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Hanna T. Gazda, MD, PhD

Hanna T Gazda
Research Center:
The Manton Center for Orphan Disease Research
Department:
Medicine Research
Division
Genetics and Genomics Research
Hospital Title:
Principal Investigator
Academic Title:
Assistant Professor in Pediatrics, Harvard Medical School
Research Focus Area:
Diamond-Blackfan Anemia (DBA)
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Research Overview

Hanna Gazda's research focuses on identifying the genetic causes and molecular pathogenesis of Diamond-Blackfan anemia (DBA), a bone marrow failure characterized by anemia, bone marrow erythroblastopenia and congenital abnormalities. The first DBA gene, ribosomal protein S19, was found to be mutated in ~25% of DBA patients. Gazda and colleagues recently identified four other genes, RPS24, RPL5, RPL11, and RPS7, mutated in ~15% of DBA patients, and confirmed that DBA is a first human disease caused by mutations in ribosomal proteins. 

They also discovered the first known correlation between mutations in certain genes and particular clinical findings. In particular, mutations in RPL5 are associated with multiple physical abnormalities including cleft lip/cleft palate, thumbs and heart anomalies, while isolated thumb malformations are predominantly present in patients carrying mutations in RPL11. 

The laboratory’s current goal is to identify other genes involved in DBA, to uncover the pathogenesis of the disease and to generate an animal model for DBA. For more information on participating in this clinical research study, please follow the link below: Genetic Studies on Diamond-Blackfan Anemia (DBA)

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RELATED RESEARCH CENTER

The Manton Center for Orphan Disease Research

Founded in 2008, the Manton Center is the first center in the world solely devoted to the study of rare diseases. Senior scientists in residence specialize in a wide range of areas including metabolic, neuromuscular, neurologic and immune disorders. The Center also awards fellowships and research grants to help launch the careers of rare disease specialists, and to facilitate the discovery and development of more effective therapies for rare diseases.


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