PHYSICIANS & RESEARCHERS

Explore the latest SDS research in hematology, including clinical trials, recent publications and engaging lectures by researchers and physicians.

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Can we prevent leukemia in patients with Shwachman-Diamond syndrome?

“Once patients with SDS develop leukemia, the prognosis is poor. The best chance of prolonging survival is to intervene before the leukemia starts.”

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Bone marrow-on-a-chip provides new research directions for SDS

A research tool that mimics the behavior of diseased bone marrow provides a new strategy for understanding SDS, and hopefully, developing new treatments. 

Recent SDSR Publications

2021
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Hematologic Complications with Age in Shwachman-Diamond Syndrome

2020
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Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

2020
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Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

Other Recent SDS-Related Publications

2020
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Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome

2017
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Pregnancy outcomes in inherited bone marrow failure syndromes

2017
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Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.

More SDS Registry Publications

  1. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
    Furutani E, Shah AS, Zhao Y, Andorsky D, Dedeoglu F, Geddis A, Zhou Y, Libermann TA, Myers KC, Shimamura A.
    Am J Med Genet A. 2020 Jul;182(7):1754-1760. doi: 10.1002/ajmg.a.61593. Epub 2020 Apr 15.
    PMID: 32293785

     

  2. Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.
    Ruiz-Gutierrez M, Bölükbaşı ÖV, Alexe G, Kotini AG, Ballotti K, Joyce CE, Russell DW, Stegmaier K, Myers K, Novina CD, Papapetrou EP, Shimamura A.
    JCI Insight. 2019 Apr 30;5(12):e125157. doi: 10.1172/jci.insight.125157.PMID: 31039138

     

  3. Chou DB, Frismantas V, Milton Y, David R, Pop-Damkov P, Ferguson D, MacDonald A, Vargel Bölükbaşı Ö, Joyce CE, Moreira Teixeira LS, Rech A, Jiang A, Calamari E, Jalili-Firoozinezhad S, Furlong BA, O'Sullivan LR, Ng CF, Choe Y, Marquez S, Myers KC, Weinberg OK, Hasserjian RP, Novak R, Levy O, Prantil-Baun R, Novina CD, Shimamura A, Ewart L, Ingber DE. On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology. Nat Biomed Eng. 2020. 4(4): 394-406. PMID: 31988457 
     

  4. Joyce CE, Saadatpour A, Ruiz-Gutierrez M, Bolukbasi OV, Jiang L, Thomas DD, Young S, Hofmann I, Sieff C, Myers KC, Whangbo J, Libermann TA, Nusbaum C, Yuan GC, Shimamura A, Novina CD. TGFb signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman Diamond Syndrome.  J Clin Invest 2019. 129(9): 3821-3826.  PMID: 31211692
     

  5. Nelson AS, Myers KC. “Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.”   Hematol Oncol Clin North Am 32(4):687-700 Aug 2018
     

  6. Nelson A, Myers K. Shwachman-Diamond Syndrome. 2008 Jul 17 [Updated 2014 Sep 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.  2008 Jul 17 [updated 2018 Oct 18].
     

  7. Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC. Somatic mutations and clonal hematopoiesis in congenital neutropenia.  Blood. 2018 Jan 25;131(4):408-416. PMID: 29092827
     

  8. Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.   Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.  J Clin Invest. 2017 Nov 1;127(11):4090-4103.  PMID: 28972538.

  9. Ryan TD, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K. Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer. 2015 Jul;62(7):1228-31. doi: 10.1002/pbc.25456. Epub 2015 Mar 2. PMID: 25732529; PMCID: PMC4819242.
     

  10. Myers, KC, Bolyard, AA, Otto, B, Jones, A, Wong, TE, Harris, RE, Davies, SM, Dale, DC, Shimamura, A. Variable clinical presentation of Shwachman Diamond Syndrome: Update from the North American Shwachman Diamond Syndrome Registry.  J Pediatr. 2014. 164(4):866-70.  PMID: 24388329

SDS-Related Publications

  1. Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016 Nov;101(11):1343-1350. PMID: 27418648
     

  2. Seo, A, Walsh, T, Lee, M, Ho, P, Hsu, E, Sidbury, R, King, MC, Shimamura, A.  FAM111B mutation is associated with inherited exocrine pancreatic dysfunction. Pancreas 2016.  Jul; 45(6):858-62. [PMID: 26495788]
     

  3. Burroughs, LM, Nemecek, ER, Torgerson TR, Storer, BE, Talano J, Domm J, Giller RH, Shimamura A, Delaney C, Skoda-Smith S, Thakar MS, Baker KS, Rawlings DJ, Englund JA, Flowers ME, Deeg HJ, Storb R. Woolfrey AE.  Treosulfan-Based Conditioning and Hematopoietic Cell Transplantation for Nonmalignant Diseases. Biol Blood Marrow Transplant. 2014. 20(12):1996-2003. PMID: 25196857
     

  4. Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. Pluripotent Stem Cell Models of Shwachman Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction. Cell Stem Cell. 2013. 12(6): 727-736.  PMID: 23602541
     

  5. Burwick, N, Coats, SA, Nakamura, T, and Shimamura, A.  Impaired Ribosomal Subunit Association in Shwachman Diamond Syndrome.  Blood 2012. 120(26):5143-52. PMID: 23115272
     

  6. Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ. Disease-Specific Induced Pluripotent Stem Cells. Cell. 2008; 134(3):1-10.  PMCID: PMC2633781
     

  7. Kayed H, Bekasi S, Keleg S, Welsch T, Esposito I, Shimamura A, Michalski CW, Friess H, Kleeff J.  Expression of the Shwachman-Bodian-Diamond syndrome (SBDS) protein in human pancreatic cancer and chronic pancreatitis.  Histol Histopathol. 2008 Jul;23(7):819-26.  PMID: 18437680
     

  8. Austin, K.M., Gupta, M.L., Coats, S.A. Tulpule, A., Mostoslavsky, G., Balazs, A.B., Mulligan, R.C., Daley, G. Q., Pellman, D., and Shimamura, A. Mitotic spindle destabilization and genomic instability in Shwachman Diamond Syndrome.  Journal of Clinical Investigation, 2008 Apr;118(4):1511-8.  PMCID:  PMC2263145
     

  9. Ganapathi, K.A., Austin, K.M., Lee, B., Dias, A. Malsch, M., Reed, R., and Shimamura, A.  The human Shwachman Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood, 2007; 110 (5): 1458-1465.  PMCID: PMC1975835
     

  10. Austin KM, Leary RJ, Shimamura A. The Shwachman Diamond SBDS protein localizes to the nucleolus. Blood, 2005; 106(4): 1253-8. PMCID: PMC1895203.

SDS-Related Review Articles

  1. Furutani, E. and Shimamura, A.  Genetic predisposition to MDS: diagnosis and management.  Hematology Am Soc. Hematol Educ Program.  2019 Dec 6;2019(1): 110-119.  PMID: 31808839

  2. Kennedy, AL. and Shimamura, A. Genetic predisposition to MDS: clinical features and clonal evolution.  Blood. 2019 Mar7; 133(10):1071-1085. PMID: 30670445

  3. Furutani, E, Newburger, PE, Shimamura, A. Neutropenia in the age of genetic testing: Advances and challenges.  Am J Hematol. 2018 Dec 8. doi: 10.1002/ajh.25374. [Epub ahead of print] PMID: 30536760

  4. Godley, L.A. and Shimamura, A. Genetic predisposition to hematologic malignancies: Management and surveillance.  Blood 2017130(4):424-432.   PMID: 28600339

  5. Furutani, E. and Shimamura, A. Germline Genetic Predisposition to Hematologic Malignancy. J. Clin Oncol. 2017 Mar 20;35(9):1018-1028. PMID: 28297620.

  6. Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev. 2017 31(3):93-99.. PMID: 27760710.

  7. Ruggero, D, and Shimamura, A.  Marrow Failure: A Window into Ribosome Biology. Blood. 2014. 124(18):2784-2792. PMID: 25237201

  8. Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M. Spindle microtubule dysfunction and cancer predisposition. J Cell Physiol. 2014. 229(12):1881-3. PMID: 24905602

  9. ​ Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013.  27(1):117-28. PMID: 23351992

  10. Burwick N, Shimamura A, Liu JM. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.  Semin Hematol. 2011 Apr;48(2):136-43. PubMed PMID: 21435510; PMCID: PMC3072806.
     

  11. Huang JN and Shimamura A. Clinical spectrum and molecular pathophysiology of Shwachman Diamond syndrome. Curr Opin Hematol. 2011 Jan;18(1):30-5.   PMCID: PMC3485416.

  12. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes, Blood Rev 2010, 24(3): 101-122.  PMCID: PMC3733544

  13. Sakamoto KM, Shimamura A, Davies SM. Congenital disorders of ribosome biogenesis and bone marrow failure. Biol Blood Marrow Transplant. 2010 Jan;16(1 Suppl):S12-7.  PMID: 19770060.

  14. Shimamura A. Clinical approach to marrow failure. Hematology Am Soc Hematol Educ Program. 2009:329-37. PMCID:  PMC2867260.

  15. Ganapathi, K.A. and Shimamura, A. Ribosomal Dysfunction in Inherited Marrow Failure.  British Journal of Haematology, 2008 May;141(3):376-87.  PMID: 18410571

  16. Shimamura, A. Shwachman Diamond syndrome. Seminars in Hematology, 2006, 43, 178-88.  PMID: 16822460
     

  17. Shimamura, A. Inherited Bone Marrow Failure Syndromes: Molecular Features.  Hematology, 2006;63-71. PMID: 17124042.

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Collaborators

The SDS Registry welcomes collaborations with clinical and basic science researchers to advance our understanding of SDS. Please direct all inquiries regarding potential collaborations, either in the form of data or biological samples, to SDSRegistry-dL@childrens.harvard.edu. You can also submit your inquiry by filling out our contact form.

Do you have a patient with SDS?

The SDS Registry is a resource for physicians seeking the latest medical information and data about SDS.  Please contact the SDS Registry to speak with our doctors about SDS.​

 

Please use the form linked below for inquiries and questions to contact our registry staff and expert SDS clinicians.