Seminars >
Journal Club
Distinguished Lecturer Series
SickKids Genetics & Genome Biology Research Seminar
SickKids Genetic Rounds
Useful Links >
University of Toronto
Canadian Institutes of Health Research
Collaborative Program Affiliated Sites
National Council on Ethics on Human Research (NCHER)
National Center for Biotechnology Information




  MSC 2010Y - "Molecular Medicine in Human Genetic Disease"
  Course Directors: Dr. Lucy Osborne    Phone:(416) 946-5804   Email:  
    Dr. Steve Scherer    Phone:(416) 813-7613   Email:  

Students interested in this course should e-mail Dr. Osborne or Dr. Scherer with a summary of their background in molecular biology and genetics.


This course should encourage students to develop an approach to the genetic analysis, investigation and treatment of human disease. It will be a required course for IMS students wishing to graduate from the Molecular Medicine Training Program at the University of Toronto.


Introduction to molecular approaches:  Students will be introduced to useful tools and concepts that enable the study of a wide spectrum of human diseases. These include such topics as: population identification; sample collection; genome scanning with subsequent linkage analysis; mutation detection methods; and the use of animal models.


Specific examples of the genetics of human disease:   In the body of the course, a series of 28 lectures will cover the genetic analysis of specific diseases. Lecturers will be encouraged to discuss: a brief description of the disease they intend to cover (eg: the basic clinical presentation and pathophysiology); the approach to the study of this disease; and the molecular changes that occur. Integration with animal models and the potential for human gene therapy will be encouraged. Each lecture will provide an example of the application of molecular tools to the investigation of a specific human disease. Lecturers will provide weekly reading assignments.


The student will be required to identify a preceptor within the first term of the course to assist in the preparation of a final project proposal that discusses the genetic analysis of a specific human disease (due late April).  Preceptors must be a graduate faculty member with expertise in molecular genetics (not a current thesis supervisor) with peer-reviewed support. Students often choose their preceptors from the course lecturers, but are not restricted to these individuals. The preceptor will assist the student in the analysis of the problem and in the preparation of the proposal.  While the preceptor will act in an advisory capacity, the student must carry out the initial problem identification and the preparation of the proposal.  Considerable latitude will be allowed in the choice of project, preceptor and approach to the disease.


The weekly course lectures will be complemented by the Molecular Medicine Distinguished Lecture series held once a month at The Hospital for Sick Children. Attendance at this lecture series will be mandatory.


Prerequisites/Restrictions:  Students must have satisfied the course coordinators that he/she has a sufficient background in molecular biology and genetics to absorb the course material. This course will initially be restricted to 15 students; preference will be given to IMS students.


Grading:  A letter grade will be assigned.



An examination based on problem solving in human genetics (early December).



Two-page proposal (due mid February) outlining the problem the student has chosen, with a hypothesis and outline of the final project proposal.


The final drop date for the course is after the marks for the first two assignments have been returned to the student



Final project proposal (due mid April) that discusses the genetic analysis of a specific human disease. The proposal may cover a gamut of topics (i.e. gene hunting, genetic epidemiology or the development of novel diagnostic methods). The final submission will follow CIHR guidelines and comprise a full length scientific application. Assessment of the proposals will be carried out by the course directors.


2006/2007 Lectures

Course overview Lucy Osborne/Steve Scherer
Methods in Quantitative Genetics Andrew Paterson
Human Genome Project Steve Scherer
Genome Instability I (Triplet repeats) John Vincent
Chromosome Aberrations in Cancer Mary Shago
Epigenetics in Genetic Disease Arturas Petronis
Genomic Disorders Lucy Osborne
Hereditary Motor Neuropathies Christian Windpassinger
Genetics of Childhood Cancer David Malkin
Structural Variation of the Human Genome

Lars Feuk

Microarray Applications in Molecular Medicine Chao Lu
Genome Instability II

Stephen Meyn

Developmental Genetics

Ben Alman

Animal models I (Gene Therapy) Andre Schuh
Animal models II (Genetic Engineering) Andras Nagy
The Molecular Basis of Multifactorial Disease I (Diabetes) Andrew Boright
Mitochondrial Disorders

Brian Robinson

Gene-Nutrient Interactions


The Molecular Basis of Multifactorial Disease II (Cardiovascular) Dominic Ng
Infectious Diseases Ian Crandall
Gene Therapy   Jeff Medin
Genetic Counselling Cheryl Shuman


  • Other Course offerings

      Course ID Description Instructor(s)  
      MSC2020H Diagnostic & Therapeutic Strategies in Genomic Medicine Dr. Steve Meyn  

  Feedback I Contact Us I © Copyright 2006-2007 University of Toronto