Course outline. Code: BIM202 Title: Genes in Health and Disease

Transcription

1 Course outline Code: BIM202 Title: Genes in Health and Disease Faculty of: Science, Health, Education and Engineering Teaching Session: Semester 1 Year: 2015 Course Coordinator: Dr Anna Kuballa Tel: (07) akuballa@usc.edu.au Course Moderator: Dr Ann Parkinson 1. What is this course about? 1.1 Course description Genes in health and disease will provide you with an introduction to the principles and concepts integral to the field of medical genetics, using inquiry based learning in laboratory and tutorial classes. Rapid advancements in technology, including mapping of the human genome, are allowing genetics to play an increasingly important role in medicine. This course uses relevant examples to explain topics such as personalised medicine, the genetics of cancer, epigenetics, genetic immunity, the human microbiome, assisted reproductive technologies, and ethics. 1.2 Course content The topics covered include: Gene inheritance, expression and regulation Epigenetics Heritable diseases Cancer genetics Pharmacogenetics Immunogenetics Ethical issues in genetics Human microbiome Assisted reproductive technology 2. Unit value 12 units Version Semester 1, 2015 Recfind File Number: F21785

2 Page 2 3. How does this course contribute to my learning? The specific learning outcomes that you will achieve by successful completion of this course: Describe and explain the concepts and principles behind the genetic regulation of health and disease and how our understanding of these processes can lead to improved health outcomes for individuals and communities. Collect, accurately record, interpret and draw conclusions from scientific data Describe and critically analyse ethical issues associated with genetic research, counselling and diagnostics. Gather, synthesise and critically evaluate information from a range of sources and communicate this information to a range of audiences using multi-media. You will be assessed on the learning outcome in task/s: Task 1a, 1b, 2 & 3 Task 1a Task 1a & 1b Task 2 Completing these tasks successfully will contribute to you becoming: Knowledgeable. Sustainability-focussed. Empowered. Ethical. Empowered. 4. Am I eligible to enrol in this course? Refer to the Undergraduate Coursework Programs and Awards - Academic Policy for definitions of prerequisites, co-requisites and anti-requisites 4.1 Enrolment restrictions Nil 4.2 Pre-requisites LFS Co-requisites Nil 4.4 Anti-requisites Nil 4.5 Specific assumed prior knowledge and skills (optional) It is recommended that students have some prerequisite knowledge of basic cell biology, and research methods 5. How am I going to be assessed? 5.1 Grading scale Standard High Distinction (HD), Distinction (DN), Credit (CR), Pass (PS), Fail (FL)

3 Page Assessment tasks Task No. (Course Code) Assessment Tasks Individual or Group 1a Tutorial and practical portfolio: 1b Ethical implications in medical genetics: Case studies 2 Genes in health and disease assignment 3 End of Semester Examination Weighting % What is the duration / length? Individual words cumulative When should I submit? Weeks 2-12 Where should I submit it? In class Individual words Week 9 Blackboard Group minute multimedia presentation with running script 1000 words Draft SA Week 11 Final Week 12 Individual 40 2 hours Centrally scheduled exam period 100% Blackboard Examination venue Assessment Task 1a: Tutorial and practical portfolio20% Goal: This is designed to actively engage you in the theoretical and practical components of the role of genes in health and disease in tutorial and laboratory classes. Product: Tutorial and laboratory activities accompanied by a worksheet. Format: From weeks 2-12 you will complete activities during your tutorial & laboratory classes and submit the associated worksheets. You will receive formative and summative feedback on the completion of tasks in tutorial & laboratory classes. Further details available on Blackboard. Criteria You will be assessed on the level of successful completion of the tutorial and laboratory activities based on the submission of worksheets. The best 10 scores will count towards your overall grade. Applying technologies Problem solving Assessment Task 1b: Ethical implications in genetics: Case studies, 15% Goal: This task has been designed to develop your critical thinking about ethical issues associated with medical genetics. This research will inform Task 2 which looks at genes in health and disease concepts. Product: Discussion of ethical issues associated with case studies Format: You will produce a written description of key ethical issues that relate to case studies listed on Blackboard. 500 words (details for this task will be available on Blackboard) Criteria You will be assessed on critical analysis identification of key ethical issues Information literacy Problem solving

4 Page 4 Assessment Task 2: Genes in health and disease assignment, 25% Goal: You will explore and develop an understanding of the concepts associated with genes in health and disease, and will gain skills in group work, reviewing literature and multi-media presentation. Product: A 3-5 minute multi-media presentation accompanied by a written narration ( 1000 words). Format: You will work either as an individual or in a group to produce a 3-5 minute multi-media presentation with a narration. You will submit a draft running script prior to final submission. There are resourses available for you on Blackboard including instructions on how to use imovie/or Movie Maker. Criteria You will be assessed on critical analysis of the topic and synthesis of information, the scientific merit of the factual information presented, communication skills including writing style (grammar, vocabulary, spelling, logical order), creativity, peer review and group work Information literacy Communication Assessment Task 3: End of semester examination, 40% Goal: This task has been designed to assess your understanding of, and ability to apply, theoretical knowledge of the principles behind the genetic regulation of health and disease. Product: Written invigilated examination Format: An individual, closed book, two hour final examination, consisting of multiple choice and short answer. Criteria A demonstration of knowledge, and ability to provide correct answers to on the theoretical content covered in the course. Communication Problem solving 5.3 Additional assessment requirements Blackboard As a student enrolled in this course you will have access to course information on the Blackboard site. You are strongly recommended to log onto the course site on a regular basis. All course announcements, course changes, posting of course materials and grades (via My Interim Results) will be accessed through Blackboard. It is your responsibility to ensure you have adequate internet access (either off campus or oncampus) in order to access Blackboard regularly and to complete required assessment tasks. Safe Assign In order to minimise incidents of plagiarism and collusion, this course may require that some of its assessment tasks are submitted electronically via Safe Assign. This software allows for text comparisons to be made between your submitted assessment item and all other work that Safe Assign has access to. If required, details of how to submit via Safe Assign will be provided on the Blackboard site of the course. Eligibility for Supplementary Assessment Your eligibility for supplementary assessment in a course is dependent of the following conditions applying: a) The final mark is in the percentage range 47% to 49.4% b) The course is graded using the Standard Grading scale c) You have not failed an assessment task in the course due to academic misconduct

5 Page Submission penalties Late submission of assessment tasks will be penalised at the following maximum rate: 5% (of the assessment task s identified value) per day for the first two days from the date identified as the due date for the assessment task. 10% (of the assessment task s identified value) for the third day 20% (of the assessment task s identified value) for the fourth day and subsequent days up to and including seven days from the date identified as the due date for the assessment task. A result of zero is awarded for an assessment task submitted after seven days from the date identified as the due date for the assessment task. Weekdays and weekends are included in the calculation of days late. To request an extension you must contact your course coordinator to negotiate an outcome. 6. How is the course offered? 6.1 Directed study hours Lectures two hours per week Tutorials two hours per fortnight Practicals two hour laboratory classes per fortnight Tutorial and practical classes are delivered on alternating weeks 6.2 Teaching semester/session(s) offered Semester 1 each year 6.3 Course activities Teaching Week What key concepts/content will I learn? 1 Introduction to Genes in Health and Disease: Course overview. The place of genetics in medicine. The Human Genome Project 2 Molecular biology overview: DNA structure and replication, gene expression (RNA), protein synthesis, DNA mutation. 3 Molecular tools for diagnosis and research in medical genetics: Introduction to PCR, QPCR, karyotyping, microarrays, FISH, and next generation sequencing 4 Genetic diseases 3 main categories: Monogenic (single gene), chromosomal and multifactorial What activities will I engage in to learn the concepts/content? Directed Study Activities Independent Study Activities Lecture Lecture & Tutorial 1: Summative Lecture & Practical 1: Summative Lecture & Tutorial 2: Summative 5 No lecture - Good Friday Practical 2: Summative and formative in class practical 6 Biochemical genetics and pharmacogenetics: Personalised medicine how genetic information is used to treat disease Lecture & Tutorial 3: Summative

6 Page 6 7 Genetic counselling, ethical and social issues Lecture & Practical 3: Summative 8 Cancer Genetics Lecture & Tutorial 4: Ethics case studies Summative and formative in class tutorial 9 Immunogenetics: Genetic immunity/resistance, organ transplant & HLA genetics, autoimmune diseases 10 Fertility & Genetics: Assisted reproductive technology Lecture & Practical 4: Summative Lecture & Tutorial 5: Summative 11 Epigenetics: The impact of the environment on our genes. Epigenetic regulation of gene expression (histone modification & DNA methylation). 12 Human microbiome: Health impacts of microbial colonisation Lecture & Practical 5: Summative Lecture & Tutorial 6: Summative 13 Revison lecture Multi-media presentations of medical genetics assignments Please note that the course activities may be subject to variation. Revision 7. What resources do I need to undertake this course? 7.1 Prescribed text(s) Please note that you need to have regular access to the resource(s) listed below: 7.2 Required and recommended readings Recommended readings: - Pritchard, D.J & Korf, B.R (2013). Medical Genetics at a Glance (Third Edition), Wiley-Blackwell. - Cummings, M.R. (2014). Human Heredity: Principles and Issues (Tenth Edition), Cengage Learning. Lists of required and recommended readings may be found for this course on its Blackboard site. These materials/readings will assist you in preparing for tutorials and assignments, and will provide further information regarding particular aspects of your course. 7.3 Specific requirements Laboratory coat, safety glasses, covered shoes and the BIM202 laboratory manual are required for practical classes. 7.4 Risk management Risk assesments have been performed for all laboratory classes, a moderate level of health and safety risk exists which is associated with conducting experiments within a PC1 laboratory.

7 Page 7 8. How can I obtain help with my studies? In the first instance you should contact your tutor, then the Course Coordinator. Student Life and Learning provides additional assistance to all students through Peer Advisors and Academic Skills Advisors. You can drop in or book an appointment. To book: Tel: or studentlifeandlearning@usc.edu.au 9. Links to relevant University policies and procedures For more information on Academic Learning & Teaching categories including: Assessment: Courses and Coursework Programs Review of Assessment and Final Grades Supplementary Assessment Administration of Central Examinations Deferred Examinations Student Academic Misconduct Students with a Disability Faculty specific information General enquiries and student support Faculty Student Support Office Tel: Fax: SHEinfo@usc.edu.au Office Opening Hours 8.30am pm Monday, Wednesday, Thursday, Friday 9.00am pm Tuesday Closed Saturday and Sunday