Stephanie Halene, MD, PhD

Associate Professor of Medicine (Hematology)

Research Interests

Hematopoiesis; Leukemia; Myelodysplastic Syndromes; Alternative Splicing; Xenograft Model Antitumor Assays; Myelopoiesis

Research Organizations

Internal Medicine: Hematology: Halene Lab

Center for RNA Science and Medicine

Yale Cancer Center: Genomics, Genetics, and Epigenetics

Yale Stem Cell Center

Office of Cooperative Research

Research Summary

Dr. Halene's laboratory studies hematopoiesis and myelopoiesis and in particular how abnormalities of the hematopoietic stem and progenitor cells lead to diseases with abnormal numbers and function of blood cells. The laboratory uses primary patient cells and murine models to study mechanisms of disease leading to myelodysplasia and acute myeloid leukemia with the ultimate goal to contribute to the development of novel treatments.

Specialized Terms: Hematopoiesis; Leukemia; Myelodysplasia; Myelodysplastic syndrome; Stem cells; Humanized mice; Xenotransplantation; RNA splicing

Extensive Research Description

Below find a description of our ongoing research projects in the Halene Lab:

Splicing Factor Mutations in Myeloid Malignancies: We seek to understand the role of mutations in splicing factors (SFs), present in nearly 50% of patient with MDS and a subset of AMLs. Mutations in SFs are not only recurrent in nature, affecting specific amino acid positions, but also mutually exclusive, i.e. patients carry mutations in only one splicing factor. This suggests a common mechanism in the pathogenesis of MDS. We employ structural, molecular biology, and in vivo techniques to determine disease mechanism and develop novel therapeutics.

MDS/AML Co-clinical Models: MDS and AML are inherently difficult to study. They are heterogeneous diseases; only rare human cell lines have been successfully derived from patients’ MDS and few from patients with AML; hematopoietic and leukemic stem cells (HSC/LSC) do not grow in culture and MDS stem cells fail to efficiently engraft even in the best currently available mouse models. In collaboration with the Flavell laboratory we have developed the first highly efficient xenotransplantation model for MDS/AML in the humanized MISTRG mice amenable to drug treatments.

Hematology Tissue Bank: The Hematology Tissue Bank has been established to give researchers access to critical patient samples for the study of hematologic diseases. Should you wish to obtain samples for your research contact Dr. Halene via phone (203 785-7002) or e-mail (

Mouse Modeling Core (AMC) – Yale Cooperative Center of Excellence in Hematology (YCCEH): The Mouse Modeling Core, directed by Richard Flavell and Stephanie Halene, is part of the YCCEH with the goal to provide researchers with access to the latest technologies for hematologic studies in animal models. The AMC offers expertise, technical assistance, and mice for human-into-mouse xenotransplantation studies. It offers training and technical assistance in the study of hematopoiesis and benign hematologic questions in mice.

Selected Publications

Full List of PubMed Publications

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Contact Info

Stephanie Halene, MD, PhD
Patient Care Location
Yale Cancer CenterYale New Haven Hospital
20 York Street

New Haven, CT 06510
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Mailing Address
Hematology300 George St. 786
New Haven, CT 06511

Dysplastic human megakaryocyte