PMID: 12499959
Issn Print: 0271-6798
Publication Date: 2003/01/01
Molecular and Genetic Approaches to Musculoskeletal Diseases
Excerpt
The past two decades have witnessed an enormous forward leap in genetic and molecular biology research. It is nearly impossible to think of a field of medicine not significantly impacted by this extraordinary scientific progress, and pediatric orthopaedic surgery is no exception. From identification of the genetic defects in many of the skeletal dysplasias to the improved understanding and treatment of nongenetic disorders of the developing musculoskeletal system, pediatric orthopaedics has begun to reap the benefits of this rapidly expanding research. This article discusses the basics of molecular and genetic approaches to investigation of musculoskeletal disorders, highlighting five fundamental areas of inquiry: (1) studies of endogenous gene expression; (2 and 3) studies of the effects of loss or gain of gene function; (4) discovery of disease-causing genes; and (5) potential gene therapy.
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