Abstract
The study of individuals with exceptional phenotypes can lead to key scientific insights. Recently, a 69-year-old woman with remarkable tolerance to pain and accelerated cutaneous wound healing was found to have an 8 kb genomic deletion in the fatty acid amide hydrolase pseudogene, FAAHP1. Pseudogenes derive from protein-coding genes and have acquired mutations during evolutionary history that disable full protein-coding potential. They were long thought to be biologically inert. However, recent studies have demonstrated functional roles for pseudogenes in biology and disease, operating through DNA- and RNA-based mechanisms.
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