Hidradenitis suppurativa (HS) is an underrecognized common, immune-mediated skin disease characterized by inflammatory nodules, abscesses, and sinus tracts in the groin, buttocks, and axillae leading to devasting physical and emotional morbidity.Treatments for HS are poor, with only a single approved therapy available. The paucity of treatments is driven by a profound lack of understanding of HS pathogenesis, particularly with respect to the genetic pathways involved.

 

In conjunction with the U.S. HS Foundation and the U.S. National HS Patient Registry, we have assembled an international team of HS expert clinicians, geneticists, statisticians, and immunologists to conduct a large-scale genetic study of HS. We pursue the following aims:

 

Aim 1. Conduct a genome-wide association study (GWAS) of HS in over 3,600 cases and 235,000 controls to define common genetic variants associated with HS.

 

Aim 2. Perform exome sequencing in over 40 HS families to identify rare genetic variants associated with HS.

 

Aim 3. Conduct functional studies of HS genes to define the mechanism by which genetic variants contribute to disease.

 

This project combines best-in-class approaches for subject recruitment, patient phenotyping, DNA sequencing, bioinformatic analysis, and functional studies, all performed by an experienced team at the Technical University of Munich, University of California San Francisco and Henry Ford University. The expected outcome of this work will be first, the identification of multiple novel common genetic variants associated with HS and their associated pathways; second, the identification of novel rare genetic variants associated with HS; and third, cellular and genomic functional studies that provide mechanistic insight into the disease.