We are living in a time that will probably be remembered asa golden age of discovery in human genetics. Most of the recentexcitement has focused on the identification of genes that contributeto the risk of common diseases, so it is easy to forget howmuch can be learned from the study of rare "single-gene" disorders.Although barely noticed by most physicians, these rare disorderscan impose an enormous burden on affected patients and theirfamilies. Characterization of the gene associated with a disorderprovides the key to understanding the relevant pathophysiology,and this understanding may lead to . . . [Full Text of this Article]
Source Information
Dr. Korf is a professor and chair of the Department of Genetics at the University of Alabama at Birmingham, Birmingham.
This article has been cited by other articles:
Krane, S. M.
(2008). A New Look at a Rare Old Disease. IBMS BoneKEy
5: 253-257
[Full Text]