Zhen Ren, MD, PhD
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Washington University in St. Louis (WU)
Hereditary angioedema (HAE) is a rare genetic disorder that presents as recurrent, unpredictable episodes of tissue swelling. More than 50% of HAE patients have experienced laryngeal attacks, of which approximately half are life-threatening due to asphyxiation. The pathogenesis of HAE is linked to mutations in C1 esterase inhibitor (C1INH). HAE is commonly categorized based on low plasma C1INH levels (Type I) or normal antigenic levels but with a dysfunctional C1INH (Type II). However, there is substantial variability in presentation by HAE patients. In addition, an increasing number of HAE cases have been reported with normal functional C1INH (Type III). Our understanding of HAE Type III is limited. Lacking molecular diagnostic markers, majority of these cases fall into the category of Angioedema of Unknown Cause (AUC). My research is focused on investigating the genomic associations with clinically variability of HAE and searching for biomarkers to diagnose and treat AUC.