Course:MEDG550/Syllabus

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Department of Medical Genetics M.Sc. Genetic Counselling Program Course Outline: MEDG 550 2012/2013

Coordinator: Jenna Scott

The course will be graded as follows for a total of 100%

Term 1 Exam - 35%
Term 1 Constructive class participation - 5%
Term 1 Student presentation – 10%
Term 2 Exam - 35%
Term 2 Student presentation - 10%
Term 2 Constructive class participation - 5%


Classes will be held in Rm. C240 in the Department of Medical Genetics in BC Children’s Hospital. All students are expected to attend all classes without exception. Invited speakers from the Department of Medical Genetics, as well as from outside of the Department, will present the course material in a didactic format. Student interaction is nevertheless critical and will constitute 10% of the final grade. The course will focus on topics relevant to the clinical practice of genetic counselling, eg. risk calculation, prenatal diagnosis, genetic screening, etc. Each student is responsible for two presentations during the course. Topics will be assigned at random. Constructive feedback on the presentations will be given to the student by the Program Co-Directors.


Recommended Texts
Thompson & Thompson Genetics in Medicine
Medical Genetics by Jorde et al.


Class Schedule: Mondays 9:30 - 11:30 and Fridays 10:00 – 12:00


F. September 7 Introduction/Course Review J. Scott

M. September 10 Inheritance Patterns J. Hurlburt

F. September 14 Constructing a Pedigree J. Scott

M. September 17 Mendelian Risk Calculations A. Swenerton

F. September 21 Normal Pregnancy Dr M Delisle

M. September 24 Bayesian Calculation C. Chijiwa

F. September 28 Physiology of Human Reproduction Students

M. October 1 Pregnancy Complications Dr M. Delisle

F. October 5 Teratogens J. Thompson

M. October 8 Cancelled – Thanksgiving

F. October 12 Prenatal Procedures A. Inglis

M. October 15 Prenatal Genetic Screening T. Romaniuk

F. October 19 Prenatal Genetic Screening T. Romaniuk

M. October 22 Assisted Reproductive Technologies Dr. J. Hitkari

F. October 26 Ultrasound D. Pugash

M. October 29 Prenatal Cases P. Power

F. November 2 Genetic Terminations K. Meagher

M. November 5 Multifactorial Disorders/MS K. Bartels

F. November 9 Student Presentations #1 Students

M. November 12 Cancelled – Remembrance Day

F. November 16 Student Presentations #1 Students

M. November 19 Newborn/Population Screening K. Sangha

F. November 23 Normal Infant Development P. Mortenson

M. November 26 Prenatal Ultrasound – Practical Approach G. Hulait

F. November 30 Cytogenetics E. Alexander

F. November 30 Atypical Development P. Mortenson

M. December 3 Cytogenetics E. Alexander


F December 7 Mid - Term Exam 9:00 – 12:00


F. January 4 Consanguinity - CANCELLED S. Creighton

M. January 7 Hemoglobinopathies A. Dircks

F. January 11 Dysmorphology/Syndromology C. du Souich

M. January 14 Dysmorphology/Syndromology C. du Souich

F. January 18 Psychiatric Genetics Dr. J. Austin

M. January 21 Imprinting Disorders J. Thompson

F. January 25 Connective Tissue Disorders K. Meagher

M. January 28 Cardiac Genetics K. Godwin

F. February 1 Alzheimers Disease/Genetics of Dementia E. Dwosh

M. February 4 Coagulation Disorders H. Heran

F. February 8 Consanguinity S. Creighton

M. February 11 Cancelled – Family Day

F. February 15 FGFR disorders A. Swenerton

M. February 18 Midterm Break

F. February 22 Midterm Break

F. March 1 Neurogenetics C. Guimond

M. March 4 Trinucleotide Repeat Disorders Dr. P. Goldberg

F. March 8 Student Presentations #2 All Students

M. March 11 Pain Genetics Dr. P. Goldberg

F. March 15 Cancer Genetics C.Portigal-Todd

F. March 15 Bioinformatics W. Wasserman

M. March 18 Cancer Genetics Carol Cremin

Wed March 20 Predictive/Susceptibility Testing S. Creighton

M. March 25 New Technologies - Clinical Challenges S.Adam

F. March 29 Cancelled – Good Friday

M. April 1 Cancelled – Easter Monday

W. April 3 Sexual Differentiation & Renal Development Dr. B. McGillivray

F. April 5 Student Presentations #2- Wiki Documents All Students


APRIL 19th Final Exam 9:00-12:00