Atopic dermatitis (AD) is a chronic, inflammatory skin condition with a multifactorial pathophysiology. The filaggrin gene (FLG) has particularly been implicated given loss of function (LoF) mutations in this gene lead to skin barrier dysfunction and such mutations can increase a patient's likelihood of developing AD. FLG has intragenic copy number variation (CNV), which impacts the total amount of filaggrin produced.
View Article and Find Full Text PDFAtopic Dermatitis (AD) is a chronic, inflammatory skin condition that imposes an enormous personal and economic burden in the United States. Due to the ubiquity of the use of electronic medical records (EMR) in the United States, utilizing such data is critically important to studying common dermatologic diseases, such as AD. Our goal was to create a simple-to-use algorithm applied to EMR data to accurately identify AD patients thereby making it possible to efficiently use EMR data to ascertain and then study individuals with AD.
View Article and Find Full Text PDF