This course focusses on understanding genetic and molecular causes of important human diseases. Recent advances in human genomics, genome-editing and molecular therapeutics are enabling unprecedented understanding and treatment of many important human diseases. Using a range of specific diseases as examples, this course will examine how genetic and genomic technologies may be applied to elucidate disease mechanisms and develop therapies.  It will also cover contemporary and advanced concepts in human genetics that extend on topics taught in BIOL3204/6204 Genetics of Human Disease, such as genome evolution, gene-environment interactions, mutation prediction, and genetic regulation and genome editing. The course is taught largely by medical researchers working at the John Curtin School of Medical Research, and the topics incorporate their own specific research interests.

 

We will cover topics including:

• Disorders and diseases affected the pulmonary, blood, endocrine, vision and neurological systems.

• Genomic analysis tools for mutation prediction and generation, including genome editing.

• Impact of disease on genome evolution.

• Genetic approaches to treating disease.

Learning Outcomes

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

1. Explain and categorise how genetic mutations cause disease and variable phenotypes in humans.
2. Describe the genetic basis of specific diseases, and how genetics assists in understanding pathophysiology and treatment options.
3. Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
4. Access and utilise web-based and literature-based resources in the field of human disease genetics and pathophysiology.
5. Understand and apply theories in the bioinformatic study of genes and disease-causing mutations.

Recommended Resources

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:

• written comments
• verbal comments
• feedback to whole class, groups, individuals, focus group etc

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). Feedback can also be provided to Course Conveners and teachers via the Student Experience of Learning & Teaching (SELT) feedback program. SELT surveys are confidential and also provide the Colleges and ANU Executive with opportunities to recognise excellent teaching, and opportunities for improvement.

Class Schedule

Week/Session	Summary of Activities	Assessment
1	OverviewThis course will explore in detail several different human diseases with a genetic basis and advanced concepts in human genomics. The underlying molecular and biophysical causes of each disease will be presented in detail and liked to a corresponding dysregulation of the gene expression pathway. Existing and prospective therapeutic avenues for disease management and eradication will also be discussed.You will learn about: Diseases affecting organs and system: the lung, brain and neurological systems, reproduction, vision, erythrocytes and platelets, and metabolic conditions such as diabetes. Diseases affecting cellular pathways and processes: transcriptional anomalies. dysregulations and defects of protein biosynthesis control, diseases based on condensation and phase separation. In each disease, details on the underlying genetics and pathogenesis, and how genetics helps our understanding of pathophysiology, management and treatment. Examples of gene-environment interactions, human genetic evolution, and new concepts in genome function. Conceptual and introductory training in important human genome analysis technologies, including gene-editing (CRISPR-Cas9) and computational approaches for mutation detection. Individual topics will be taught by JCSMR and external invited scientists who are experts in the respective fields, and actively perform highly-ranked research in their disciplines.
2	COURSE SCHEDULE is tentative and subject to changeLectures and Tutorials:Topics as below. Timetable will be posted and updated continually: please refer to Wattle for updated schedules.
3	TopicsThe course is comprised of twelve different topics taught each over one weekly block or one or several lectures. Each week requires attendance (or viewing) of three lectures (1 hour each) and participation in a tutorial or a practical session (2 hours). Tutorials will be either classroom-based Q&A and discussion, or computer or laboratory-based practicals led by the respective topic lecturer and their tutors. Provisions will be made for remote-learning students using Zoom in all teaching sessions and/or worksheets.Topics will be assessed by online multi-choice questions (set at the conclusion of each topic block) that will be made available immediately after the completion of the topic, two exams (mid-semester and end of semester), two assignments relating to specific topics, and a special topic journal club and essay.The topics include: Erythrocytic diseases Genetic brain disorders Reproductive diseases Inherited bleeding disorders DNA repair and disease. Liquid-liquid phase separation and disease Vision genetics Diabetes Genome analysis - variant discovery and annotation Genome editing Protein biosynthesis mechanisms and dysregulations of translational control	Assessment Task 1:Two separate assignments relating to specific topics. Assessment Task 2:Online multiple choice questions on all lecture topics. Assessment Task 3:Mid-semester exam (on Term 1 lecture topics taught in weeks 1-6) Assessment Task 4:End of semester exam (on Term 2 lecture topics taught in weeks 7-12).

Tutorial Registration

ANU utilises MyTimetable to enable students to view the timetable for their enrolled courses, browse, then self-allocate to small teaching activities / tutorials so they can better plan their time. Find out more on the Timetable webpage.

Assessment Summary

Assessment task	Value	Learning Outcomes
Topic assignments	22 %	1,2,3,4
Online multiple choice questions on each topic	18 %	1,2,3,4,5
Mid-semester exam	30 %	1,2,3
End-of-semester exam	30 %	1,2,5

* 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 Integrity Rule before the commencement of their course. Other key policies and guidelines include:

• Academic Integrity Policy and Procedure
• Student Assessment (Coursework) Policy and Procedure
• Extenuating Circumstances Application
• Student Surveys and Evaluations
• Deferred Examinations
• Student Complaint Resolution Policy and Procedure
• Code of practice for teaching and learning

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 Skills website. 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

Students are strongly encouraged to actively participate throughout the course, particularly with respect to attendance/engagement at lectures and tutorials, and using the Wattle forum and chat functions. All in-room lectures and tutorial sessions will also use Zoom to facilitate remote live engagement, and will be recorded and posted to Wattle. Additional face-to-face meetings via video conferencing may also be arranged if required.

To pass this course you must achieve an overall mark of 50% or more, including all assessments. Students are not required to pass the written exams. Students who achieve a final result of 45-49% for the course will be offered supplementary exam.

Refer to ANU Supplementary exams rules at the following site: http://www.anu.edu.au/students/program-administration/assessments-exams/supplementary-exams.

If the supplementary examination is passed, the final result will be 50PS. If the supplementary examination is failed, the final result will be N.”

Examination(s)

Mid-semester exam is scheduled for Week 7. The date time and location will confirmed by course convenor and on the Wattle site.

End of semester exam is scheduled during the end of semester exam period by University Exams Office. 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.

Assessment Task 1

Topic assignments

Read and understand prescribed research papers on the assignment topic. Provide and submit written answers to a set of questions based on the analysis and interpretation of these papers.

Value: 22%

Estimated submission due date: TBA

Estimated return date: One week after submission.

There are 2 topic assignments due this semester.

Please refer to the Wattle site for the Assignment submission dates.

Assessment Task 2

Online multiple choice questions on each topic

Multiple choice questions will be posted on Wattle during the week of each topic. Students are required to answer the questions within 1 week of posting.

Value: 1.5% per topic for submitting and correctly answering all questions by the due date (18% total for the course).

Estimated due date: One week following each respective topic.

Estimated return date: Within two days of due date.

Assessment Task 3

Mid-semester exam

Students will be required to answer questions relating to topics taught during Weeks 1-6.

Example questions will be provided in the lead up to the exam.

The exam will be scheduled during Week 7 and run as an online exam.

There will be no lectures scheduled for Week 7 to assist with study time.

Value: 30%

Assessment Task 4

End-of-semester exam

Students will be required to answer questions relating to topics taught during Weeks 7-12.

Example questions will be provided in the lead up to the exam.

The exam will be scheduled after the conclusion of Semester 2 during the University exams period and run as an online exam.

Value: 30%

Academic Integrity

Academic integrity is a core part of the ANU culture as a community of scholars. The University’s students are an integral part of that community. The academic integrity principle commits all students to engage in academic work in ways that are consistent with, and actively support, academic integrity, and to uphold this commitment by behaving honestly, responsibly and ethically, and with respect and fairness, in scholarly practice.

The University expects all staff and students to be familiar with the academic integrity principle, the Academic Integrity Rule 2021, the Policy: Student Academic Integrity and Procedure: Student Academic Integrity, and to uphold high standards of academic integrity to ensure the quality and value of our qualifications.

The Academic Integrity Rule 2021 is a legal document that the University uses to promote academic integrity, and manage breaches of the academic integrity principle. The Policy and Procedure support the Rule by outlining overarching principles, responsibilities and processes. The Academic Integrity Rule 2021 commences on 1 December 2021 and applies to courses commencing on or after that date, as well as to research conduct occurring on or after that date. Prior to this, the Academic Misconduct Rule 2015 applies.

 

The University commits to assisting all students to understand how to engage in academic work in ways that are consistent with, and actively support academic integrity. All coursework students must complete the online Academic Integrity Module (Epigeum), and Higher Degree Research (HDR) students are required to complete research integrity training. The Academic Integrity website provides information about services available to assist students with their assignments, examinations and other learning activities, as well as understanding and upholding academic integrity.

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

Individual assessment tasks may or may not allow for late submission. Policy regarding late submission is detailed below:

• Late submission not permitted. If submission of assessment tasks without an extension after the due date is not permitted, a mark of 0 will be awarded. Late submission will not be permitted for the online quizzes.
• 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

The Academic Skills website has information to assist you with your writing and assessments. The website includes information about Academic Integrity including referencing requirements for different disciplines. There is also information on Plagiarism and different ways to use source material.

Returning Assignments

Assignments will be returned to students via Wattle.

The exact return date will be posted on the Wattle site.

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 will not be 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 Access 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 all ANU students