Comprehensive Bone Marrow Failure Center Resources

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CBMFC Repository Information

The Comprehensive Bone Marrow Failure Program at Children’s Hospital of Philadelphia has made it part of its mission to offer patients the opportunity to participate in studies that collect blood and tissue to help advance our understanding of bone marrow failure. Collaboratively working with national and international experts in the field, important questions can be addressed directly by collecting, carefully curating and studying samples from patients who come to CHOP or the University of Pennsylvania Hospital for consultation and care.

Since inception in 2010, our Bone Marrow Failure Repository has grown to encompass over 600 primary subjects and in some cases, family members of those subjects. We also have samples from more than 400 family members in the repository. These individuals have enrolled from all over the United States and the world. The CHOP Bone Barrow Failure Center gratefully acknowledges participation by patients, siblings, parents, nurses and laboratory staff in building this critical resource.

The repository collects blood, bone marrow aspirate and sometimes skin samples from enrolled subjects during routine clinic visits. The samples are coded and processed by experienced staff members and made available for research studies. In aggregate, we currently have over 9,000 stored samples in our repository.

To learn more about the Repository, please contact [email protected].

Below are some of our most recent publications that rely on data from repository samples:

Babushok DV, Duke JL, Xie HM, Stanley N, Atienza J, Perdigones N, Nicholas P, Ferriola D, Li Y, Huang H, Ye W, Morrissette JJD, Kearns J, Porter DL, Podsakoff GM, Eisenlohr LC, Biegel JA, Chou ST, Monos DS, Bessler M, Olson TS. Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications. Blood Adv. 2017 Oct 10;1(22):1900-1910. PMID: 28971166.

Betensky M, Babushok D, Roth JJ, Mason, PJ, Biegel JA, Busse TM, Li Y, Lind C, Papazoglou A, Monos D, Podsakoff G, Bessler M, and Olson TS. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia.. Cancer Genet. 2016 Jan-Feb;209(1-2):1-10. PMID: 26702937 .

Babushok DV, Stanley NL, Morrissette JJD, Lieberman DB, Olson TS, Chou ST, Hexner EO. Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32. Leukemia. 2018 Dec;32(12):2720-2723. PMID: 30087419.

Sarthy J, Zha J, Babushok D, Shenoy A, Fan J, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson T. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018 Jan 23;2(2):120-125. PMID: 29365320