GENETICS 3211 - Gene Expression & Human & Developmental Genetics III

North Terrace Campus - Semester 2 - 2021

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. The practical component of the course will extend students' familiarity with various laboratory and/or analytical techniques used in human and developmental genetics through a number of laboratory and scientific literature research projects. Attendance at the majority of workshops during this course must be given priority as there is assessment during every workshop. There is no final exam for this course.

  • General Course Information
    Course Details
    Course Code GENETICS 3211
    Course Gene Expression & Human & Developmental Genetics 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 Y
    Prerequisites GENETICS 2510 & GENETICS 2520 or equivalent
    Incompatible GENETICS 3212, GENETICS 3520
    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. The practical component of the course will extend students' familiarity with various laboratory and/or analytical techniques used in human and developmental genetics through a number of laboratory and scientific literature research projects. Attendance at the majority of workshops during this course must be given priority as there is assessment during every workshop. There is no final exam for this course.
    Course Staff

    Course Coordinator: Associate Professor Michael Lardelli

    Course Timetable

    The full timetable of all activities for this course can be accessed from Course Planner.

  • Learning Outcomes
    Course Learning Outcomes
    The course aims to give students a level of understanding of concepts and experimental techniques in the areas of gene regulation, developmental genetics and human genetics that would enable them to develop competencies expected of a university graduate in Genetics. The course cannot hope to cover comprehensively the very broad range of research questions in these areas but it will give students understanding of specific exemplary questions and provide them with knowledge of how they can extend their learning as required by future studies and employment. The practical aspect of the course aims to equip students with sufficient fundamental skills to apply them to a broad range of positions requiring these skills.



    On 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 the 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
  • Learning Resources
    Required Resources
    This course will require the following texts and other resources:

     Text for Human Genetics lectures: 'Human Molecular Genetics - 4th Edition' by Strachan and Read.

    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 the practical. These are supplied by lecturers running each practical)

    Practical Laboratories (if doing the practical)

    Scientific equipment

    Lecture theatres and tutorial rooms

    Access to University Library

    Access to computers and internet including a portable internet-capable device for workshops (preferably a laptop computer)

    Students must supply laboratory coat and safety glasses for their own use

  • Learning & Teaching Activities
    Learning & Teaching Modes
    This 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).

    Workshops
    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 workshops will be given over to a summative test on the material delivered during the previous 3 weeks

    For Covid -19
    The workshops will now be held online using Zoom, and the online tests will still be conducted with an access code delivered to the audience before each test begins.

    Practicals
    72 hours of laboratory/other practical work per semester (plus up to an hour of preparation for each of 18 possible practical sessions).

    For Covid -19
    Practical components will be adjusted to be delivered online only. Assessment of practical work will be after online submission of written work, likely through MyUni.
    Workload

    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 etc.).
    Learning Activities Summary

     

    Week   Type of Learning Activity Topic
    1 Pre-workshop material Developmental Neurogenetics
    Workshop Developmental Neurogenetics
    Practical Developmental Genetics (Drosophila and zebrafish)
    2 Pre-workshop material  Developmental Neurogenetics
    Workshop Developmental Neurogenetics
    Practical Developmental Genetics (Drosophila and zebrafish)
    3 Pre-workshop material Developmental Neurogenetics
    Workshop Developmental Neurogenetics
    Practical Developmental Genetics (Drosophila and zebrafish)
    4 Pre-workshop material Developmental Genetics
    Workshop Developmental Genetics
    Practical Additional Developmental Genetics time if needed
    5 Pre-workshop material Regulation of Gene Expression / Epigenetics
    Workshop Regulation of Gene Expression / Epigenetics
    Practical Epigenetics and Plant Transgenics
    6 Pre-workshop material Regulation of Gene Expression / Epigenetics
    Workshop Regulation of Gene Expression / Epigenetics
    Practical Epigenetics and Plant Transgenics
    7 Pre-workshop material Regulation of Gene Expression / Epigenetics  and  Cancer Genetics
    Workshop Regulation of Gene Expression / Epigenetics  and  Cancer Genetics
    Practical Epigenetics and Plant Transgenics
    8 Pre-workshop material Plant Developmental Genetics
    Workshop Plant Developmental Genetics
    Practical Epigenetics and Plant Transgenics
    Mid Semester Break
    9 Pre-workshop material Human Genetics
    Workshop Human Genetics
    Practical Human Molecular Genetics: Positional Cloning of Human Genetic Diseases Presentation and Scientific Paper Interpretation Exercises
    10 Pre-workshop material Human Genetics
    Workshop Human Genetics including Cancer Genetics
    Practical Human Molecular Genetics: Positional Cloning of Human Genetic Diseases Presentation and Scientific Paper Interpretation Exercises
    11 Pre-workshop material Human Genetics
    Workshop Human Genetics including Cancer Genetics
    Practical Human Molecular Genetics: Positional Cloning of Human Genetic Diseases Presentation and Scientific Paper Interpretation Exercises
    12 Pre-workshop material Human Genetics
    Workshop Human Genetics including Cancer Genetics
    Practical Human Molecular Genetics: Positional Cloning of Human Genetic Diseases Presentation and Scientific Paper Interpretation Exercises
    13* Pre-workshop material
    Workshop
    Practical
    Specific Course Requirements
    This course will require the following texts and other resources:

     Text for Human Genetics lectures: 'Human Molecular Genetics - 4th Edition' by Strachan and Read.

    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 the practical. These are supplied by lecturers running each practical)

    Practical Laboratories (if doing the practical)
    Scientific equipment

    Lecture theatres and tutorial rooms

    Access to University Library

    Access to computers and internet including a portable internet-capable device for workshops (preferably a laptop computer)

    Students must supply laboratory coat and safety glasses for their own use

  • Assessment

    The University's policy on Assessment for Coursework Programs is based on the following four principles:

    1. Assessment must encourage and reinforce learning.
    2. Assessment must enable robust and fair judgements about student performance.
    3. Assessment practices must be fair and equitable to students and give them the opportunity to demonstrate what they have learned.
    4. Assessment must maintain academic standards.

    Assessment Summary
    Assessment Task Type of Assessment Percentage of total assessemnt for grading purposes Hurdle
    Yes/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
    Research Report I Summative 15% No 1, 4, 6 Weeks 1-4*
    Research Report II Summative 15% No 2, 4, 5 Weeks 5-8*
    Written and/or oral interpretation of scientific
    literature
    Summative 20% No 3, 4, 6 Weeks 9-12



    *May be either in Weeks 1-4 or Weeks 5-8


    Assessment Detail
    Each of the following three assessed components is conducted over a 4 week period, although the order may vary from year to year:

     Research Report I– Gene regulation laboratory practical (15% of course grade, summative assessment, Learning
    objective 1, 4, 5, 6).

     Research Report II– Developmental genetics laboratory practical (15% of course grade, summative assessment, Learning Objectives 2, 4, 5, 6).

    Literature review and presentation Students must extract information from a scientific journal paper(s) and translate this into a description of the research and conclusions that is understandable by an informed layman. Written and/or oral presentation of the
    information is possible. Students are assessed on the content and delivery of the information. (20% of course grade, summative assessment, Learning Objectives 3, 4, 6)

     Tests in workshops (total 35% of course grade, Learning Objectives 1, 2, 3, 4). Up to 10 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.

     



    Submission
    Submission 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.


    Course Grading

    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.

  • Student Feedback

    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.

  • Student Support
  • Policies & Guidelines
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