simply blood

  Each month, Simply Blood spotlights a lab contributing to the fields of hematology, immunology, stem cell research, cell and gene therapies, and more. Get to know groups doing cutting edge research from around the world! This month, we are featuring the Elf Lab which is based out of the Huntsman Cancer Institute, University of Utah ( https://www.elflab.org/ ). What does your lab study? The primary focus of my lab is to understand the molecular mechanisms that govern myeloid blood cancers, with particular emphasis on MPNs. The long-term vision of my research program is to elucidate molecular dependencies specific to MPN stem cells (MPN-SCs) that can be targeted for therapeutic intervention with the ultimate goal of eradicating MPN-SCs, sparing normal HSCs, and curing the disease. When I first started my lab, we were particularly interested in how CALR mutations hijack ER stress response pathways to promote survival. Through these studies, we found that though type 1 and type 2 CALR mu

  Assessment of a novel NRAS in-frame tandem duplication causing a myelodysplastic/myeloproliferative neoplasm Cora C.A. Beckmann, Senthilkumar Ramamoorthy, Eirini Trompouki, Wolfgang Driever, Stephan Schwarz-Furlan, Brigitte Strahm, Ayami Yoshimi, Charlotte M. Niemeyer, Miriam Erlacher, Friedrich G. Kapp Myeloproliferative neoplasms (MPNs) and myelodysplastic syndrome (MDS) are rare hematologic disorders in children that can only be cured by hematopoietic stem cell transplantation (HSCT).  The genetics of pediatric MPN and MDS are only partially understood and are extrapolated from epidemiologic studies in older adults.  RAS pathway mutations often occur in pediatric MPN and MDS, and children with predisposition for these conditions often bear germline mutations in components of the RAS signaling pathway.  Led by Dr. Kapp at the Faculty of Medicine, University of Freiburg, the authors describe a 2-year-old patient with pancytopenia, massive splenomegaly with myeloid and erythroid prec