THE UNIVERSITY OF BRITISH COLUMBIA School of Kinesiology Kin 472: Genetic issues in sports, exercise, and human performance, 2014 Outline and evaluation Instructor: Jim Rupert, Associate Professor, School of Kinesiology, UBC. Email: rupertj@interchange.ubc.ca Level: 4th year Time: 3 hours/week Credits: Pre-requisites completion of Kin core program or permission of the instructor TA: TBA Course description Human variation in physical performance is due to the combined influence of genetic background (‘nature”) and the cultural, social, and physical environment (“nurture”) in which the person develops. The relative contributions of these two fundamental arbiters of development vary greatly, ranging from the devastating impact of genetic disease to the subtle biological variations that may influence attitude, behavior, and “talent”. In this course, students will be introduced to the basic concepts of biological inheritance and innate human variation, with an emphasis on the current understanding of the role of genetic variants in determining human physical performance. This will provide the background for discussions of the various social, cultural and ethical issues associated with the perception of genetically-determined “talent” as well as the application of genetics to athlete recruitment, training, and performance enhancement – so called “gene doping”. Genetics can also be used to define and categorize individuals and the genetic basis for sexual differentiation will be covered as a prelude to a description of the history of ‘gender verification’, in which chromosomes and genes were used to assign a sex to athletes. Course text and materials No text book. The course will be based on on-line materials, scientific research papers and review articles, and newspaper or magazine articles. Students will be expected to locate and download copies of the required readings from on-line databases such as PubMed. Topics covered: content and learning objectives 1) Basic genetics: nature, nurture, and the nature of nurture Science: DNA, genes, chromosomes, genetics as an information system, population genetics, genetic variation in humans, selection Issues: Nature vs. nurture, “innate talent”, stereotyping, human variation, applications of genetic technology Learning objectives: students will learn the basics of human genetics and the underlying molecular biology. The focus will be on natural human variation and if and/or how these variations might manifest as contributors to human performance. Students will be expected to understand the topic to the point where they can read papers in the scientific literature and critically evaluate stories in the popular media. 2) Research ethics: applied ethics in clinical and non-clinical genetic research Science: Special ethical issues presented by genetic research. Issues: Privacy, stereotyping, autonomy, informed consent, ‘biobanking’ Version 1.0 Page 1 of 4 2/4/2014 THE UNIVERSITY OF BRITISH COLUMBIA School of Kinesiology Learning objectives: students will develop an appreciation for the issues central to ethical scientific research involving human subjects (such as beneficence, autonomy, consent) with an emphasis of the issues relevant to genetics (such as biobanking, privacy, extrapolating from individuals to groups, interpretation of results and counseling, data storage and access) 3) Genetic testing of athletes: should DNA determine who gets to play? Science: Commercial DNA tests, genetics of medical risk in athletes Issues: Autonomy, data overload and interpreting the results, the validity and informativeness of the tests Learning objectives: students will be integrating the previous two sections and applying the principles they have learned to the application genetic testing in athletes. 4) Sex and gender: male, female, none of the above, all of the above Science: Genetic determinants of sex Issues: The history and biology of sex testing of athletes Learning objectives: student will learn the basic genetic, hormonal and anatomical processes through which human sexual differentiation occurs and the consequences of deviations from these pathways (such as gonadal dysgenesis and intersex individuals). This will provide the background to understand history and biology underlying various methods of “sex-testing” in athletes and the controversy surrounding such tests. 5) Genetic manipulation: genetically modified athletes - legitimate therapy vs. “gene doping” Science: Gene therapy Issues: Applying advances in genetic medicine to athletes and the illicit use of these technologies “gene doping” Learning objectives: Students will learn the basics of gene therapy – how and why genetic manipulation can be used therapeutically, and how and why the same technology could be used by athletes to enhance their performance, either by licit medical means or illicit “gene doping”. 6) Genetic essentialism: nature, nurture, and the nature of nurture Science: Nurture and nature, gene: environment interactions, genetics of obesity Issues: Attitudes towards innate vs. acquired traits, predeterminism and free will Learning objectives: Understanding how people’s attitudes towards genetics can affect their view of other people as well as to their own future. 7) “Gifted populations”: do they exist, and if so, why Science: Can genetics account for the dominance of some populations in sports? Issues: ‘Profiling’ and stereotyping Learning objectives: Applying much of the core material to specific populations. Marks and Assignments Assignment Gene paper TCPS assignment Midterm Gene presentations Required reading quizzes Final exam TOTAL Value 15% - group paper 5% - certificate and discussion 20% (Genetics and sex differentiation) 10% - group work 10% short answer, in class quiz 40% (covers all material covered in course) 100% When TBA TBA in class To be assigned Unannounced, in class or tutorials TBA: Assigned by UBC GENE PRESENTATIONS: GENETICS AND PERFORMANCE (PAPER -10%; PRESENTATION -10%) Presentation (10%): Each group is to give a presentation on their gene and assigned paper. The presentation should describe the gene (including location and structure), explain why the gene was considered a candidate for a sports performance study, and summarize the assigned paper AND a second paper about the SAME gene that is relevant to the course (i.e. the phenotype relates sports performance, fitness, relevant anatomy etc). The group Version 1.0 Page 2 of 4 2/4/2014 THE UNIVERSITY OF BRITISH COLUMBIA School of Kinesiology is responsible for locating the second paper but the paper needs to be vetted by the prof or the TA to ensure that it is appropriate for the course. Everyone in the group gets the same mark – the group is responsible for assigning duties. Paper (10%): Each group submits a 3 - 4 page summary of their assigned paper, the paper they found and their presentation material. The paper will be due two weeks after the group presents. TCPS ASSIGNMENT: Research ethics, the TCPS, and genetics (5%) Each person must complete the TriCouncil Policy Statement (TCPS) on-line tutorial and submit a copy of the certificate to the TA. In addition to reading the required sections of the “Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans” for the on-line tutorial, students are expected to read and be prepared to discuss chapter 13 (‘Human Genetic Research’), especially how the issues pertain to research into athletics and physical performance. A PDF of the Ethical Conduct for Research Involving Humans is available at: http://www.pre.ethics.gc.ca/eng/policy-politique/initiatives/tcps2-eptc2/Default/ The URL for the TCPS tutorial is: http://www.pre.ethics.gc.ca/english/tutorial/ REQUIRED READING QUIZZES Quizzes (15%): There will be four unannounced quizzes on the required-reading papers to test that you obtained and read the paper. You should be able to answer the questions even if you did not fully understand the paper. Each quiz is worth 5 marks and the best three will count toward your final mark (for a maximum of 15%). This allows you to miss one quiz without penalty – if you miss more than one, you forfeit those marks. EXAMS Midterm exam (15%): To be held in class. The midterm exam will cover all of the terms covered in the ‘genetics’ and ‘sex differentiation’ vocabulary sheets. Format will be short answer (one or two sentences). Final exam (25%): To be held in the official exam period (time and place TBA). The final exam will cover all of the material covered in the course and may include questions from any of the required readings. Format will be short answer (one or two sentences), medium answer (up to ½ page) and short essay (1 – 2 pages). FINAL PAPER Final Paper (20%): Each person is to hand in a 5 - 6 page paper on one of three assigned topics. The paper is due by Monday, April 16, 2011. General rules for papers in Kin 472: Page length refers to the actual text of the paper - extra pages can be added for title page, references, figures and tables. Format is 12pt font, 2.54 cm (1 inch) borders, 1 ½ spacing. The cover page should include title, course (kin 472, 2011) author (all authors if a group paper), the date of submission, and total number of pages. Each page should have a header with a running title and a footer with the page number. ALL papers should be submitted to the TA(s) via E-mail and cc’ed to Dr. Rupert. The date that the E-mail is sent will be considered the submission date (so the paper can be sent at 11:59.59 PM and still be considered submitted ‘that day’ even if not received by the TA until the following day). Late papers will be docked 5% per day (e.g. an on time paper that gets 85% would get 80% if a day late, 75% if 2 days late etc). The TA and/or Dr. Rupert will send an E-mail acknowledging receipt of your paper (if you don’t receive such an E-mail, send a reminder). All papers should be fully referenced. Any reference style will be accepted (as long as it includes at least the first author, the title, the journal name, year, volume and page). URLs and date accessed are acceptable for on-line references. Sources such as Wikipedia are acceptable as a reference for general knowledge but whenever possible, primary sources (i.e. research papers) should be referenced. Lectures and notes from this (and other courses) are not acceptable references. Version 1.0 Page 3 of 4 2/4/2014 THE UNIVERSITY OF BRITISH COLUMBIA School of Kinesiology BE CAREFUL CUTTING AND PASTING. YOU WILL BE PENALIZED FOR PLAGIARISM EVEN IF YOUR INTENT WAS TO EDIT THE PASTED MATERIAL INTO YOUR OWN WORDS AND YOU FORGOT (OR DID SO INSUFFICIENTLY TO ‘MAKE THE MATERIAL YOUR OWN’). ***INTELLECTUAL LAZINESS LOOKS A LOT LIKE INTELLECTUALLY DISHONESTY*** Version 1.0 Page 4 of 4 2/4/2014