This course provides a deep understanding of the genetic and molecular basics of human health, including diseases and the impact of environmental factors on well-being.

 Recent advances in genomics, transcriptomics, proteomics and biocomputing, coupled with innovative genome editing and molecular therapeutic technologies, enabled unprecedented capabilities to monitor health, identify molecular drivers and treat human diseases with critical effects on quality of life and economy. Advanced analytical technologies drive the development of personalised therapeutic approaches to treat disease, guiding therapeutic decisions and treatment selection based on the specific biomolecular background of the patients.

Using a range of specific diseases or inheritance processes as examples, lecturers will introduce their own research and will provide examples of specific diseases, their underlying mechanisms or inheritance processes. This course will examine how genetic and genomic technologies and translational research can be applied to elucidate the disease mechanisms and develop novel therapies.

The course will cover contemporary and advanced concepts in human genetics and will expand on gene expression control, genome evolution, gene-environment interactions, mutation prediction and genome editing in application to medical problems.

The course is delivered by biomedical scientists working at the John Curtin School of Medical Research, and the topics incorporate their specific research interests and in-depth expertise, providing a unique opportunity to directly connect to the research performed in the top biomedical research groups.

You will learn about:

• Disorders and diseases affecting blood, reproductive, endocrine and neurological systems at the molecular level.
• Gene expression pathways and molecular control mechanisms invoked in inherited or acquired disorders and upon environmental pressures.
• Genomic analysis tools including next-generation sequencing approaches and methods of genome editing and non-invasive gene therapy.
• Biomolecular and computational approaches to diagnosing and treating 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. Demonstrate detailed and advanced knowledge of the links between genomic variation, environmental impacts and disease phenotype.
2. Analyse and assess the molecular mechanisms that cause specific diseases and methods of their investigation.   
3. Apply next-generation biomolecular and computational methods in disease.
4. Demonstrate knowledge of the concepts and approaches in personalised medicine.
5. Locate, discuss and critically analyse research findings available in the published and peer-reviewed literature on human disease and pathophysiology.
6. Communicate and critically evaluate scientific concepts and findings in different formats.

Research-Led Teaching

The course teaches advanced molecular genetics and foundations of genomic and personalised medicine. The lecturers are experts in their topics and run active research, examples of which they will showcase in the material. Assessments such as "Poster", creative piece and tutorials will additionally connect the students with the research practices, facilitate reading and critically evaluating new discoveries.

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.
• 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 may 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	LecturesWeeks 1-12, 3 lectures per weekThe course will generally have 3 lectures run weekly for each topic, with some possible variation. The lectures will be provided by JCSMR and external scientists specialising in the respective topic. Students are encouraged to take proactive position, attend in person, ask questions and interact with lecturers.Each topic will be accompanied by a quiz (as part of the assessment and contributes to the marks for the course) opened at or after the week of the topic.TutorialsWeeks 1-12, 1 tutorial per weekMost topics will be accompanied by a tutorial. Tutorial will be a student-driven activity taking different forms, from discussion and detailing of the lecture content, to some practical tasks. Tutorials will be an excellent opportunity to communicate closer with the lecturers, ask any questions, seek additional clarification towards the topic material and assessments including the exams and assessment tasks.	Assessment Task 1:Online multiple choice quizzes on all lecture topics (1-12).Assessment Task 2:Journal Club presentation (topics 1 to 5).Assessment Task 3:Mid semester exam (topics 1-6).Assessment Task 4:Creative piece - patient consultation (topics 1-10).Assessment Task 5:End-of-semester exam (topics 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	Due Date	Return of assessment	Learning Outcomes
Online Multiple Choice Quizzes	12 %	*	*	1,2,3,4
Journal Club Presentation	22 %	28/08/2025	01/09/2025	1,2,4,5,6
Mid Semester Exam	22 %	19/09/2025	11/10/2025	1,2,3,4,5
Creative piece - Patient consultation	22 %	16/10/2025	28/10/2025	1,2,3,4,5,6
End of Semester Exam	22 %	*	*	1,2,4

* 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 ‘Canvas’ 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 expected to actively participate throughout the course, particularly with respect to attendance/engagement during lectures and tutorials. Attendance during tutorials is compulsory. All in-room lectures will be recorded and posted to Canvas. Additional face-to-face meetings can be arranged if required.

To pass this course you must achieve an overall mark of 50% or more, including all assessments, and an average mark of at least 45% in the mid-semester and end-of-semester exams combined.

Students who achieve a final result of 45-49% for the course will be offered supplementary assessment.

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)

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

Online Multiple Choice Quizzes

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

Value: 12% total for the course for all quizzes.

Estimated due date: One week following each respective topic. See details on Canvas

Estimated return date: Two days after due date.

Assessment Task 2

Journal Club Presentation

Read and understand prescribed research results from a research publication (topic 1-5). Create a journal club presentation that encompasses an introduction covering the biological context, some key results, a conclusion, limitation, strength, significance of the chosen topic. Submit the Journal Club presentation (20 minute pre-recorded) via Canvas .

Estimated due date: 28 August 2025, 5:00 pm 

Estimated return date: 11 September 2025

Assessment Task 3

Mid Semester Exam

An in-person closed-book examination.

Students will be required to answer questions relating to a selection from topics 1-6.

The exam will be scheduled for the 19 September 2025.

The exam components of this course are hurdle assessments. To pass the course students must a combined average of 45% in the mid-semester and end-of-semester exams.

Assessment Task 4

Creative piece - Patient consultation

Students will receive a pathology report and are required to generate a creative piece explaining the diagnosis/disease and its implication to "their patient" (non-scientific audience)

The creative piece needs to cover the disease mechanism (underlying genetic cause), disease phenotype, diagnostic methods and therapeutic strategies. Submit your creative piece via Canvas.

Estimated due date: 16 October 2025, 5:00 pm 

Estimated return date: 28 October 2025

Assessment Task 5

End of Semester Exam

An in-person closed-book examination.

Students will be required to answer questions relating to a selection from topics 7-12.

The exam will be scheduled after the conclusion of Semester 2 during the University exams period.

The exam components of this course are hurdle assessments. To pass the course students must a combined average of 45% in the mid-semester and end-of-semester exams.

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 are 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.

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. Any use of artificial intelligence must be properly referenced. Failure to properly cite use of Generative AI will be considered a breach of academic integrity.

Returning Assignments

Assignment results will be returned to students via Canvas.

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 Accessibility 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 supports you make your own decisions about how you learn and manage your workload.
• ANU Counselling promotes, supports and enhances mental health and wellbeing within the University student community.
• ANUSA supports and represents all ANU students