This course provides an introduction to new discoveries in areas of importance to our understanding of human genetics and disease. Fuelled by sequencing of the human genome and new methods of investigating biological function, research into the genetic and molecular causes of human disease is advancing at a rapid pace. We will examine not only the genetic abnormalities underlying human disease and disorders but also the breakdown in physiological processes and molecular biology caused by the genetic lesion. We will look at how this knowledge can lead to new disease treatments and to personalised precision medicine. We will also explore some of the societal issues raised by new technologies and treatments. We will cover topics including:

• Fundamental concepts in human genetics

• Fundamental concepts in heredity and genomic medicine

• Genetic variation in individuals

• Genetic variation in populations

• Molecular basis of genetic disease

 

Note: Graduate students attend joint classes with undergraduates but are assessed separately.

Learning Outcomes

Upon successful completion, students will have the knowledge and skills to:

1. Explain fundamental concepts in heredity, human genetics and genomic medicine using specific disease examples and appreciate the duties, responsibilities and challenges facing the professionals who perform these analyses
2. Explain how variation in the coding and non-coding components of the human genome that can result in genetic disease
3. Discuss how the latest advances in genomic technologies and how they can be applied to disease gene identification and precision medicine
4. Predict how environmental factors can contribute to genetic disease
5. Explain and evaluate the importance of model organisms and systems to our investigation of basic principles in human genetics
6. Explain and evaluate the societal issues raised by new genetic technologies and treatments
7. Identify and navigate relevant literature, specialised web sites and databases used for research into human genetics and use these sources to develop and test hypotheses in the field of human genetics
8. Evaluate, synthesise and critically review literature describing recent research into human genetics

Research-Led Teaching

Practical classes use techniques and data from research projects and require the same active learning techniques used in a research setting.

Lectures provided by ANU researchers and Canberra Hospital staff with examples based around their research and/or health role.

Examination Material or equipment

Permitted materials: Non-programmable Calculator

Recommended Resources

Recommended Textbooks:

Genetics: a conceptual approach.

6th Edition 2017, Benjamin A Pierce.     

Thompson & Thompson Genetics in Medicine 8th Edition 2015

Authors: Robert Nussbaum Roderick McInnes Huntington Willard

Recommended student system requirements 

ANU courses commonly use a number of online resources and activities including:

• video material, similar to YouTube, for lectures and other instruction
• two-way video conferencing for interactive learning
• email and other messaging tools for communication
• interactive web apps for formative and collaborative activities
• print and photo/scan for handwritten work
• home-based assessment.

To fully participate in ANU learning, students need:

• A computer or laptop. Mobile devices may work well but in some situations a computer/laptop may be more appropriate.
• Webcam
• Speakers and a microphone (e.g. headset)
• Reliable, stable internet connection. Broadband recommended. If using a mobile network or wi-fi then check performance is adequate.
• Suitable location with minimal interruptions and adequate privacy for classes and assessments.
• Printing, and photo/scanning equipment

For more information please see https://www.anu.edu.au/students/systems/recommended-student-system-requirements

Staff Feedback

Students will be given feedback in the following forms in this course:

• Via the feedback function of Turnitin
• Face-to-face discssion with assessment marker at student drop-in sessions

Student Feedback

ANU is committed to the demonstration of educational excellence and regularly seeks feedback from students. Students are encouraged to offer feedback directly to their Course Convener or through their College and Course representatives (if applicable). The feedback given in these surveys is anonymous and provides the Colleges, University Education Committee and Academic Board with opportunities to recognise excellent teaching, and opportunities for improvement. The Surveys and Evaluation website provides more information on student surveys at ANU and reports on the feedback provided on ANU courses.

Class Schedule

Week/Session	Summary of Activities	Assessment
1	Course structure weeks 1-12: 2-3 lectures per week; 6 computer practicals (up to 3 hours each); 1-2 tutorials (up to 3 hours each); Optional student drop-in session (up to 2 hours). Student driven content in which demonstrators are available to clarify assignment tasks, assignment feedback and lecture content	Take home assignments corresponding to practicals. Online multiple choice questions linked to lecture topics Written reflection End of semester exam in exam period.

Assessment Summary

Assessment task	Value	Due Date	Return of assessment	Learning Outcomes
Assignment 1 (corresponding to practical class 1, 2 and 3)	22 %	*	*	1,2,3,4,6,7,8,9
Assignment 2 (corresponding to practical class 4, 5 and 6)	23 %	*	*	2,3,4,6,7,8,9
Lecture topic multiple choice questions	10 %	*	*	4,5,6,7,8,9
Written reflection	5 %	*	*	9
Final Exam	40 %	03/06/2021	01/07/2021	4,5,6,7,8,9

* If the Due Date and Return of Assessment date are blank, see the Assessment Tab for specific Assessment Task details

Policies

ANU has educational policies, procedures and guidelines, which are designed to ensure that staff and students are aware of the University’s academic standards, and implement them. Students are expected to have read the Academic Misconduct Rule before the commencement of their course. Other key policies and guidelines include:

• Student Assessment (Coursework) Policy and Procedure
• Special Assessment Consideration Policy and General Information 
• Student Surveys and Evaluations
• Deferred Examinations
• Student Complaint Resolution Policy and Procedure

Assessment Requirements

The ANU is using Turnitin to enhance student citation and referencing techniques, and to assess assignment submissions as a component of the University's approach to managing Academic Integrity. For additional information regarding Turnitin please visit the Academic Integrity . In rare cases where online submission using Turnitin software is not technically possible; or where not using Turnitin software has been justified by the Course Convener and approved by the Associate Dean (Education) on the basis of the teaching model being employed; students shall submit assessment online via ‘Wattle’ outside of Turnitin, or failing that in hard copy, or through a combination of submission methods as approved by the Associate Dean (Education). The submission method is detailed below.

Moderation of Assessment

Marks that are allocated during Semester are to be considered provisional until formalised by the College examiners meeting at the end of each Semester. If appropriate, some moderation of marks might be applied prior to final results being released.

Participation

No classes are compulsory.

Examination(s)

It is not necessary to pass the exam to pass the course.

Permitted materials in all exams: Non-programmable Calculator

Further information on the exam format will be provided during the course.

Please note, that where a date range is used in the Assessment Summary in relation to exams, the due date and return date indicate the approximate timeframe in which the exam will be held and results returned to the student (official end of Semester results released on ISIS). Students should consult the course wattle site and the ANU final examination timetable to confirm the date, time and venue of the exam.

Assessment Task 1

Assignment 1 (corresponding to practical class 1, 2 and 3)

The assignment set will consist of written question/short answer based problems. Assignments will be made available on Wattle as far in advance of the corresponding practical class as is reasonably possible. Assignments for Masters students contain different content to undergraduate assignments and are assessed separately.

Due: ~ 2 weeks after the last associated practical

Returned: One to two weeks after submission

Assessment Task 2

Assignment 2 (corresponding to practical class 4, 5 and 6)

The assignment set will consist of written question/short answer based problems. Assignments will be made available on Wattle as far in advance of the corresponding practical class as is reasonably possible. Assignments for Masters students contain different content to undergraduate assignments and are assessed separately.

Due: ~ 2 weeks after the last associated practical

Returned: One to two weeks after submission

Assessment Task 3

Lecture topic multiple choice questions

Multplie choice questions addressing material covered in lectures will be set for each lecture topic (5 topics in the course). They will be made available online in Wattle as Quizzes immediately after the conclusion of each lecture topic, and must be submitted approximately one week later (exact opening and closing dates will be advised by the convener).

Due: ~ 1 week after the last associated topic lecture

Returned: ~ 1 week after submission

Assessment Task 4

Written reflection

A 300-500 word written reflection on student's own opinions and thoughts raised after studying the ethical and societal issues concerning Indigenous people and the use and study of their genetic data. Guidelines and expections for this item will be provided by convenors and topic lecturer on Wattle.

Due: ~ 2 weeks after the associated topic lecture

Returned: ~ 1 week after submission

Assessment Task 5

Final Exam

The date range in the Assessment Summary indicates the start of the end of semester exam period and the date official end of semester results are released on ISIS. Please check the ANU final Examination Timetable http://www.anu.edu.au/students/program-administration/assessments-exams/examination-timetable to confirm the date, time and location exam.

Academic Integrity

Academic integrity is a core part of the ANU culture as a community of scholars. At its heart, academic integrity is about behaving ethically, committing to honest and responsible scholarly practice and upholding these values with respect and fairness.

The ANU commits to assisting all members of our community to understand how to engage in academic work in ways that are consistent with, and actively support academic integrity. The ANU expects staff and students to be familiar with the academic integrity principle and Academic Misconduct Rule, uphold high standards of academic integrity and act ethically and honestly, to ensure the quality and value of the qualification that you will graduate with.

The Academic Misconduct Rule is in place to promote academic integrity and manage academic misconduct. Very minor breaches of the academic integrity principle may result in a reduction of marks of up to 10% of the total marks available for the assessment. The ANU offers a number of online and in person services to assist students with their assignments, examinations, and other learning activities. Visit the Academic Skills website for more information about academic integrity, your responsibilities and for assistance with your assignments, writing skills and study.

Online Submission

You will be required to electronically sign a declaration as part of the submission of your assignment. Please keep a copy of the assignment for your records. Unless an exemption has been approved by the Associate Dean (Education) submission must be through Turnitin.

Hardcopy Submission

For some forms of assessment (hand written assignments, art works, laboratory notes, etc.) hard copy submission is appropriate when approved by the Associate Dean (Education). Hard copy submissions must utilise the Assignment Cover Sheet. Please keep a copy of tasks completed for your records.

Late Submission

Late submission permitted. Late submission of assessment tasks without an extension are penalised at the rate of 5% of the possible marks available per working day or part thereof. Late submission of assessment tasks is not accepted after 10 working days after the due date, or on or after the date specified in the course outline for the return of the assessment item. Late submission is not accepted for take-home examinations.

Referencing Requirements

Accepted academic practice for referencing sources that you use in presentations can be found via the links on the Wattle site, under the file named “ANU and College Policies, Program Information, Student Support Services and Assessment”. Alternatively, you can seek help through the Students Learning Development website.

Returning Assignments

Assignments will be returned via Turnitin or as agreed with the convenor for hard copy submissions.

Extensions and Penalties

Extensions and late submission of assessment pieces are covered by the Student Assessment (Coursework) Policy and Procedure. Extensions may be granted for assessment pieces that are not examinations or take-home examinations. If you need an extension, you must request an extension in writing on or before the due date. If you have documented and appropriate medical evidence that demonstrates you were not able to request an extension on or before the due date, you may be able to request it after the due date.

Resubmission of Assignments

Resubmission of assignments is not allowed.

Privacy Notice

The ANU has made a number of third party, online, databases available for students to use. Use of each online database is conditional on student end users first agreeing to the database licensor’s terms of service and/or privacy policy. Students should read these carefully. In some cases student end users will be required to register an account with the database licensor and submit personal information, including their: first name; last name; ANU email address; and other information.
In cases where student end users are asked to submit ‘content’ to a database, such as an assignment or short answers, the database licensor may only use the student’s ‘content’ in accordance with the terms of service – including any (copyright) licence the student grants to the database licensor. Any personal information or content a student submits may be stored by the licensor, potentially offshore, and will be used to process the database service in accordance with the licensors terms of service and/or privacy policy.
If any student chooses not to agree to the database licensor’s terms of service or privacy policy, the student will not be able to access and use the database. In these circumstances students should contact their lecturer to enquire about alternative arrangements that are available.

Distribution of grades policy

Academic Quality Assurance Committee monitors the performance of students, including attrition, further study and employment rates and grade distribution, and College reports on quality assurance processes for assessment activities, including alignment with national and international disciplinary and interdisciplinary standards, as well as qualification type learning outcomes.

Since first semester 1994, ANU uses a grading scale for all courses. This grading scale is used by all academic areas of the University.

Support for students

The University offers students support through several different services. You may contact the services listed below directly or seek advice from your Course Convener, Student Administrators, or your College and Course representatives (if applicable).

• ANU Health, safety & wellbeing for medical services, counselling, mental health and spiritual support
• ANU Diversity and inclusion for students with a disability or ongoing or chronic illness
• ANU Dean of Students for confidential, impartial advice and help to resolve problems between students and the academic or administrative areas of the University
• ANU Academic Skills and Learning Centre supports you make your own decisions about how you learn and manage your workload.
• ANU Counselling Centre promotes, supports and enhances mental health and wellbeing within the University student community.
• ANUSA supports and represents undergraduate and ANU College students
• PARSA supports and represents postgraduate and research students