91822 Human Genetics and Precision Medicine

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Subject handbook information prior to 2024 is available in the Archives.

Description

The transmission of traits from one generation to the next (heredity) underpins all biological fields including molecular biology, physiology, and evolutionary biology. Developments in the field of genetics and genomics (the study of heredity and hereditary variation) are revolutionising medicine. They also raise many ethical questions regarding our recent ability to manipulate DNA, the genetic material.

This subject provides students with an introduction to human genetics from the research laboratory to the clinic, including the way in which an individual's genetic information can be in the field of precision medicine. The content includes the basic tenets of Mendelian and molecular genetics, the technologies and applications of molecular diagnostics and gene therapy, and both the practical and ethical consequences of precision medicine.

Contribution to the development of graduate attributes

1. Disciplinary Knowledge

You will learn the fundamental theories and mechanisms underpinning human genetics and the current technologies and applications of precision medicine.

2. Research, inquiry and critical thinking

You will apply your knowledge of the models of inheritance, and use critical thinking to interpret and analyse complex genetic problems. You will apply critical and independent thinking to generate and interpret experimental data. You will have the opportunity to research, collate and present a report based on class data that will let you explore the basic tenets of human precision medicine.

3. Professional, ethical and social responsibility

1. You will develop competency in current genetic technologies/techniques and data analysis.
2. You will refine your time management skills required for scientific based practice and professional work. This will be developed via practical and workshop sessions.
3. You will investigate the ethical and social consequences of the current availability of personal genetic information and/or discuss the current and potential inequalities raised by precision medicine.

4. Reflection, Innovation, Creativity

You will have the opportunity to reflect upon a number of social and ethical responsibilities that are generated from the rush to use genetic information in healthcare settings.

5. Communication

You will develop communication skills in professional scientific presentation in the form of a written laboratory report.

Teaching and learning strategies

In Human Genetics and Precision Medicine you will have the opportunity to learn via lectures, workshops and laboratory practicals. There will be material available for you to view/read prior to the topic being introduced in class either via short presentations, workshops or practical classes. For this subject you will have 24 hours of lectures/workshops and 12 hours of practical classes. In these classes you will be exposed to a variety of learning strategies which can be complemented by your own independent study, to help you maximise your learning potential in this subject. During the workshops you will receive in-class feedback from your educators and peers on your understanding and ability to apply your knowledge in solving genetic problems. Students will receive feedback on all assessment tasks.

Lectures and workshops:

Learning materials to introduce you to the key concepts in the field of human genetics and precision medicine will be made available to you on Canvas, prior to these topics being further explored in class via lectures and workshops. Some topics will involve pre-class preparation by you, for discussion during class. This work will be made clear to you via Canvas. The workshops help you to consolidate and understand the new concepts discussed in class as you will, working in small groups, apply this knowledge by solving genetic problems.

Laboratory Practicals:

You will generally work in pairs to perform laboratory experiments focussed on generating and analysing genetic data for the diagnosis of variations or disease states, providing you with hands on experience of the currently used technologies in the field. The laboratory practicals will extend and compliment the topics covered by the lectures and help you to understand and apply your learning. You will keep detailed lab notes about your practical classes where you will document the rationale for the experiment, the methodologies used, the results produced, your analysis of the results and your conclusions of the experiment. From the lab notes you write an individual laboratory report that will be individually marked (Assessment Task 3) and you will receive feedback on your work.

Content (topics)

Topics will cover:

1. Basic human genetics, from Mendelian genetics through to the latest in genetic sequencing and bioinformatics to study gene-linked human disease.

2. Understand the role that human genetics plays in the application of precision medicine and identify the challenges that face the intergration of human genetics in the medical field.

3. The use of human genetics in the treatment of cancer, in the development of gene therapies and in development of novel targeted protein therapies.

4. The impact of human genetics through the prism of genetic couselling.

Assessment

Assessment task 1: Multiple Choice Quiz 1

Assessment task 2: Final Exam MCQ

Assessment task 3: Submission of Laboratory Report

Minimum requirements

You must achieve greater than 50% in the overall subject and complete all three assessment tasks.