Cory Simpson, MD, PhD

Assistant Professor of Dermatology, University of Washington, Seattle

Award: $50,000

Darier disease is an incurable genetic skin disorder caused by impaired keratinocyte adhesion and cornification. Though linked to SERCA2 deficiency more than 20 years ago, there is still no FDA-approved treatment for this rare disease. Based on our recent work identifying hyper-activation of EGF receptor signaling in Darier disease, we will assess the therapeutic potential of inhibiting this pathway. As well, we will leverage new platforms to identify compounds for treating Darier disease. As a physician-scientist specializing in rare skin disorders, I see firsthand the need for innovative research aimed at identifying new treatments for patients with inherited dermatologic diseases. Commercial entities are often reluctant to invest in early pre-clinical studies for such uncommon disorders, which is why FIRST funding is critical. Our proposed studies focus on Darier disease, which causes immense suffering in patients due to chronic skin break-down and recurrent infections. As an under-studied disease that lacks any FDA-approved therapy, patients with this disorder are treated using off-label medications having grave side effects (oral steroids) or teratogenicity (retinoids). We established in vitro human cellular and organotypic tissue models of Darier disease and are poised to identify novel treatment strategies for patients.

Read Dr. Simpson's 6 month report here.

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