Section 1 - School of Kinesiology

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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’
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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
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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.
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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***
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