Stella T Chou, M.D.

faculty photo
Associate Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics
Graduate Group Affiliations

Contact information
3615 Civic Center Boulevard
Abramson Research Building, Room 316D
Philadelphia, PA 19104
Office: 215-590-0947
Fax: 215-590-4834
B.A. (History)
Duke University, 1995.
New York Medical College, 2000.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Research Expertise

The focus of my laboratory is regenerative blood cellular therapy, the mechanisms of normal human hematopoietic development, and how these become disrupted in hematologic diseases.

Blood development, stem cells, red cells, regenerative medicine, hematologic diseases, leukemia, sickle cell disease

Research Details
My research laboratory focuses on regenerative blood cellular therapy, the mechanisms of normal human hematopoietic development, and how these become disrupted in hematologic diseases. My laboratory uses induced pluripotent stem cells (iPSCs) and primary human cells to both model blood diseases and create customized iPSCs with rare blood group antigen combinations as renewable sources of red cells. Translational work from my lab has been at the forefront of integrating molecular technologies into clinical transfusion medicine practice and developing novel tools to improve red cell therapy, particularly for individuals with sickle cell disease.

One focus of my laboratory is to investigate mechanisms of hematopoietic development and to understand the role of genetic modifiers in pediatric hematologic diseases, with a particular interest in Down syndrome associated blood abnormalities. My lab uses iPSCs and primary samples from patients with blood diseases to model key features of these disorders and to study the underlying pathophysiology.

My laboratory is actively pursuing novel approaches to improve red blood cell therapy for patients with sickle cell disease. Research from my collaborative team demonstrated that variant RH among patients and donors contribute to Rh alloimmunization following transfusion. Ongoing work examines the RH loci in patients and blood donors and determining whether genetically matched blood at RH and other blood group loci can avoid alloimmunization. My laboratory is creating customized iPSCs with designer blood group antigen combinations as renewable sources of red cells for the transfusion service laboratory, and for future use as transfusion products.

Rotation Projects
Projects include understanding the role of Trisomy 21, GATA1, and other mutations in anemia, thrombocytopenia, myeloproliferative disorders and pediatric leukemias. Other projects include understanding developmental cues for the transition from primitive (yolk sac) to definitive (fetal liver, adult) blood programs, investigating pathways or manipulating genes to enhance in vitro red cell differentiation and production, and additional uses for in vitro grown red cells.

Please contact Dr. Chou at chous@chop.edu for details on specific projects.

Lab Personnel
Hyun Hyung (Claire) An, Graduate student
Naomi Gunawardena, Postdoctoral fellow
Rachel Helton, Research technician
Sara Kumar, Research technician
Yingting (Annie) Sit, Research associate
Kaoru Takasaki, Postdoctoral fellow
Stacey Uter, Clinical Research coordinator
Zhe (Jim) Zhang, Bioinformatics scientist

Description of Clinical Expertise

Pediatric Hematology, Transfusion Medicine, Transfusion therapy in sickle cell disease.

Selected Publications

Zhang Z, An HH, Vege S, Hu T, Zhang S, Mosbruger T, Jayaraman P, Monos D, Westhoff CM, Chou ST.: Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion. Am J Hum Genet 109: 180-191, Jan 2022.

Chang T, Haupfear KM, Yu J, Rampersaud E, Sheehan VA, Flanagan JM, Hankins JS, Weiss MJ, Wu G, Vege S, Westhoff CM, Chou ST, Zheng Y : A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data. Blood Adv 4(18): 4347-4357, Sept 2020.

Tasian SK, Casas JA, Posocco D, Gandre-Babbe S, Gagne AL, Liang G, Loh ML, Weiss MJ, French DL, Chou ST: Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells. Leukemia 33(1): 181-190, Jan 2019.

Grevet JD, Lan X, Hamagami N, Edwards CR, Sankaranarayanan L, Ji X, Bhardwaj SK, Face CJ, Posocco DF, Abdulmalik O, Keller CA, Giardine B, Sidoli S, Garcia BA, Chou ST, Liebhaber SA, Hardison RC, Shi J, Blobel GA: Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells. Science 361(6399): 285-290, July 2018.

Chou ST, Evans P, Vege S, Coleman SL, Friedman DF, Keller M, Westhoff CM: RH genotype matching for transfusion support in sickle cell disease. Blood 132(11): 1198-1207, Sep 2018 Notes: *featured article.

Chou ST, Flanagan JM, Vege S, Luban NLC, Brown RC, Ware RE, Westhoff CM : Whole exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia. Blood Adv 1(18): 1414-1421, Aug 2017.

Byrska-Bishop M, VanDorn D, Campbell AE, Betensky M, Arca PR, Yao Y, Gadue P, Costa FF, Nemiroff RL, Blobel GA, French DL, Hardison RC, Weiss MJ, Chou ST: Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus. J Clin Invest 125(3): 993-1005, Jan 2015.

Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG: Targeted application of human genetic variation can improve red blood cell production from stem cells. Cell Stem Cell 18(1): 73-78, Jan 2016.

Chou ST, Jackson T, Vege S, Smith-Whitley K, Friedman DF, Westhoff CM: High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors. Blood 122(6): 1062-71, May 2013.

Chou ST, Byrska-Bishop M, Tober JM, Yao Y, Vandorn D, Opalinska JB, Mills JA, Choi JK, Speck NA, Gadue P, Hardison RC, Nemiroff RL, French DL, Weiss MJ: Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells. Proc Natl Acad Sci U S A 109(43): 17573-8, Oct 2012.

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Last updated: 08/04/2022
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