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Associate Scientist in Genetics, Children's Hospital Boston
Instructor in Pediatrics, Harvard Medical School
Phone: 617-919-4587
Fax: 617-730-0253
Email: hanna.gazda@childrens.harvard.edu
Location:
300 Longwood Avenue
Genetics, Enders 654
Boston, MA 02115
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 the second DBA gene, ribosomal protein S24 (RPS24) mutated in ~2% of DBA patients, and confirmed that DBA is a first human disease caused by mutations in ribosomal proteins. Her goal is to identify other genes involved in DBA, to uncover the pathogenesis of the disease and to generate an animal model for DBA.
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Publications
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Key publications:
1. Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH and Sieff CA. RNA and protein evidence for haploinsufficiency in Diamond-Blackfan anemia patients with RPS19 mutations. Br. J. Haematol 2004; 127:105-13.
2. 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.
3. 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.
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Genetic Studies on Diamond-Blackfan Anemia (DBA)
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