2019-2021 News and Scientific Articles

CHOP Researchers Develop Potentially Safer, More Effective Gene Therapy Vector for Blood Disorders

Molecular Cell "Voices on Diversity: Overcoming Barriers to Pursuing a Career in Science". Featuring Amaliris Guerra

New Studies Provide Important New Clues For Treating Red Blood Cell Disorders

From Sci-Fi to Real Life, Stefano Rivella, PhD, on the Verge of Discovery

Marcel Simon Award to Dr. Stefano Rivella

Minihepcidins improve ineffective erythropoiesis and splenomegaly in a new mouse model of adult beta-thalassemia major.

New potential players in hepcidin regulation.

Lobe specificity of iron-binding to transferrin modulates murine erythropoiesis and iron homeostasis.

Gene therapy of hemoglobinopathies: progress and future challenges.

Development and characterization of cellular biosensors for HTS of erythroid differentiation inducers targeting the transcriptional activity of γ-globin and β-globin gene promoters.

Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia.

Interleukin-6 Contributes to the Development of Anemia in Juvenile CKD.

Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia.

Gene Therapy for Beta-Hemoglobinopathies: Milestones, New Therapies and Challenges.

Iron metabolism under conditions of ineffective erythropoiesis in β-thalassemia.

2017-2018 News and Scientific Articles


Hepcidin agonists as therapeutic tools.

Inhibition of fibroblast growth factor 23 (FGF23) signaling rescues renal anemia.

Emerging Therapies.

Ineffective Erythropoiesis: Anemia and Iron Overload.

Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia.

Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major.

Efficacy and safety of ruxolitinib in regularly transfused patients with thalassemia: results from a phase 2a study.

What can we learn from ineffective erythropoiesis in thalassemia?

Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury.

Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.

Tropomodulin 1 controls erythroblast enucleation via regulation of F-actin in the enucleosome.

Recommendations regarding splenectomy in hereditary hemolytic anemias.

Targeting iron metabolism in drug discovery and delivery.

Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice.

A Red Carpet for Iron Metabolism.

Hepcidin inhibits Smad3 phosphorylation in hepatic stellate cells by impeding ferroportin-mediated regulation of Akt.

2016-2018 News and Scientific Articles

Lack of Hepcidin Ameliorates Anemia and Improves Growth in an Adenine-induced Mouse Model of Chronic Kidney Disease. Growth delay is common in children with chronic kidney disease (CKD), often associated with poor quality of life. Our study suggests that hepcidin appears to be related to pathways of growth retardation in CKD and that investigation of hepcidin lowering therapies in juvenile CKD is warranted.

Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers. A new powerful tool generated by the Blobel lab (see articles Deng W et al, Cell 2012 and Deng W et al, Cell 2014) is able to increase fetal hemoglobin in cells from sickle cell anemia patient in vitro.

Drug-like peptides show promise in treating 2 blood diseasesOur research suggests that synthetic peptides called minihepcidins may potentially treat two serious genetic blood diseases in children and adults. Although those diseases, beta-thalassemia and polycythemia vera, have opposite effects on red blood cell production, treating animals with minihepcidin helps to restore normal levels of red blood cells and reduces spleen enlargement.

Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera. Our study shows that a Hepcidin agonist can ameliorate anemia in ß-thalassemia and normalize the hematocrit in PV.

Combination of Tmprss6-ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia. Our study shows that an antisense oligonucleotide targeting Tmprss6 combined with the oral iron chelator DFP, is more powerful in reducing hepatic iron stores than either therapy alone, independently from dietary iron content.


Sultan bin Khalifa International Thalassemia Award - Innovative Medical Research award to Dr. Stefano Rivella