University of Alberta GENETICS 418- HUMAN GENETICS Winter Term, 2011, Mon, Wed, Fri, 1:00-1:50, M145 Instructor

: Dr. Heather McDermid, Room BS-G508, 492-5377, hmcdermi@ualberta.ca. Please email for an appointment. Recommended Text : NONE. Readings will be linked on the website. Course Website: http://www.biology.ualberta.ca/people/heather_mcdermid/genet418/ Seminars : Wed, 10:00 - 10:50, M 141 Biological Sciences Building Teaching Assistant : Renee Leduc, Office: CW501, 492-4379 rleduc@ualberta.ca Please email for an appointment. Course Objectives: 1. To tie together genetics concepts into an understanding of our own species. 2. To prepare you for the impact of genetics on your lives and on society. Tentative Schedule of Lectures: (Readings will be given on the website) Jan 10 Introduction, genome organization review, polymorphism Jan 12 Human embryology basics Jan 14, 17 Hemoglobinopathies, model human genetic disease Jan 19, 21, 24 Modes of Inheritance: Recessive, Dominance, Pharmacogenetics Jan 26, 28, 31 Special inheritance: Expansion of trinucleotide repeats Feb 2, 4 Genetic counseling and screening Feb 7, 9, 11, 14 Cytogenetics and chromosomal abnormalities Wed. Feb 16 MIDTERM Feb 18 Chromosomal abnormalities, continued Feb 21-25 Reading Week Feb 28, Mar 2 Population genetics Mar 4, 7 Genomic imprinting Mar 9, 11 Cancer genetics Mar 14 Disease Duchenne Muscular Dystropy Mar 16 Dr. Sarah Hughes (Dept Medical Genetics) - Drosophila as a genetic model for Neurofibromatosis Type 2 Mar 18 Dr. Dawna Gilchrist (Dept Medical Genetics) Hereditary cancer syndromes Mar 21, 23 Disease mapping - Linkage

Mar 25, 28 Mar 30, Apr 1, 4 Apr 6, 8 Apr 11, 13

Disease mapping - Examples Multifactorial inheritance Gene therapy Ethical issues: Discussion, wrap-up

Seminars: (note: in some cases the seminars and regular lectures are switched) Jan 12 no seminar Jan 19 Forensic use of DNA profiling Dr. Rick Jobin, Fish and Wildlife Forensics Jan 26 Living with phenylketonuria Ms. Marie Tol Feb 2 Huntington disease predictive testing Dr. Stephen Bamforth, Dept of Medical Genetics Feb 9 Genetic counselling TBA, Dept of Medical Genetics Feb 16 The molecular diagnostic laboratory TBA, Dept of Medical Genetics Mar 2 Conditional probability, populations Problem set #1 Mar 9 Imprinting: Prader-Willi syndrome Dr. Rachel Wevrick, Dept of Medical Genetics Mar 16 Bench to bedside in ocular genetics Dr. Ordan Lehmann, Dept of Medical Genetics Mar 23 Linkage Problem set #2 Mar 30 Regulation of Skeletal Growth and Development Dr. Fred Berry, Dept Medical Genetics Apr 6 Mitochondrial diseases Dr. Moira Glerum, Dept Cell Biology Apr 13 Genetics, Ethics and the Law TBA Grading Late assignments: 5% of total mark deducted per day (weekends count) Written assignment Assigned Fri Jan 14 Due Fri Jan 28, 1:00 PM Problem Sets (2) #1 due Wed. Mar 9, 1:00 PM #2 due Wed Mar 30, 1:00 PM Midterm Creative Essay Wed. Feb 16, 50 min 2 copies due Wed. Apr 6, 1:00 10%

10%

25% 15% 40%

Final Exam, 3 hours - tentatively scheduled for Wednesday, April 27th, 2:00-5:00 PM

- Students must verify this date on BearTracks where the Final Exam Schedule is posted: http://www.registrar.ualberta.ca/ro.cfm?id=519 Final grade boundaries are guided by the recommended University of Alberta grade distribution for 4th year, followed by adjustments to reflect natural breaks within the distribution. For a pdf on plagiarism, see: http://www.science.ualberta.ca/pdfs/UnderstandingPlagiarism.pdf. Representative Evaluative Material A past midterm will be posted on the website. *************************************************************************** Missed Midterm: A student who cannot write the midterm examination because of an incapacitating illness, severe domestic affliction or other compelling reasons can apply for an Excused Absence in writing from the instructor within 48 h of the missed exam. An excused absence will result in the weight of the midterm being transferred to the final. Prearranged holiday travel plans are NOT considered a valid excuse for missing the midterm exam. THERE WILL BE NO DEFERRED MIDTERM. Missed Assignments: A student who cannot complete an assignment because of an incapacitating illness, severe domestic affliction or other compelling reasons can apply for an extension in writing from the instructor within 48 h of the deadline. Altenratively, the weight of the missed assignment could be transferred to the final, at the instructors discretion. Assignments without an approved extension will incur a penalty of 5% of total mark deducted per day (weekends count). Misrepresentation of Facts to gain a deferral is a serious breach of the Code of Student Behaviour. Deferred Final Examination: A student who cannot write the final examination because of an incapacitating illness or is suffering from severe domestic affliction or other compelling reasons can apply for a deferred final examination. . Such an application must be made to the students Faculty office within 48 hours of the missed examination and must be supported by a Statutory Declaration (in lieu of a medical statement form) or other appropriate documentation (Calendar section 23.5.6). Deferred examinations are a privilege and not a right; there is no guarantee that a deferred examination will be granted. Misrepresentation of Facts to gain a deferred examination is a serious breach of the Code of Student Behaviour. Reexamination:

A student who writes the final examination and fails the course may apply for a reexamination. Reexaminations are rarely granted in the Faculty of Science. These exams are governed by University (Calendar section 23.5.5) and Faculty of Science Regulations (Calendar section 182.5.9). Misrepresentation of Facts to gain a reexamination is a serious breach of the Code of Student Behaviour. *************************************************************************** STUDENTS WITH DISABILITIES: Students who require accommodation in this course due to a disability are advised to discuss their needs with Specialized Support & Disability Services (2-800 Students Union Building). ACADEMIC SUPPORT CENTRE: Students who require additional help in developing strategies for better time management, study skills or examination skills should contact the Academic Support Centre (2-703 Students Union Building). *************************************************************************** Student Responsibilities: ACADEMIC INTEGRITY: The University of Alberta is committed to the highest standards of academic integrity and honesty. Students are expected to be familiar with these standards regarding academic honesty and to uphold the policies of the University in this respect. Students are particularly urged to familiarize themselves with the provisions of the Code of Student Behaviour (online at www.ualberta.ca/secretariat/appeals.htm) and avoid any behaviour which could potentially result in suspicions of cheating, plagiarism, misrepresentation of facts and/or participation in an offence. Academic dishonesty is a serious offence and can result in suspension or expulsion from the University. All forms of dishonesty are unacceptable at the University. Any offense will be reported to the Senior Associate Dean of Science who will determine the disciplinary action to be taken. Cheating, plagiarism and misrepresentation of facts are serious offenses. Anyone who engages in these practices will receive at minimum a grade of zero for the exam or paper in question and no opportunity will be given to replace the grade or redistribute the weights. . As well, in the Faculty of Science the sanction for cheating on any examination will include a disciplinary failing grade (no exceptions) and senior students should expect a period of suspension or expulsion from the University of Alberta. "Policy about course outlines can be found in 23.4(2) of the University Calendar." CELL PHONES: Cell phones are to be turned off during lectures, labs and seminars. Cell phones are not to be brought to exams Note: Recording will only be permitted if it is part of an approved accommodation plan. Disclaimer: Any typographical errors in this Course Outline are subject to change and will be announced in class. The date of the final examination is set by the Registrar and takes precedence over the final examination date reported in this syllabus.

Copyright: Dr. Heather McDermid, Department of Biological Sciences, Faculty of Science, University of Alberta (2010)