Akiko Shimamura, MD, PhD
Director, Bone Marrow Failure and Myelodysplastic Syndrome Program
Professor of Pediatrics, Harvard Medical School
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Akiko Shimamura, MD, PhD
Director, Bone Marrow Failure and Myelodysplastic Syndrome Program
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
University of Rochester
1991
Rochester
NY
Residency
Johns Hopkins Hospital
1994
Baltimore
MD
Fellowship
Boston Children’s Hospital and Dana Farber Cancer Institute
1997
Boston
MA
Professional History
Dr. Shimamura serves as an expert for the Department of Medicine for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
Approach to Care
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.
Publications
Lymphoid malignancies in patients with Shwachman-Diamond syndrome. View Abstract
ANKRD26-related Thrombocytopenia 2 with a Baseline Increase in Blasts: Implications for Clinical Surveillance. View Abstract
Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: Phase 2 ESCALATE trial. View Abstract
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. View Abstract
Genetic Predisposition to Hematologic Malignancies. View Abstract
A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation. View Abstract
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia. View Abstract
Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE : Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia. View Abstract
A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome. View Abstract
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement. View Abstract
The ASPHO 2024 Distinguished Career Award goes to Dr. David A. Williams. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. View Abstract
Treatment of recurrent pediatric myelodysplastic syndrome post hematopoietic stem cell transplantation. View Abstract
Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. View Abstract
Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review. View Abstract
RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia. View Abstract
Impact of cytoreduction and remission status on hematopoietic cell transplantation outcomes in pediatric myelodysplastic syndrome and related disorders. View Abstract
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia. View Abstract
The Times, They Are A-Changing: The Impact of Next-Generation Sequencing on Diagnosis, Classification, and Prognostication of Myeloid Malignancies With Focus on Myelodysplastic Syndrome, AML, and Germline Predisposition. View Abstract
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. View Abstract
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. View Abstract
The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia. View Abstract
Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia. View Abstract
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities. View Abstract
Bringing Patient and Caregivers Voices to the Clinical Trial Chorus: A Report From the BMT CTN Patient and Caregiver Advocacy Task Force. View Abstract
Classification of rare pediatric myeloid neoplasia-Quo vadis? View Abstract
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. View Abstract
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. View Abstract
Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. View Abstract
Telomere biology disorders: ends and (genetic) means. View Abstract
Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies. View Abstract
Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome. View Abstract
Autophagy in mesenchymal progenitors protects mice against bone marrow failure after severe intermittent stress. View Abstract
Hematologic complications with age in Shwachman-Diamond syndrome. View Abstract
Association of unbalanced translocation der(1;7) with germline GATA2 mutations. View Abstract
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations. View Abstract
Translational research for bone marrow failure patients. View Abstract
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. View Abstract
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns. View Abstract
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium. View Abstract
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. View Abstract
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. View Abstract
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. View Abstract
Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome. View Abstract
Dissecting ELANE neutropenia pathogenicity by human HSC gene editing. View Abstract
Inhibition of TGFß1 and TGFß3 promotes hematopoiesis in Fanconi anemia. View Abstract
Repolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome. View Abstract
An induced pluripotent stem cell model of Fanconi anemia reveals mechanisms of p53-driven progenitor cell differentiation. View Abstract
MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia. View Abstract
Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium. View Abstract
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. View Abstract
Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype. View Abstract
Author Correction: On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology. View Abstract
On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology. View Abstract
Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. View Abstract
Genetic predisposition to MDS: diagnosis and management. View Abstract
Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia. View Abstract
TGFß signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome. View Abstract
Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells. View Abstract
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. View Abstract
Genetic predisposition to MDS: clinical features and clonal evolution. View Abstract
Neutropenia in the age of genetic testing: Advances and challenges. View Abstract
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. View Abstract
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). View Abstract
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. View Abstract
It's ALL in the Family: IKZF1 and Hereditary Leukemia. View Abstract
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. View Abstract
Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage. View Abstract
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. View Abstract
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. View Abstract
Alteration of molecular assembly of peroxiredoxins from hyperthermophilic archaea. View Abstract
Somatic mutations and clonal hematopoiesis in congenital neutropenia. View Abstract
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. View Abstract
Pregnancy outcomes in inherited bone marrow failure syndromes. View Abstract
Genetic predisposition to hematologic malignancies: management and surveillance. View Abstract
Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders. View Abstract
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin. View Abstract
ETV6 in hematopoiesis and leukemia predisposition. View Abstract
Germline Genetic Predisposition to Hematologic Malignancy. View Abstract
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. View Abstract
The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma. View Abstract
Aplastic anemia and clonal evolution: germ line and somatic genetics. View Abstract
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. View Abstract
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. View Abstract
Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. View Abstract
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. View Abstract
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. View Abstract
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. View Abstract
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. View Abstract
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. View Abstract
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. View Abstract
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. View Abstract
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. View Abstract
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. View Abstract
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. View Abstract
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. View Abstract
Spindle microtubule dysfunction and cancer predisposition. View Abstract
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. View Abstract
Marrow failure: a window into ribosome biology. View Abstract
Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial. View Abstract
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. View Abstract
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). View Abstract
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation. View Abstract
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. View Abstract
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. View Abstract
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. View Abstract
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. View Abstract
Breast cancer in a case of Shwachman Diamond syndrome. View Abstract
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. View Abstract
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. View Abstract
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. View Abstract
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. View Abstract
A simulation-based comparison of two methods for determining relaxation rates from relaxometry images. View Abstract
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. View Abstract
SBDS protein expression patterns in the bone marrow. View Abstract
Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1. View Abstract
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. View Abstract
Pathophysiology and management of inherited bone marrow failure syndromes. View Abstract
Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage. View Abstract
Congenital disorders of ribosome biogenesis and bone marrow failure. View Abstract
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. View Abstract
Clinical approach to marrow failure. View Abstract
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. View Abstract
Diamond-Blackfan anemia: a new facet. View Abstract
Disease-specific induced pluripotent stem cells. View Abstract
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. View Abstract
Expression of the Shwachman-Bodian-Diamond syndrome (SBDS) protein in human pancreatic cancer and chronic pancreatitis. View Abstract
Ribosomal dysfunction and inherited marrow failure. View Abstract
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. View Abstract
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. View Abstract
Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated. View Abstract
Shwachman-Diamond syndrome. View Abstract
Inherited bone marrow failure syndromes: molecular features. View Abstract
The Shwachman-Diamond SBDS protein localizes to the nucleolus. View Abstract
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. View Abstract
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. View Abstract
Subtyping of Fanconi anemia patients: implications for clinical management. View Abstract
A novel diagnostic screen for defects in the Fanconi anemia pathway. View Abstract
Marrow failure. View Abstract
Source memory enhancement for emotional words. View Abstract
The Ponzo illusion and the perception of orientation. View Abstract
An analysis of signal detection and threshold models of source memory. View Abstract
Differential effects of cue dependency on item and source memory. View Abstract
Toward a cognitive neuroscience of metacognition. View Abstract
Retrieval-induced forgetting in episodic memory. View Abstract
Monitoring item and source information: evidence for a negative generation effect in source memory. View Abstract
On the recollection of specific- and partial-source information. View Abstract
Letter and category fluency in patients with frontal lobe lesions. View Abstract
Mapping symbols to response modalities: interference effects on Stroop-like tasks. View Abstract
Impaired word-stem priming in patients with temporal-occipital lesions. View Abstract
Memory and the prefrontal cortex. View Abstract
Serial position effects in implicit and explicit tests of memory. View Abstract
Cognitive neuropsychology is more than single-case studies. View Abstract
On the relationship between recall and recognition memory. View Abstract
Intact text-specific reading skill in amnesia. View Abstract
Impaired priming of new associations in amnesia. View Abstract
Long-term memory in amnesia: cued recall, recognition memory, and confidence ratings. View Abstract
A neuropsychological study of fact memory and source amnesia. View Abstract
Strength and duration of priming effects in normal subjects and amnesic patients. View Abstract
Memory and metamemory: a study of the feeling-of-knowing phenomenon in amnesic patients. View Abstract
Priming across modalities and priming across category levels: extending the domain of preserved function in amnesia. View Abstract
Independence of recognition memory and priming effects: a neuropsychological analysis. View Abstract