Josef Prchal, M.D.
Molecular Basis of Polycythemic Disorders: From Bedside to the Lab and Back
Dr. Prchal received the award for his work on defining the molecular basis for Chuvash polycythemia, the first inherited disorder of hypoxia sensing, and uncovering the molecular basis of other blood disorders.
Dr. Prchal’s nomination was based on the following publications:
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet. 2002 Dec;32(4):614-21.
Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TR, Gordeuk V, Prchal JT. The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood. 2004 Mar 1;103(5):1937-40.
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT.Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood. 2005 Feb 1;105(3):1337-42.