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PHYSICIANS & RESEARCHERS

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

Physicians & Reseachers

The SDS Registry is a resource for physicians seeking the latest medical information and data about SDS. Please contact the registry staff and expert SDS clinicians by email at SDSRegistry-dL@childrens.harvard.edu.

Do you have a patient with SDS?

Updates from the SDS Registry

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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, for developing new treatments. 

Highlights of SDS Registry Publications

2023
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Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: Biological insights and clinical advances.

2022
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Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome

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.

Highlights of SDSR Publications
Highlights of Other Publications from SDSR Researchers

Highlights of Other Publications from SDS Registry Researchers

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

More SDS Registry Publications

Reilly CR, Shimamura A.  Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: Biological insights and clinical advances.  Blood. 2022 Dec 21:blood.2022017739. doi: 10.1182/blood.2022017739. Online ahead of print.PMID: 36542827

Galletta TJ, Loveless SK, Malsch MM, Shimamura A, Myers KC. “Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.” Pediatr Blood Cancer. 2022 May;69(5):e29647. doi: 10.1002/pbc.29647. Epub 2022 Mar 6. PMID: 35253346

Shimamura A.  Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome. Best Pract Res Clin Haematol. 2021 Mar;34(1):101252. doi: 10.1016/j.beha.2021.101252. Epub 2021 Feb 6.PMID: 33762106

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

 

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

 

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 
 

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
 

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

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].
 

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
 

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.

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.
 

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

Other Publications from SDS Registry Investigators and Collaborators Relevant to SDS

Sabulski A, Grier DD, Myers KC, Davies SM, Rubinstein JD. “Acute myeloid leukemia in SRP54-mutated congenital neutropenia.” EJHaem. 2022 Mar 16;3(2):521-525. doi: 10.1002/jha2.413. eCollection 2022 May. PMID: 35846055

 

Duncavage EJ, Bagg A, Hasserjian RP, DiNardo CD, Godley LA, Iacobucci I, Jaiswal S, Malcovati L, Vannucchi AM, Patel KP, Arber DA, Arcila ME, Bejar R, Berliner N, Borowitz MJ, Branford S, Brown AL, Cargo CA, Döhner H, Falini B, Garcia-Manero G, Haferlach T, Hellström-Lindberg E, Kim AS, Klco JM, Komrokji R, Lee-Cheun Loh M, Loghavi S, Mullighan CG, Ogawa S, Orazi A, Papaemmanuil E, Reiter A, Ross DM, Savona M, Shimamura A, Skoda RC, Solé F, Stone RM, Tefferi A, Walter MJ, Wu D, Ebert BL, Cazzola M. Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.  Blood. 2022 Nov 24;140(21):2228-2247. doi: 10.1182/blood.2022015853.PMID: 36130297

Arber DA, Orazi A, Hasserjian RP, Borowitz, MJ, Calvo KR, Kvasnicka H-M, Wang SA, Bagg A, Barbui T, Branford S, Bueso-Ramos CE, Cortes JE, Dal Cin P, DiNardo CD, Dombret H, Duncavage EJ, Ebert BL, Estey EH, Facchetti F, Foucar K, Gangat N, Gianelli U, Godley LA, Gökbuget N, Gotlib J, Hellström-Lindberg E, Hobbs GS, Hoffman R, Jabbour EJ, Kiladjian JJ, Larson RA, Le Beau MM, Loh ML, Löwenberg B, Macintyre E, Malcovati L, Mullighan CG, Niemeyer C, Odenike OM, Ogawa S, Orfao A, Papaemmanuil E, Passamonti F, Porkka K, Pui CH, Radich JP, Reiter A, Rozman M, Rudelius M, Savona MR, Schiffer CA, Annette Schmitt-Graeff A, Shimamura A, Sierra J, Stock WA, Stone RM, Tallman MS, Thiele J, Tien HF, Tzankov A, Vannucchi AM, Vyas P, Wei AH, Weinberg OK, Wierzbowska A, Cazzola M, Döhner H and Tefferi A.  The International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: Integrating Morphological, Clinical, and Genomic Data.  Blood 2022  140(11):1200-1228.

Landspersky T, Saçma M, Rivière J, Hecker JS, Hettler F, Hameister E, Brandstetter K, Istvánffy R, Romero Marquez S, Ludwig R, Götz M, Buck M, Wolf M, Schiemann M, Ruland J, Strunk D, Shimamura A, Myers K, Yamaguchi TP, Kieslinger M, Leonhardt H, Bassermann F, Götze KS, Geiger H, Schreck C, Oostendorp RAJ. Autophagy in mesenchymal progenitors protects mice against bone marrow failure after severe intermittent stress. Blood. 2022 Feb 3;139(5):690-703. doi:10.1182/blood.2021011775. PMID: 34657154; PMCID: PMC8814682.

Malouf C, Loughran SJ, Wilkinson AC, Shimamura A, Río P. Translational research for bone marrow failure patients.  Exp Hematol. 2022 Jan;105:18-21. doi: 10.1016/j.exphem.2021.11.004. PMID: 34801643

Avagyan S,  Shimamura A. Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies. Front Oncol. 2022 Mar 9;12:813149. doi: 10.3389/fonc.2022.813149. eCollection 2022.PMID: 35356204 

Vasu S, Holtan SG, Shimamura A, Burnworth T, Whisenton S, Adams S, Nuechterlein B, Mortier N, Foster J, DiFronzo N, Horowitz M, Rizzo D, Foley A.  Bringing Patient and Caregivers Voices to the Clinical Trial Chorus: A Report From the BMT CTN Patient and Caregiver Advocacy Task Force.  Transplant Cell Ther. 2023 Jan;29(1):5-9. doi: 10.1016/j.jtct.2022.10.016. Epub 2022 Oct 23.PMID: 36283516

Niemeyer CM, Rudelius M, Shimamura A, Flotho C, Hasle H, Stieglitz E, Strahm B, Godley LA, Weinberg OK, Orazi A, Calvo KR.  Classification of rare pediatric myeloid neoplasia-Quo vadis?  Leukemia. 2022 Dec;36(12):2947-2948. doi: 10.1038/s41375-022-01731-w. Epub 2022 Oct 21.PMID: 36271151

Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR.  The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.  Virchows Arch. 2022 Nov 29. doi: 10.1007/s00428-022-03447-9.

Shimamura A.  Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome. Best Pract Res Clin Haematol. 2021 Mar;34(1):101252. doi: 10.1016/j.beha.2021.101252. Epub 2021 Feb 6.PMID: 33762106

 

Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, CipolliM, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R. The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations. Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w. PMID: 34819134

Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, Cipolli M, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R. “The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.” Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w. PMID: 34819134

Landspersky T, Sacma M, Riviere J, Hecker JS, Hettler F, Hameister E, Brandstetter K, Istvanffy R, Romero Marquez S, Ludwig R, Gotz M, Buck MC, Wolf M, Schiemann M, Ruland J, Strunk D, Shimamura A, Myers KC, Yamaguchi TP, Kieslinger M, Leonhardt H, Bassermann F, Gotze KS, Geiger H, Schreck C, Oostendorp RAJ. “Autophagy In Mesenchymal Progenitors Protects Mice Against Bone Marrow Failure After Severe Intermittent Stress.” Blood. 2021 Oct 17:blood.2021011775. doi: 10.1182/blood.2021011775. Online ahead of print. PMID: 34657154

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
 

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]
 

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
 

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
 

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
 

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
 

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
 

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
 

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
 

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 Publications
SDS-Related Review Articles

SDS-Related Review Articles

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

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

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

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

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

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.

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

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

​ 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

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.
 

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.

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

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.

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

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

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

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

Collaborations
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