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The focus of our laboratory has been in understanding processes controlling normal and perturbed hematopoiesis. Control of gene regulation in hematopoietic cells, particularly erythropoiesis, including the role of specific transcription factors and epigenetic factors on the regulation of entire programs of genes, is a specific area of study. We have applied genomic strategies, including RNA-seq, single cell sequencing, methylation analyses, ChIP-seq, ATAC-seq, and other relevant techniques, as well as novel phosphoproteomic and quantitative proteomic techniques, to our understanding of blood cell formation. Our use of erythrocyte membrane genes as models of regulation of complex genetic loci has many benefits, particularly because the genes are large and are represented by many cell, tissue, and developmental stage-specific isoforms. Another focus of the laboratory is study of perturbed hematopoiesis, especially erythropoiesis. Disorders under study include inherited disorders of the erythrocyte, including disorders of erythrocyte shape, metabolism, and hemoglobin. Related work includes study of the genetic bases of erythrocyte volume regulation and ion transport in normal and disease states such as xerocytosis, hydrocytosis, and sickle cell disease. Our studies identified the first hereditary xerocytosis gene as FAM38A encoding PIEZO1, the first report of mutations in a mammalian mechanosensory transduction channel, and later KCNN4, the Gardos channel as another xerocytosis gene. Other disorders under study include congenital erythrocytosis/familial polycythemia, congenital dyserythropoietic anemias, bone marrow failure syndromes, congenital neutropenias and thrombocytopenias. Functional studies employ in vivo and in vitro models, and utilize biologic, physiologic, genetic and genomic based techniques, including enzymatic and nonenzymatic gene editing approaches. Together, the goal of our work is to obtain novel insights into the processes controlling normal and perturbed hematopoiesis that will ultimately translate into design of strategies to diagnose, treat, and prevent inherited and acquired disorders of blood cell formation.

Human Erythroid Cells