Peter Roughley, Ph.D.
Shriners Hospital for Children
1529 Cedar Avenue
H3G 1A6, Canada
Tel: 1-514-282-7156 (office)
Principal investigator in the Genetics Unit at the Shriners Hospital for Children, Professor in the Department of Surgery (Division of Experimental Surgery), and Associate Member in the Departments of Human Genetics and Biochemistry.
The structure, function and pathology associated with the extracellular matrix macromolecules
of connective tissues. Research questions include, 1) How do changes in molecular abundance
and structure influence tissue function? and 2) How do gene mutations give rise to tissue
pathology? Of particular interest are the collagens and proteoglycans that form the structural
framework of the tissues. These molecules change in their structure and abundance during both
fetal and postnatal life, and it is important to understand how these changes are regulated and
how they influence tissue function. Abnormal perturbation in molecular structure or abundance
due to a gene mutation may result in pathological changes, and it is important to understand
which changes are not compatible with normal function. The tissues of major interest are those
of the skeletal system – bone, cartilage and intervertebral disc, and the genetic disorders under
study fall in the family of osteochondrodysplasias. The techniques being used include the
analysis of gene mutations in patients, and the development of transgenic mouse models to study
the consequence of abnormal gene expression.
I am not presently accepting graduate students.