MEDSCI 706 : Genomic Medicine

Medical and Health Sciences

2021 Semester Two (15 POINTS)

Course Prescription

Examines a range of medical genetic disorders that illustrate principles of disease mechanisms, diagnosis and management. These will include: haemophilia, familial cancer, late-onset neurological disorders and mitochondrial disease.

Course Overview

There have been remarkable recent advances in the understanding of disease at the molecular level. This paper will examine examples of genetic disorders that illustrate principles of disease mechanisms, diagnosis, and management using this newly acquired knowledge. Disease examples which will be covered will include haemophilia, familial cancer, mitochondrial disorders, as well as the genetics of complex disorders (eg. Diabetes), pharmacogenetics, and the potential for gene therapy in these and related disorders. The structure of the course will include overview seminars from invited lecturers, supplemented by presentations of key papers and studies from members of the class. The studies presented will be critically assessed and discussed in terms of their strengths, weaknesses, the advances they provide and the future directions they indicate. 

Course Requirements

No pre-requisites or restrictions

Course Contacts

Peter Browett (Course director) p.browett@auckland.ac.nz

Capabilities Developed in this Course

Capability 1: Disciplinary Knowledge and Practice
Capability 2: Critical Thinking
Capability 3: Solution Seeking
Capability 4: Communication and Engagement
Capability 5: Independence and Integrity
Capability 6: Social and Environmental Responsibilities

Learning Outcomes

By the end of this course, students will be able to:
  1. Understand and explain the role of genomic changes in cancer, and how these are used to improve diagnostic, therapeutic and monitoring strategies. (Capability 1.1, 1.2, 2.1 and 2.2)
  2. Understand and describe the mechanisms underlying familial cancer syndromes, and how knowledge of these has improved surveillance strategies and our understanding of these syndromes. (Capability 1.1, 1.2, 2.1 and 2.2)
  3. Understand and describe the molecular basis of monogenic disorders, and how knowledge of these has lead to advances in invasive and non invasive prenatal diagnostic strategies. (Capability 2.1, 2.2 and 3.1)
  4. Understand and describe the concept of complex genetic disorders, and the role of population based genetic studies to investigate these disorders further. (Capability 1.1, 1.2, 2.1 and 2.2)
  5. Understand and explain the major advances in knowledge of pharmacogenomics and how advances in this field are used to improve therapy and outcomes for patients. (Capability 1.1, 1.2, 2.1, 2.2, 3.1 and 3.2)
  6. Communicate clearly and succinctly, in a concise essay, a synthesis of relevant up-to date information about a genomic medicine related topic, derived from a small number of carefully selected source materials. (Capability 1.1, 1.2, 2.1, 2.2, 4.1, 4.2, 5.1 and 5.2)
  7. Communicate in writing, an assessment of presentations provided by fellow students, to assist other students to improve their presentation skills. (Capability 4.1, 4.2, 6.1 and 6.2)

Assessments

Assessment Type Percentage Classification
Presentation 15% Individual Coursework
Essay 25% Individual Coursework
Final Exam 60% Individual Examination
Assessment Type Learning Outcome Addressed
1 2 3 4 5 6 7
Presentation
Essay
Final Exam

Workload Expectations

This course is a standard 15 point course and students are expected to spend 10 hours per week involved in each 15 point course that they are enrolled in.

For this course, you can expect 12 hours of lectures, a 12 hour tutorial, 72 hours of reading and thinking about the content and 22 hours of work on assignments and/or test preparation.

Delivery Mode

Campus Experience or Online

This course is offered in two delivery modes:

Campus Experience

Attendance is expected at scheduled activities including seminars to complete components of the course.
Lectures will be available as recordings. Other learning activities including seminars will be available as recordings.
The course will include live online events for seminars.
Attendance on campus is not required for the exam.
The activities for the course are scheduled as a standard weekly timetable.

Online

Attendance is expected at scheduled online activities including seminars to complete components of the course.
The course will include live online events for seminars and these will be recorded.
Attendance on campus is not required for the exam.
Where possible, study material will be released progressively throughout the course.
This course runs to the University semester/quarter timetable and all the associated completion dates and deadlines will apply.

Student Feedback

At the end of every semester students will be invited to give feedback on the course and teaching through a tool called SET or Qualtrics. The lecturers and course co-ordinators will consider all feedback and respond with summaries and actions.

Your feedback helps teachers to improve the course and its delivery for future students.

Class Representatives in each class can take feedback to the department and faculty staff-student consultative committees.

Digital Resources

Course materials are made available in a learning and collaboration tool called Canvas which also includes reading lists and lecture recordings (where available).

Please remember that the recording of any class on a personal device requires the permission of the instructor.

Academic Integrity

The University of Auckland will not tolerate cheating, or assisting others to cheat, and views cheating in coursework as a serious academic offence. The work that a student submits for grading must be the student's own work, reflecting their learning. Where work from other sources is used, it must be properly acknowledged and referenced. This requirement also applies to sources on the internet. A student's assessed work may be reviewed against online source material using computerised detection mechanisms.

Inclusive Learning

All students are asked to discuss any impairment related requirements privately, face to face and/or in written form with the course coordinator, lecturer or tutor.

Student Disability Services also provides support for students with a wide range of impairments, both visible and invisible, to succeed and excel at the University. For more information and contact details, please visit the Student Disability Services’ website http://disability.auckland.ac.nz

Special Circumstances

If your ability to complete assessed coursework is affected by illness or other personal circumstances outside of your control, contact a member of teaching staff as soon as possible before the assessment is due.

If your personal circumstances significantly affect your performance, or preparation, for an exam or eligible written test, refer to the University’s aegrotat or compassionate consideration page https://www.auckland.ac.nz/en/students/academic-information/exams-and-final-results/during-exams/aegrotat-and-compassionate-consideration.html.

This should be done as soon as possible and no later than seven days after the affected test or exam date.

Learning Continuity

In the event of an unexpected disruption we undertake to maintain the continuity and standard of teaching and learning in all your courses throughout the year. If there are unexpected disruptions the University has contingency plans to ensure that access to your course continues and your assessment is fair, and not compromised. Some adjustments may need to be made in emergencies. You will be kept fully informed by your course co-ordinator, and if disruption occurs you should refer to the University Website for information about how to proceed.

Student Charter and Responsibilities

The Student Charter assumes and acknowledges that students are active participants in the learning process and that they have responsibilities to the institution and the international community of scholars. The University expects that students will act at all times in a way that demonstrates respect for the rights of other students and staff so that the learning environment is both safe and productive. For further information visit Student Charter https://www.auckland.ac.nz/en/students/forms-policies-and-guidelines/student-policies-and-guidelines/student-charter.html.

Disclaimer

Elements of this outline may be subject to change. The latest information about the course will be available for enrolled students in Canvas.

In this course you may be asked to submit your coursework assessments digitally. The University reserves the right to conduct scheduled tests and examinations for this course online or through the use of computers or other electronic devices. Where tests or examinations are conducted online remote invigilation arrangements may be used. The final decision on the completion mode for a test or examination, and remote invigilation arrangements where applicable, will be advised to students at least 10 days prior to the scheduled date of the assessment, or in the case of an examination when the examination timetable is published.