Human Genetics subject outline 2022 PDF

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Human Genetics and Precision Medicine Subject outline...

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SUBJECT OUTLINE 91148 Human Genetics and Precision Medicine Course area

UTS: Science

Delivery

Jan-Mar 2022; block mode; City

Credit points 6cp Requisite(s)

91161 Cell Biology and Genetics

Result type

Grade and marks

Attendance: 2hpw lecture, 4 x 2hrs workshops, 2 practical classes

Subject coordinator Dr Alen Faiz [email protected]

Teaching staff Alen Faiz, PhD

Subject 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.

Subject learning objectives (SLOs) Upon successful completion of this subject students should be able to: 1. Describe and apply both the principles of Mendelian genetics and the molecular basis of genetics to demonstrate understanding of inheritance, and how whole populations are altered through the process of evolution. 2. Comprehend the broad applications of genetics within biology, biotechnology and medicine, the technologies currently being used in these fields, and the ways in which precision medicine can tailor an individual’s diagnosis and treatment to their unique genomic content. 3. Analyse, interpret and explain genetic information. 4. Demonstrate practical skills and learn laboratory techniques currently used in the field of genetics and precision medicine. 5. Effectively communicate experimental, interpretative and ethical aspects of science via oral presentations and written work. 6. Work collaboratively as an effective member of a team.

Course intended learning outcomes (CILOs) This subject also contributes specifically to the development of following course intended learning outcomes: Apply: Identify how disease can arise and disrupt normal physiological function. (1.1) Analyse: Select and appraise the technology and tools to detect and diagnose diseases. (1.2) Synthesise: Combine the principles of precision medicine and human genetics to solving problems and analysing

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case studies in the medical field. (1.3) Apply: Demonstrate experimental design and sampling to design appropriate studies to test hypotheses addressing medical science investigations. (2.1) Analyse: Examine and use appropriate scientific tools in the design and execution of medical science research. (2.2) Analyse: Demonstrate ethical practice in medical science sector. (3.2) Synthesise: Work responsibly, safely, and with respect to diversity, within ethical, academic, and regulatory frameworks relevant to medical science. (3.3) Analyse: Evaluate and critically appraise current evidence-based literature to determine best practices, and gaps in medical research and knowledge. (4.2) Synthesise: Work creatively to translate the results of medical research to improve the clinical care of patients and/or the mechanisms of disease. (4.3) Analyse: Establish high-quality writing and oral skills to effectively communicate reports and other relevant ideas to a range of audiences. (5.2) Synthesise: Practice the requirements for presentation of research data through preparation of oral and written works. (5.3)

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 a. You will develop competency in current genetic technologies/techniques and data analysis. b. You will refine your time management skills required for scientific based practice and professional work. This will be developed via practical and workshop sessions. c. 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: 13/12/2021 (Jan-Mar 2022)

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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.

Program Week/Session

Dates

Description

Week 1

27 Dec

Introduction video to Subject

Week 2

3 Jan

Online Lectures 4/1 9:00-11:00 DNA, Genes, Chromosomes, Cell cycle, Mitosis and Meiosis & Introduction to Heredity and Extending Mendelian Genetics. 6/1 9:00-11:00 Chromosomal Basis of Inheritance - Linkage & Variations in the genome (SNPs, RFLPs).

Week 3

10 Jan

Online Lectures 11/1 9:00-11:00 Bioinformatics 13/1 9:00-11:00 Pedigree analysis and Punnett square analysis with tutorial

Week 4

17 Jan

Online Lecture 18/1 9:00-11:00 Genetic Counsellor Presentation 20/1 9:00-11:00 Genetic Manipulation and Gene Therapy Workshop

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20/1 13:00-16:00 Workshop 1 Basic DNA and Genetics Workshop

Week 5

24 Jan

Online Lecture 25/1 9:00-11:00 CRISPR 27/1 9:00-11:00 Cystic fibrosis and drug discovery Workshop 27/01 13:00-16:00 Workshop 2 Understanding genetic data Workshop

Week 6

31 Jan

Online Lecture 1/2 9:00-11:00Augmented protein therapy and Nonsense readthrough therapy 3/2 9:00-11:00 Intro to Precision Medicine & The promise of precision medicine: Future directions and challenges Practical Class 2/2 10:00-13:00 OR6A2 SNPs – coriander tastes like soap test? DNA extraction and SNP test Workshop 3/2 13:00-16:00 Workshop 3 Bioinformatics Workshop

Week 7

7 Feb

Online Lecture 8/2 9:00-11:00 Epigenetics 10/2 9:00-11:00 Intro to Precision Medicine & The promise of precision medicine: Future directions and challenges Practical Class 9/2 10:00-13:00 Chromosome Staining Workshop 10/2 13:00-16:00 Workshop 4 Epigenetics and P-value Workshop

Assessment Assessment task 1: Multiple Choice Quiz 1 Intent:

This assessment task contributes to the development of the following graduate attributes: 1. Disciplinary knowledge 2. Research, inquiry, and critical thinking

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Objective(s): This assessment task addresses subject learning objective(s): 1 and 2 This assessment task contributes to the development of course intended learning outcome(s): 1.1, 1.2 and 1.3 Type:

Quiz/test

Groupwork:

Individual

Weight:

20%

Task:

In this task you answer 20 multiple choice questions. Online quiz will be completed within a specific time frame, after which general feedback will be provided.

Due:

5.00pm Friday 21 January 2022 Opens 9am 20/1/22 closes 5pm 21/01/22

Criteria:

You will be assessed on your disciplinary knowledge based on the correct answers to the questions. Your inquiry and critical thinking will be assessed through your analysis, interpretation and critical evaluation of the presented data.

Assessment task 2: Final Exam MCQ Intent:

This assessment task contributes to the development of the following graduate attributes: 1. Disciplinary knowledge 2. Research, inquiry, and critical thinking

Objective(s): This assessment task addresses subject learning objective(s): 1, 2 and 3 This assessment task contributes to the development of course intended learning outcome(s): 1.1, 1.2 and 1.3 Type:

Examination

Groupwork:

Individual

Weight:

40%

Task:

In this task you will answer 60 questions both multiple choice and short answer. This will be an open book exam. Further details will be provided at the beginning of the session.

Length:

2 hours

Due:

Week to Week To Be Announced

Criteria:

You will be assessed on your disciplinary knowledge based on the correct answers to the questions. Your inquiry and critical thinking will be assessed through your analysis, interpretation and critical evaluation of the presented data.

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Assessment task 3: Submission of Laboratory Report Intent:

This assessment task contributes to the development of the following graduate attributes: 1. Disciplinary knowledge 2. Research inquiry and critical thinking 3. Professional, ethical and social responsibility 4. Reflection, Innovation, Creativity 5. Communication

Objective(s): This assessment task addresses subject learning objective(s): 2, 3, 5 and 6 This assessment task contributes to the development of course intended learning outcome(s): 1.1, 1.2, 1.3, 2.1, 2.2, 3.2, 3.3, 4.2, 4.3, 5.2 and 5.3 Type:

Report

Groupwork: Individual Weight:

40%

Task:

You will provide a detailed record of the practical laboratory experiment “OR6A2 SNPs – coriander tastes like soap test? DNA extraction and SNP test” performed during class, the data created, analysis of the data, and reflections on the experience.

Due:

5.00pm Wednesday 16 February 2022

Criteria:

Your communication skills will be assessed on the quality of the record of your experimental procedures (clarity of procedure and understanding). Your disciplinary knowledge will be assessed based on the structure and accuracy of the data presented, and your research, inquiry and critical thinking will be assessed based on the quality of the analysis, the understanding of the studied phenomenon and the conclusions drawn from the experiment. Your reflection, innovation and creativity will be assessed based on your observations of the experimental process and your reflections on the experience and how you could improve the experiment. You will be asked to reflect upon the social and ethical aspect of the task as well, especially to discuss the implications of genetic variations in population based studies.

Further A grading rubric will be made available in the subject manual which can be accessed on UTSOnline information: and will be provided at the beginning of the session.

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

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textbooks, subject readings, old exam papers, academic writing guides, scientific literature databases, workshops, a gaming room and bookable group study rooms. There is also a team of librarians to help you with all your questions. w: lib.uts.edu.au facebook: utslibrary twitter: @utslibrary ph: 9514 3666 Mathematics & Science Study Centre The Mathematics and Science Study Centre (MSSC) operates a Drop-in Room located on UTS City Campus, in Building 4, level 3, room 331 (CB04.03.331). Academic staff members are available for one-to-one assistance. For timetabling and other MSSC resources see: w:https://tinyurl.com/UTS-maths-study-centre

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