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Children's Hospital Boston has a long history of research and innovation in conditions associated with bone marrow failure. The initial studies that described disorders such as Shwachman-Diamond syndrome and Diamond-Blackfan anemia were conducted here.
Today, Children's researchers are conducting some of the world's leading-edge studies of bone marrow failure syndromes. We believe research into this condition offers significant opportunities for improving treatment therapies. Studies are currently underway in the following areas:
Fanconi Anemia
Principal Investigator: Dr. Alan D'Andrea, Department of Radiation Oncology, Dana Farber Cancer Institute
Dr. D'Andrea's laboratory, located at Dana Farber Cancer Institute, is a leading research center for Fanconi anemia. Researchers are investigating the molecular basis for Fanconi anemia as well as other chromosomal breakage syndromes such as ataxia-telangiectasia, Nijmegen breakage syndrome, and Seckel syndrome. They are also exploring targeted therapies to treat Fanconi anemia. Investigators in this lab are responsible for identifying important interactions between the biochemical pathway for Fanconi anemia and DNA repair and tumor suppressor pathways. This laboratory is recognized world-wide for its work on the molecular mechanisms that contribute to cancer development and Fanconi anemia.
Principal Investigator: Dr. Akiko Shimamura, Department of Hematology and Oncology, Children's Hospital Boston and Dana Farber Cancer Institute.
Dr. Shimamura's group is working in collaboration with Dr. D'Andrea to develop a new screening test for Fanconi anemia that measures a protein called FANCD2. Dr. Shimamura and Dr. Brian Labow, a hand surgeon, are studying the relationship between Fanconi anemia and hand anomalies.
Shwachman-Diamond Syndrome
Principal Investigator: Dr. Akiko Shimamura, Department of Hematology and Oncology, Children's Hospital Boston and Dana Farber Cancer Institute
A center of promising research in this disorder, scientists in this laboratory are
conducting molecular studies of SBDS, the gene responsible for Shwachman-Diamond syndrome. Researchers are exploring the cellular function of SBDS, its contribution to blood cell production and leukemia, and working to identify additional SDS genes and subtypes. Investigators are also working to develop an animal model of the disorder and establishing a patient sample repository to aid future studies.
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