GENETICS 3212 - Gene Expression & Hum Devel Genetics (Biomed) III

North Terrace Campus - Semester 2 - 2016

The material taught in this courses is organised around the theme of genes ? how genes function and their roles in 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 and the pathogenic pathways from genotype to phenotype. The practical component of the course will extend students? familiarity with various laboratory and/or analytical techniques used in human, developmental or other areas of genetics. Eligible students will be placed in a research laboratory to do a research project or will do a mixture of group laboratory-based practicals with literature review/essay/oral presentation tasks.

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Course Details

Course Code	GENETICS 3212
Course	Gene Expression & Hum Devel Genetics (Biomed) III
Coordinating Unit	School of Biological Sciences
Term	Semester 2
Level	Undergraduate
Location/s	North Terrace Campus
Units	6
Contact	Up to 18 hours per fortnight
Available for Study Abroad and Exchange	N
Prerequisites	GENETICS 2510 & GENETICS 2520 or equivalent
Incompatible	GENETICS 3211, GENETICS 3210 & GENETICS 3520
Restrictions	Available to BSc(BiomedSc) students only
Assessment	Final Exam, Literature review, Research report, MCQ Exam

Course Staff

Course Coordinator: Associate Professor Michael Lardelli

Course Timetable

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

Course Learning Outcomes

1	Understanding of the underlying conceptual framework regarding the regulation of genes and how research expands our knowledge in this area
2	Understanding of the underlying conceptualframework regarding how genes control embryo development and how research expands our knowledge in this area
3	Understanding of the underlying conceptual framework regarding human genetics and how research expands our knowledge in this area
4	Comprehension of scientific research data described in peer-reviewed journals
5	Recording of laboratory research notes and analysis and reporting of experimental data
6	The ability to extract relevant information from literature databases and to present it 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 genetics/molecular biology laboratory practical work. These are supplied by lecturer/s 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

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

Learning & Teaching Modes

This course will be delivered by the following means:

3 lectures of 1 hour each per week

1 tutorial of 1 hour per fortnight

12 hours of practical laboratory/laboratory placement/other work per fortnight

Workload

The information below is provided as a guide to assist students in engaging appropriately with the course requirements.

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., lectures and practicals), as well as non-contact time (e.g., reading and revision).

Learning Activities Summary

Week	Type of Learning Activity	Topic
1	Lecture	Developmental Neurogenetics
	Practical	Placement or Developmental Genetics Practical
	Tutorial or Other Activity	None
2	Lecture	Developmental Neurogenetics
	Practical	Placement or Developmental Genetics Practical
	Tutorial or Other Activity	Developmental Genetics
3	Lecture	Developmental Genetics
	Practical	Placement or Developmental Genetics Practical
	Tutorial or Other Activity	None
4	Lecture	Plant Developmental Genetics
	Practical	Placement or Developmental Genetics Practical
	Tutorial or Other Activity	Developmental Genetics
5	Lecture	Regulation of Gene Expression / Epigenetics
	Practical	Placement or Focus Genetic Disease literature review
	Tutorial or Other Activity	Plant Developmental Genetics
6	Lecture	Regulation of Gene Expression / Epigenetics
	Practical	Placement or Focus Genetic Disease literature review
	Tutorial or Other Activity	None
7	Lecture	Regulation of Gene Expression / Epigenetics
	Practical	Placement or Focus Genetic Disease literature review
	Tutorial or Other Activity	Regulation of Gene Expression / Epigenetics
8	Lecture	Regulation of Gene Expression / Epigenetics
	Practical	Placement or essay on current treatments and future treatment options/possibilities
	Tutorial or Other Activity	Regulation of Gene Expression / Epigenetics
Mid Semester Break
9	Lecture	Human Genetics including Cancer Genetics
	Practical	Placement or oral presentation of a case study of the focus genetic disease
	Tutorial or Other Activity	Regulation of Gene Expression / Epigenetics
10	Lecture	Human Genetics including Cancer Genetics
	Practical	Placement or oral presentation of a case study of the focus genetic disease
	Tutorial or Other Activity	Human Genetics including Cancer Genetics
11	Lecture	Human Genetics including Cancer Genetics
	Practical	Placement or oral presentation of a case study of the focus genetic disease
	Tutorial or Other Activity	None
12	Lecture	Human Genetics including Cancer Genetics
	Practical	End of Placement
	Tutorial or Other Activity	Human Genetics including Cancer Genetics
13*	Lecture
	Practical
	Tutorial or Other Activity

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 Summary

Assessment task	Type of assessment	Percentage of total assessment for grading purposes #	Hurdle Yes or No #	Outcomes being assessed / achieved
Multiple Choice Question Examination	Formative/Summative	5%	No	1, 2, 3, 4
Final Examination	Summative	55%	No	1, 2, 3, 4

For laboratory placement:
Literature review	Formative/Summative	15%	No	3, 4, 6
Research report	Summative	15%	No	1/2/3, 4, 5 ( “/” = “or” )
Supervisor assessment	Summative	10%	No	4, 5

For Focus Genetic Disease work:
Literature Review (~2,500 words) on a particular ("Focus") Genetic Disease	Formative/Summative	10%	No	3, 4, 6
Oral presentation, 10 minutes, on a case study of the Focus Genetic Disease	Summative/Formative	10%	No	3, 4, 6
Developmental Genetics Laboratory Practical	Summative/Formative	10%	No	2, 4, 5
Essay (~1,500 words) on current treatments and future treatment options/ possibilities for the Focus Genetic Disease	Summative/Formative	10%	No	3, 4, 6

*The order in which the above four practical components will be conducted may vary from year to year.

Assessment Detail

For students doing the laboratory placement:

Literature review for laboratory placement project (15% of course grade, Learning objectives 3,4,6) ~2,500 words and fully referenced on the background to the laboratory project. This is due at the end of the 8th week of the semester. (Formative and summative assessment)

The course convenor 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 of the literature review. (Formative assessment, no grade given.)

Research Report on laboratory placement project (15% of course grade, Learning objectives 1/2/3, 4, 5 [“/” = “or” ]). ~1,500 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, Learning objectives 4,5)

For students doing Focus Genetic Disease work:

4 weeks (6 x 4 hour sessions) of Developmental Genetics laboratory practical work (10% of course grade, summative assessment and formative assessment, Learning objectives 2,4,5.)

Literature review of the focus genetic disease (i.e. of a particular genetic disease, 10% of course grade) ~2,500 words and fully referenced on the background to the focus genetic disease. (Summative and formative assessment, Learning objectives 3,4 6)

Essay on current treatments and future treatment development options/possibilities for the focus genetic disease (10% of course grade, summative and formative assessment, Learning objectives 3,4 6)

Oral presentation (Powerpoint) of a case study of the focus genetic disease (10% of course grade, summative and possibly formative assessment*, Learning objectives 3,4 6)

For all students:

Multiple Choice Questions (MCQ) examination (5% of course grade, Learning Objectives 1 or 2 or 3 and 4). Students must complete a set of on-line, multiple choice questions to assess their comprehension and ability to use the information delivered in lectures during the first four weeks of semester. This is primarily a formative assessment exercise but the results will contribute 5% of their final course grade.

Final examination (55% of course grade, Learning Objectives 1, 2, 3, 4). This will be a three hour examination assessing any/all theoretical aspects of the course. The examination includes compulsory areas but also a limited choice of questions within each compulsory area. (Summative assessment)

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 .

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
This section contains links to relevant assessment-related policies and guidelines - all university policies.
Fraud Awareness

Students are reminded that in order to maintain the academic integrity of all programs and courses, the university has a zero-tolerance approach to students offering money or significant value goods or services to any staff member who is involved in their teaching or assessment. Students offering lecturers or tutors or professional staff anything more than a small token of appreciation is totally unacceptable, in any circumstances. Staff members are obliged to report all such incidents to their supervisor/manager, who will refer them for action under the university's student鈥檚 disciplinary procedures.

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Authorised by:	Deputy Vice-Chancellor and Vice-President (Academic)
Maintained by:	Course Outlines Administrator

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