus figures) describing and discussing the research project results. This is due at the end of the semester (Summative assessment).
Supervisor assessment (10% of course grade) of general approach to laboratory work and the skills displayed in the laboratory. (Summative assessment)
2. For Focused Genetic Disease work (study of a particular genetic disease):
4 weeks (6 x 4 hour sessions) of Developmental Genetics laboratory practical work (15% of course grade, summative assessment and formative assessment, Learning objectives 2,4,5.)
Literature review of the focus genetic disease (15% of the course grade) ~2,500 words and fully referenced on the background to the focus genetic disease. (Summative and formative assessment)
Essay on current treatments and future treatment options/possibilities for the focus genetic disease (10% of the course grade) ~1,500 words and fully referenced. (Summative assessment)
Oral presentation (Powerpoint) of a case study of a person with the focus genetic disease (10% of the course grade, summative assessment).
For all students:
Tests in workshops (total 35% of course grade, Learning Objectives 1, 2, 3, 4). Up to ten minutes during each workshop will be devoted to answering questions assessing material in that and previous workshops and the pre-workshop material. This will test and reinforce students’ understanding of the course material. To avoid problems with students occasionally missing workshops (due to course clashes or illness), a student’s final accumulated mark for these examinations will be made up of their best 30 workshop examination scores (from the possible 43 examinations). A generous length of time will be allowed for completion of the questions. (Formative and summative assessment.)
Extended 1 hour, multiple choice question (MCQ) examinations conducted online (total 15% of course grade, Learning Objectives 1, 2, 3, 4). These will be held in Weeks 3, 6, 9, and 12 and will examine any material delivered over the preceding three weeks. The examinations will occur during a timetabled workshop session but will not require attendance at the lecture theatre by the student. There are four workshop sessions per week and each test will be held during a different session time. This will test and reinforce students’ understanding of the course material. To avoid problems with students unable to sit one of the 4 tests (due to course clashes or illness), a student’s final accumulated mark for these examinations will be made up of their best 3 examination scores. A generous length of time will be allowed for completion of the questions. (Summative assessment.)
There is no end-of-semester examination for this course.
SubmissionSubmission of Developmental Genetics Practical workbooks is into the submission box at the front desk of the Molecular Life Sciences Building. Submission of other essays is via MyUni and will include checking for plagiarism by Turnitin. Details on submission are provided in the Course Handbook and/or Practical manuals etc.
Late submission of assessments
If an extension is not applied for, or not granted then a penalty for late submission will apply. A penalty of 10% of the value of the assignment for each calendar day that is late (i.e. weekends count as 2 days), up to a maximum of 50% of the available marks will be applied. This means that an assignment that is 5 days or more late without an approved extension can only receive a maximum of 50% of the mark.
Grades for your performance in this course will be awarded in accordance with the following scheme:
M10 (Coursework Mark Scheme) Grade Mark Description FNS Fail No Submission F 1-49 Fail P 50-64 Pass C 65-74 Credit D 75-84 Distinction HD 85-100 High Distinction CN Continuing NFE No Formal Examination RP Result Pending
Further details of the grades/results can be obtained from Examinations.
Grade Descriptors are available which provide a general guide to the standard of work that is expected at each grade level. More information at Assessment for Coursework Programs.
Final results for this course will be made available through Access Adelaide.
The University places a high priority on approaches to learning and teaching that enhance the student experience. Feedback is sought from students in a variety of ways including on-going engagement with staff, the use of online discussion boards and the use of Student Experience of Learning and Teaching (SELT) surveys as well as GOS surveys and Program reviews.
SELTs are an important source of information to inform individual teaching practice, decisions about teaching duties, and course and program curriculum design. They enable the University to assess how effectively its learning environments and teaching practices facilitate student engagement and learning outcomes. Under the current SELT Policy (http://www.adelaide.edu.au/policies/101/) course SELTs are mandated and must be conducted at the conclusion of each term/semester/trimester for every course offering. Feedback on issues raised through course SELT surveys is made available to enrolled students through various resources (e.g. MyUni). In addition aggregated course SELT data is available.
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This section contains links to relevant assessment-related policies and guidelines - all university policies.
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- Assessment for Coursework Programs
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- Modified Arrangements for Coursework Assessment
- Student Experience of Learning and Teaching Policy
- Student Grievance Resolution Process
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