Akiko Shimamura MD

Akiko Shimamura, MD, PhD

Director, Bone Marrow Failure and Myelodysplastic Syndrome Programs

    Contact: 617-919-6109
  • Fax: 617-730-0934

Medical Services

Specialties

  • Bone Marrow Failure Syndromes
  • Aplastic Anemia
  • Myelodysplastic Syndrome (MDS)
  • Cancer Predisposition

Departments

  • Hematology / Oncology

Programs

  • Myelodysplastic Syndrome Specialty Program
  • Bone Marrow Failure Program
  • Genetics Program
To schedule an appointment: Call 617-919-6109 or Request an Appointment
Akiko Shimamura MD

 

Children with rare disorders, such as bone marrow failure and MDS, deserve the same level of medical care and the same chance to live a healthy life as children with more common disorders.  We are striving to identify the causes of bone marrow failure and MDS to develop better treatments for these disorders. We partner with the patient, the family, and the referring physicians to work together as a team to develop and implement an individualized medical plan.  My research spans basic scientific studies and clinical studies with the goal of improving the diagnosis and treatment of patients with bone marrow failure and MDS. Our patients benefit from access to the exciting scientific and clinical advances and cutting edge technologies developed by researchers at Harvard.

Experience and Education

Education

Fellowship

Boston Children’s Hospital and Dana Farber Cancer Institute, 1997

Boston, MA

Medical School

University of Rochester, 1991

Rochester, NY

Residency

Johns Hopkins Hospital, 1994

Baltimore, MD

Certifications

  • Pediatric Hematology/Oncology

Publications

Publications powered by Harvard Catalyst Profiles
  1. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. J Pediatr Hematol Oncol. 2016 Oct; 38(7):e260-2.
  2. Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. 2016 Jul; 45(6):858-62.
  3. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL. Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Sci Transl Med. 2016 May 11; 8(338):338ra67.
  4. Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016 Feb 25; 127(8):1017-23.
  5. Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8.
  6. Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet. 2015 Jun; 11(6):e1005262.
  7. Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015 Feb; 47(2):180-5.
  8. Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015 Jan; 22(1):3-11.
  9. Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M. Spindle microtubule dysfunction and cancer predisposition. J Cell Physiol. 2014 Dec; 229(12):1881-3.
  10. Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015 Jan; 100(1):42-8.
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  12. Ruggero D, Shimamura A. Marrow failure: a window into ribosome biology. Blood. 2014 Oct 30; 124(18):2784-92.
  13. Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, 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 Apr; 164(4):866-70.
  14. Williams DA, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014 May; 61(5):869-74.
  15. Bellodi C, McMahon M, Contreras A, Juliano D, Kopmar N, Nakamura T, Maltby D, Burlingame A, Savage SA, Shimamura A, Ruggero D. H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation. Cell Rep. 2013 May 30; 3(5):1493-502.
  16. Allenspach EJ, Bellodi C, Jeong D, Kopmar N, Nakamura T, Ochs HD, Ruggero D, Skoda-Smith S, Shimamura A, Torgerson TR. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. J Allergy Clin Immunol. 2013 Jul; 132(1):223-6.
  17. Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013 Feb; 27(1):117-28, ix.
  18. Burwick N, Coats SA, Nakamura T, Shimamura A. Impaired ribosomal subunit association in Shwachman-Diamond syndrome. Blood. 2012 Dec 20; 120(26):5143-52.
  19. Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM. Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer. 2012 Nov; 59(5):945-6.
  20. Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012 Feb 2; 119(5):1283-91.
  21. Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec; 1242:40-55.
  22. Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA. Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Am J Med Genet A. 2011 Jul; 155A(7):1673-9.
  23. Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link DC, Newburger PE, Shimamura A, Welte K, Dale DC. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010 Jul; 150(2):196-9.
  24. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010 May; 24(3):101-22.
  25. Tulpule A, Lensch MW, Miller JD, Austin K, D'Andrea A, Schlaeger TM, Shimamura A, Daley GQ. Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage. Blood. 2010 Apr 29; 115(17):3453-62.
  26. 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.
  27. Shimamura A. Clinical approach to marrow failure. Hematology Am Soc Hematol Educ Program. 2009; 329-37.
  28. Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood. 2009 Jan 8; 113(2):309-16.
  29. Shimamura A. Diamond-Blackfan anemia: a new facet. Blood. 2008 Sep 1; 112(5):1552-3.
  30. 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.
  31. Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008 May; 141(3):376-87.
  32. Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008 Apr; 118(4):1511-8.
  33. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007 Sep 1; 110(5):1458-65.
  34. Kennedy RD, Chen CC, Stuckert P, Archila EM, De la Vega MA, Moreau LA, Shimamura A, D'Andrea AD. Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated. J Clin Invest. 2007 May; 117(5):1440-9.
  35. Shimamura A. Shwachman-Diamond syndrome. Semin Hematol. 2006 Jul; 43(3):178-88.
  36. Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematology Am Soc Hematol Educ Program. 2006; 63-71.
  37. Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005 Aug 15; 106(4):1253-8.
  38. Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socié G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood. 2005 Feb 1; 105(3):1329-36.
  39. Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood. 2004 Apr 1; 103(7):2554-9.
  40. Shimamura A, D'Andrea AD. Subtyping of Fanconi anemia patients: implications for clinical management. Blood. 2003 Nov 1; 102(9):3459.
  41. D'Andrea AD, Dahl N, Guinan EC, Shimamura A. Marrow failure. Hematology Am Soc Hematol Educ Program. 2002; 58-72.
  42. Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9.
  43. Parmar K, Kim J, Sykes SM, Shimamura A, Stuckert P, Zhu K, Hamilton A, Deloach MK, Kutok JL, Akashi K, Gilliland DG, D'andrea A. Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1. Stem Cells. 2010 Jul; 28(7):1186-95.
  44. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep; 142(6):859-76.
  45. Huang JN, Shimamura A. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol. 2011 Jan; 18(1):30-5.
  46. 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.
  47. Shimamura A, Montes de Oca R, Svenson JL, Haining N, Moreau LA, Nathan DG, D'Andrea AD. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood. 2002 Dec 15; 100(13):4649-54.
  48. Marro K, Otto R, Kolokythas O, Shimamura A, Sanders JE, McDonald GB, Friedman SD. A simulation-based comparison of two methods for determining relaxation rates from relaxometry images. Magn Reson Imaging. 2011 May; 29(4):497-506.
  49. 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 Sep 5; 134(5):877-86.
  50. Burroughs LM, Nemecek ER, Torgerson TR, Storer BE, Talano JA, 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: a prospective multicenter trial. Biol Blood Marrow Transplant. 2014 Dec; 20(12):1996-2003.
  51. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009 Apr; 23(2):233-48.
  52. 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 Jun 6; 12(6):727-36.
  53. 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.
  54. Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A. Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer. 2015 Nov; 62(11):2047-9.
  55. Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 02; 98(6):1146-58.
  56. Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev. 2016 Oct 13.
  57. 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.
  58. Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2016 Oct 20.
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