Overview
This page is dedicated to the Bone Marrow Failure, Myelodysplastic Syndrome, and Leukemia Predisposition research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Bone Marrow Failure, Myelodysplastic Syndrome, and Leukemia Predisposition research study, established at Boston Children’s in 2022 and led by Dr. Akiko Shimamura, has already enrolled 21 patients and their families. The study aims to identify genetic causes of these disorders and provide personalized medicine.
Disease Information
Bone marrow failure (BMF), myelodysplastic syndrome (MDS), and leukemia predisposition are disorders that affect the blood and bone marrow, leading to reduced and insufficient production of platelets, red blood cells, or white blood cells. Learn more about BMF, MDS, and leukemia predisposition at Boston Children’s.
It is estimated that 30-50% of individuals with BMF, 10-20% of individuals with MDS, and 5-15% of individuals with leukemia predisposition have an underlying genetic cause for their condition. In her interview on Youtube: Dr. Akiko Shimamura on Rare Pediatric Blood Disorders | Dana-Farber/Boston Children’s, Dr. Shimamura discusses the advantages of the rapid integration of cutting-edge research at Boston Children’s into medical care, the direct impact it has on treatment, and her “never give up” approach to finding diagnoses for her patients.
Key Outcomes
In a recent analysis, 15% of patients received a clinical diagnosis, of whom 67% had a change in treatment plans, and an additional 15% of patients had candidate findings that are being further researched.
Genes of Interest
ADA2 AIRE ALDOB AMN ANKRD26 BCOR BRIP1 CECR1 CHEK2 CSF3R CTC1 DDX41 DKC1 DNAH11 ELA2 ELANE F13A1 FANCA FANCB FANCC FANCD1/BRCA2 FANCD2 FANCE FANCG FANCI FANCM FBN1 GATA2 GFI1 GP1BA GT1 JAGN1 LCP1 MECOM MPL MT-CYB MTR NHP2 NOTCH1 PALB2 PARN RPL11 RPL35A RPL5 RPS19 RPS24 RPS26 RTEL1 RUNX1 SAMD9 SBDS SLFN14 SLX4 SPINK1 SRP54 TERC TERT TINF2 TINF2A TP53 VPS13B VPS45
Participate in Research
Physicians may refer their patients with diagnoses of bone marrow failure to Dr. Shimamura. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Shimamura’s studies, including the Bone Marrow Failures study, on the Shimamura Lab website.
Patient Care
Patients and their families with BMF, MDS, or leukemia predisposition can be seen by an expert multidisciplinary team in the Cancer and Blood Disorders Center at Boston Children’s. Learn more about BMF, MDS, and leukemia predisposition.
Investigator
Divisions
Notable Publications by Investigator
Lessons from pediatric MDS: approaches to germline predisposition to hematologic malignancies
Disease Support Organizations
Aplastic Anemia & MDS International Foundation
Aplastic Anemia and MDS International Foundation is a nonprofit organization serving the aplastic anemia, myelodysplastic disease syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure disease communities. AAMDSIF empowers patients and their families, invests in research that speeds the search for new treatments and potential cures, promotes high-quality care by educating healthcare providers, and ensures our patients’ voices are heard through awareness and advocacy.
Fanconi Cancer Foundation
The Fanconi Cancer Foundation aims to harness hope through the funding of scientific research, advocacy, education, and support services for individuals and families affected by FA and associated cancers.
Leukemia & Lymphoma Society
The Leukemia & Lymphoma Society (LLS) is a global leader in the fight against blood cancer. The LLS mission: Cure leukemia, lymphoma, Hodgkin disease and myeloma, and improve the quality of life of patients and their families. LLS funds lifesaving blood cancer research around the world, provides free information and support services, and is the voice for all blood cancer patients seeking access to quality, affordable, coordinated care.
Shwachman-Diamond Syndrome Foundation
Shwachman-Diamond Syndrome Foundation is a national, not-for-profit organization that advocates for and funds research toward improved treatment and a cure. It also provides educational services and emotional support to SDS families.
Team Telomere
Team Telomere is a nonprofit organization whose mission is to empower individuals worldwide impacted by Telomere Biology Disorders with information and support services, to advance improved diagnosis through education and advocacy, and to accelerate the medical and scientific community’s research in finding causes, effective treatments, and a path towards a cure.
The Champ Foundation
The Champ Foundation supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.
MDS Foundation
The MDS Foundation is a global nonprofit advocacy organization that for over 30 years has supported patients and their families as well as healthcare providers in the fields of MDS and its related diseases.
National Neutropenia Network
The National Neutropenia Network promotes awareness, education, and research and provides a support system for patients with severe chronic neutropenia (SCN) and their families through a national resource network.
RUNX1 Research Program
The RUNX1 Research Program (RRP) is a nonprofit organization and the only group worldwide committed to leading advocacy and advancing research for families impacted by RUNX1 familial platelet disorder (RUNX1-FPD).
Fanconi Hope
Fanconi Hope is a nonprofit organization in the UK whose mission is to support research and provide assistance to families affected by Fanconi Anemia.
Aplastic Anemia & Myelodysplasia Association of Canada
AAMAC is a nonprofit organization and support network for Canadians affected by aplastic anemia, myelodysplasia, and paroxysmal nocturnal hemoglobinuria