Research

The Comprehensive Bone Marrow Failure (BMF) Center at The Children’s Hospital of Philadelphia brings together physicians and researchers to provide state of the art diagnostics, clinical care and investigational studies as well as basic research focused on acquired and inherited BMF. The center is closely affiliated colleagues caring for adult BMF patients at the Hospital of the University of Pennsylvania.

  • Understand cause of stem cell losses in Fanconi Anemia.
    • Failure of the hematopoietic system with stem cell losses is a near uniform occurrence in FA. The etiology remains unknown and we are using murine models to understand the underlying defect
  • The role of FA proteins during hematopoietic development Hematopoietic development in bone marrow failure diseases is poorly understood and fetal deficits remain to be elucidated.
    • As hematopoietic stem cells undergo maturation to an adult phenotype well after birth, therapeutic opportunities that focus on fetal characteristics may reveal additional therapeutic opportunities.
  • The role of cell-derived extracellular vesicles in stem cell regulation.
    • Cell derived vesicles are constitutively released by cells. The transmission of protein an RNA cargo to other cells in both paracrine and endocrine manner has revealed potent regulatory capacity. We are beginning to study their role in HSC regulation in several loss and gain of function models.

Research Topic: acute myeloid leukemia, Hematopoietic Stem Cells, Fanconi Anemia, Gene Therapy, Extracellular Vesticles

  • The role of germline genetic predisposition syndromes in the development of pediatric myelodysplastic syndrome and acute myeloid leukemia
  • Patterns of HLA allele expression and clonal evolution in acquired aplastic anemia, and how these findings may serve as biomarkers for disease response as well as clues to the underlying immune basis of this disease
  • Investigation of how intrinsic pathways governing hematopoietic stem cell niche function can be harnessed to improve the efficiency and durability of donor engraftment after hematopoietic stem cell transplantation, particularly in the context of bone marrow failure syndromes.
  • Clinical trials of novel conditioning and T cell depletion strategies to improve survival and decrease allo-immune complications for patients with non-malignant hematologic disorders undergoing hematopoietic stem cell transplantation.

Research Topic: Bone Marrow Failure, Hematopoiesis, Aplastic Anemia, clonal hematopoiesis, pediatric myelodysplastic syndrome, acute myeloid leukemia, AML/MDS predisposition, paroxysmal nocturnal hemoglobinuria, Immune evasion, autoimmunity

The long-term goal of the Babushok Laboratory to improve the outcomes of patients with bone marrow failure disorders through bench-to-bedside research aimed at elucidating mechanisms of hematopoietic failure and transforming this knowledge into rational therapies.

Research Topic: Bone Marrow Failure, Hematopoiesis, Aplastic Anemia, clonal hematopoiesis, pediatric myelodysplastic syndrome, acute myeloid leukemia, AML/MDS predisposition, paroxysmal nocturnal hemoglobinuria, Immune evasion, autoimmunity

The Division of Genomic Diagnostics (DGD) provides a wide spectrum of testing for genetic conditions, cancer diagnosis, risk stratification, and therapeutic decision making, and histocompatibility and immunogenetics. Our testing ranges from genome wide analyses, such as cytogenetics, chromosomal microarray analysis and exome sequencing to more targeted testing, including HLA typing, fluorescence in situ hybridization (FISH), gene panels and single gene testing.

We offer testing on more than 10 different types of samples and employ more than 10 distinct testing technologies. Our testing focuses on three main areas: constitutional genomic testing, cancer genomic testing, and immunogenetics testing. Click here to learn more about the DGD Group.