2008/02/06 by Bruce R. Korf · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Nuclear Structure and Function #RNA Research and Splicing #RNA regulation and disease #Progeria #Medicine #Identification (biology) #Genetics #Gene #Biology
paper · doi:10.1056/nejmp0800071
openalex publication_date 2008/02/06 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
We are living in a time that will probably be remembered as a golden age of discovery in human genetics. Most of the recent excitement has focused on the identification of genes that contribute to the risk of common diseases, so it is easy to forget how much can be learned from the study of rare “single-gene” disorders. Although barely noticed by most physicians, these rare disorders can impose an enormous burden on affected patients and their families. Characterization of the gene associated with a disorder provides the key to understanding the relevant pathophysiology, and this understanding may lead to . . .