Hanna T. Gazda, MD, PhD
| Department | Genetics |
 |
| Hospital Title | Principal Investigator | |
| Academic Title | Instructor in Pediatrics | |
| Phone | 617-919-4587 | |
| Fax | 617-730-0253 | |
| Hanna T. Gazda | ||
| Location |
300 Longwood Avenue Enders 654 Boston MA 02115 |
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)
Key Publications
- Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH. Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond-Blackfan Anemia. Stem Cells 2006; 9:2034-2044.
- Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, and Sieff CA. Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia. Am. J. Hum. Genet. 2006; 79:1110-1118.
- Gazda HT, Teen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008;83:769-80.
