Homo sapiens platelet RNA sequencing. Homo sapiens

The pathogenesis of Essential Thrombocythemia (ET), a clonal disorder of the multipotential hematopoietic stem cell resulting in unusual increase in platelet production, is poorly understood at the molecular level. With the emergence of high-throughput Next-Generation Sequencing (NGS) technology and platelet transcript handling approaches originally developed in our laboratory, a survey of mutation profiles in platelets of ET patients become feasible. Our hypothesis is that patients with ET bear disease mutations in their platelet transcripts - identifying these mutations will significantly increase our understanding of the ET pathogenesis and pave the way for the development of novel diagnostic and treatment regimes. The goal of this study is to identify ET specific mutation profiles by sequencing platelet transcriptome in patients with ET, compared with healthy individuals.