5. Pathways, phenotypes, and phenocopies
The challenge of the 21st century for all scientific and engineering disciplines is understanding and managing complexity.
Identifying a specific gene responsible for a genetic disease is cause for celebration because it opens the way for diagnostic testing and in-depth investigation of the molecular pathogenesis of disease. Through such studies, therapies may be developed.
From time to time, patients who present with symptoms and signs typical of a specific genetic disease fail to reveal changes in the genes known to cause that disease. These patients may have a different disease that is referred to as a phenocopy of the known disease because the phenotypes are ...