Sickle cell disease articles within Nature Communications

Featured

• Article
  27 February 2024 | Open Access

  Development of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studies

  Sickle cell disease (SCD) and β-thalassemia (BT) are globally prevalent inherited blood disorders but, despite extensive research, no ex vivo system exists for SCD and BT. Here, the authors generate pathophysiologically relevant erythroid progenitor models of SCD and BT.

  • Pragya Gupta
  • , Sangam Giri Goswami
  •  & Sivaprakash Ramalingam

• Article
  12 October 2023 | Open Access

  Fertility-preserving myeloablative conditioning using single-dose CD117 antibody-drug conjugate in a rhesus gene therapy model

  Successful engraftment of human hematopoietic stem cells during gene therapy requires myeloablative conditioning of the recipient, at the expense of toxicity. Authors show here that a single-dose of anti-CD117 antibody-drug conjugate achieves similar engraftment results as traditional multi-dose busulfan conditioning but preserves fertility in a non-human primate model.

  • Naoya Uchida
  • , Ulana Stasula
  •  & John F. Tisdale

• Article
  17 August 2021 | Open Access

  A unified model of human hemoglobin switching through single-cell genome editing

  Genetic mechanisms underlying fetal hemoglobin (HbF) regulation and switching are not fully understood. Here, the authors develop a single-cell genome editing functional assay to model how effects of mutation-harbouring functional elements contribute to HbF expression.

  • Yong Shen
  • , Jeffrey M. Verboon
  •  & Vijay G. Sankaran

• Article
  19 March 2021 | Open Access

  Red blood cell mannoses as phagocytic ligands mediating both sickle cell anaemia and malaria resistance

  Red blood cells (RBCs) are phagocytosed in the spleen in sickle cell disease and malaria. Here, Cao et al. show that high mannose N-glycans, exposed on diseased or oxidized RBC surfaces, bind mannose receptor CD206 on host cells, mediating phagocytosis.

  • Huan Cao
  • , Aristotelis Antonopoulos
  •  & Mark A. Vickers

• Article
  02 October 2019 | Open Access

  Development of a forward-oriented therapeutic lentiviral vector for hemoglobin disorders

  Vectors used in gene therapy for hemoglobin disorders carry globin in a reverse-orientation to prevent the loss of key regulatory elements by RNA splicing, but this limits their efficiency. Here, the authors develop a vector carrying β-globin in a forward orientation and show that it has improved titers and transduction efficiency in humanized mice and nonhuman primates.

  • Naoya Uchida
  • , Matthew M. Hsieh
  •  & John F. Tisdale