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2001
Dr. Josef Prchal
Baylor College of Medicine
"Locate and identify the gene or genes whose defects are responsible for
ET."
The principal goal of the Research Proposal is to find the cause of Essential Thrombocythemia (ET) by identifying the gene(s) and its (their) mutation(s) that cause Essential Thrombocythemia (ET.) Additionally, we will attempt to identify the mutations of genes causing congenital thrombocythemia. We believe that successful fulfillment of this goal is an essential prerequisite for a) accurate and rapid diagnosis of ET, b) design of rational specific therapeutic strategies, and c) eventual cure of ET.
Dr. Josef Prchal
Baylor College of Medicine
"Continuation of 2000 Grant"
Polycythemia Vera (PV) is an acquired clonal myeloproliferative disorder. Our ultimate aim in identification of the gene or genes that lead to the development of PV phenotype - an essential requirement for the development of specific PV therapy and ultilmate PV cure. Based on our on-going evaluation of the accumulating data, it appears that the first acquired mutation is a loss of inhibitory function by another genetic event(s) necessary for full PV (and ET) phenotype. There is frequent overlap of PV and ET. Some PV Patients first present with thrombocytosis without elevation of red cell mass that may preceed by even several years the development of full PV phenotype; yet these subjects already have a PV specific defect, i.e. the presence of EPO independent crythroid progenitors when tested in vitro in the presence of scrum. We believe that the delineation of ET lesion will help to clarify the clinical complexity of PV phenotype.
