Research
Projects

Project 1:
Identification of disease genes - using three strategies: positional cloning, analysis of candidate genes, and identification of disease-susceptibility genes in model systems. Colorectal cancer, Alzheimer's disease, Tourette syndrome, developmental disease genes, heart diseases, retinal diseases, infectious diseases.

Project 2:
Genes and phenotypes - investigating genetic diseases of known cause via in-depth analysis of genotype-phenotype relationships. GM2, lactic acidemias, lipoprotein lipase, hypophosphatasia and glutaric acidemia, Wilson disease, malignant hyperthermia , retinoblastoma, cystic fibrosis and Fanconi anemia.

Project 3:
Dynamic mutations - are novel cause for human genetic disease and appear to provide a molecular basis for complex, single gene disorders with variable expression and phenotype and increasing severity in successive generations. Myotonic dystrophy, Huntington disease, fragile X syndrome, spinobulbar muscular atrophy and spinocerebellar ataxia.

Project Team :
Michael Hayden (Leader)
Robert Korneluk
Alex Mackenzie
Ken Morgan
Guy Rouleau
Fran�ois Rousseau
Joh-E Ikeda

Project 4:
Genetic analysis of complex traits - using mouse models of human diseases. The approach is to first map genes underlying defined traits of the mouse response to environmental stimuli, and then to use the information about homology of chromosomal regions between mouse and humans to study the relevant human genes e.g. for resistance to infectious disease.

Project Team :
Emil Skamene (Leader)
Philippe Gros
Grant Mitchell
Ken Morgan
Lap-Chee Tsui

Project 5:
Genetic epidemiology and population genetics - the study of subgroups of individuals who, because of their genotype, are more susceptible (or resistant) to developing disease. Foci are common complex disorders of childhood, non-insulin dependent diabetes mellitus, TB & leprosy, breast and ovarian cancer, phenylketone urea, hypercholesterolemia, hereditary diseases in Newfoundland, informatics.

Project Team :
Charles Scriver (Leader)
Leigh Field
Jane Green
Cheryl Greenberg
Michael Hayden
Ken Morgan
Steven Narod

Project 6:
Therapeutic intervention for genetic disease - new therapeutic strategies for genetic disease, including pharmacological and enzymatic intervention as well as gene therapy for hereditary tyrosinemia type 1, phenylketone urea, Huntington disease, Duchenne muscular dystrophy, cystic fibrosis, thalassemia, retinoblastoma.

Project 7:
Application of molecular genetics to health care - new technology to identify mutations in affected individuals, and improve existing technologies to test for known mutations. Work with both families with unique mutations and screen populations for common mutations in retinoblastoma, malignant hyperthermia and central core disease, Duchenne muscular dystrophy, breast and ovarian cancer, osteoporosis.