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Colin Sieff, MB, BCh

Colin Sieff MD BCh
Research Center:
Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Medicine Research
Hematology/Oncology Research
Hospital Title:
Senior Associate in Medicine
Academic Title:
Associate Professor of Pediatrics, Harvard Medical School
Research Focus Area:
Diamond-Blackfan Anemia (DBA)
Contact Via Email
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Research Overview

The major interest of the Sieff laboratory is the molecular pathogenesis and treatment of certain inherited syndromes of bone marrow failure, particularly Diamond-Blackfan anemia (DBA), which is a congenital disease due to failure of production of red blood cells (erythrocytes) and their precursors.

Recent genetic studies have led to the identification of mutations in a ribosomal protein gene, RPS19, in about 25% of cases. Sieff and his colleagues Hanna Gazda and Alan Beggs have found evidence for involvement of at least 9 other genes, and experiments focus on genetic studies to identify other DBA genes. Surprisingly, GATA1, an essential erythroid transcription factor, was found to be mutated in a small proportion of patients without RP gene mutations.

Other laboratory studies focus on depletion of ribosomal proteins in mouse fetal liver cells to determine why insufficiency of ribosomal proteins, which is characteristic of patients with DBA, leads to red cell failure. In acquired aplastic anemia, studies focus on making, characterizing and comparing induced pluripotent stem cells derived from skin and bone marrow cells.

Clinical studies in bone marrow failure patients include a study to investigate the safety and efficacy of danazol in patients with Fanconi anemia and Dyskeratosis congenita. This study has opened and is recruiting patients.

Aplastic anemia is an acquired failure of blood cell production. The underlying cause is not well understood, and laboratory studies focus on using novel technology to make induced pluripotent stem cells from both fibroblasts and blood forming cells of patients with severe aplastic anemia, to compare their genetic profiles.

About Colin Sieff

Colin Sieff received his MB.BCh. from the University of the Witwaterswand, Johannesburg, South Africa, in 1968. He trained in hematology at The Royal Marsden, St. George's Hospital and The Royal Free Hospital, and in pediatric hematology at the Hospital for Sick Children in London. He was named Claudia Adams Barr Program Investigator in Innovative Basic Cancer Research at Dana-Farber Cancer Institute in 1999. He directs the bone marrow failure program.

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Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

Dana-Farber/Boston Children's Cancer and Blood Disorders Center is one of the top research centers in the world for pediatric cancers and blood diseases. It brings together laboratory scientists and clinical researchers from Dana-Farber Cancer Institute and Boston Children’s Hospital in a single program. We investigate pediatric cancers and non-malignant blood disorders from every angle—from examining cells under the microscope to tracking the effectiveness of current drug regimens using the most advanced molecular methods—so that we can create better treatments for children seen here and around the world.

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