This technology identifies genes that can be targeted for diagnosis and treatment of the inflammatory skin disease hidradenitis suppurativa.
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease that is currently not well characterized or treated. There is one FDA approved treatment for HS with a failure rate of 35%. Current understanding of HS suggests a combination of genetic, hormonal, and environmental factors in its development, with one-third of cases being familial in nature. Better understanding of the genetic factors involved are needed to create more targeted therapies for HS.
This technology identified a causal relationship between aberrant variants of three genes in the JAK-STAT1 signaling pathway with increased risk of hidradenitis suppurativa (HS). These variants result in abnormal increases of mammalian target of rapamycin (mTOR) signaling and STAT1 expression in whole blood cells from HS patients when stimulated with inflammatory cytokines. This discovery provides improved knowledge of potential drug targets, which could be used for HS diagnosis and therapy.
Patent Pending
IR CU22273
Licensing Contact: Joan Martinez