Peter Roughley, Ph.D.

Faculty Profiles


Genetics Unit

Shriners Hospital for Children

1529 Cedar Avenue

Montreal, Quebec

H3G 1A6, Canada

Tel: 1-514-282-7156 (office)

Fax: 1-514-842-5581




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.


Research Interest

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.


Graduate Students

I am not presently accepting graduate students.

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