Washington University School of Medicine – Erythrocytosis, Familial, 2

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Chuvash polycythemia (CP) is a rare form of congenital polycythemia caused by mutations in
the VHL gene. Currently, there are no therapies that have proven effective for CP. Recent
studies have demonstrated that VHL (von Hippel-Lindau tumor suppressor) regulates the
activity of JAK2 (Janus kinase 2). In mouse models, inhibition of JAK2 reverses the CP
phenotype. Therefore, the investigators hypothesize that JAK2 inhibition may have
significant clinical benefits for CP patients.

Rare Disease: