• KOL
    • Blackfan Anemia
    • Hanna T Gazda
    • Hanna T Gazda: Influence Statistics

      Hanna T Gazda

      Hanna T Gazda

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      Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA | Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard ...

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      Hanna T Gazda:Expert Impact

      Concepts for whichHanna T Gazdahas direct influence:Blackfan anemia,Ribosomal protein,Dba patients,Patients dba,Rp genes,Diamondblackfan anemia,Rps19 mutations,Anemia dba.

      Hanna T Gazda:KOL impact

      Concepts related to the work of other authors for whichfor which Hanna T Gazda has influence:Ribosome biogenesis,Ribosomal proteins,Blackfan anemia,Bone marrow,Protein synthesis,Stem cell,Dba patients.

      KOL Resume for Hanna T Gazda

      Year
      2020

      Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA

      2019

      Broad Institute of MIT and Harvard, Cambridge, MA, USA

      Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA

      2018

      Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA

      2017

      Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.

      Harvard Medical School, Boston, MA, USA

      2016

      Boston Children's Hospital, Boston, USA

      2015

      Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA Broad Institute, Cambridge, MA 02142, USA

      2014

      Broad Institute, Cambridge, MA

      Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA

      Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America

      2013

      Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA, USA

      2012

      Broad Institute, Cambridge, Massachusetts, USA., Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA., Department of Medicine, Children’s Hospital Boston, Boston, Massachusetts, USA., Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Department of Pathology, and, Division of Hematology/Oncology, Children’s Hospital Boston, Boston, Massachusetts, USA., Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA., Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

      Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w

      2011

      Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA; and

      2010

      Harvard Medical School, Boston, MA 02115, USA

      Children's Hospital Boston, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston, Massachusetts

      2009

      Division of Genetics and Program in Genomics, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA,

      2008

      Division of Genetics and Program in Genomics, Children's Hospital Boston, MA;

      Genetics and Program in Genomics, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

      2006

      Department of Pediatrics, Harvard Medical School, Boston

      2005

      Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA

      2004

      Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston

      2003

      Genetics and

      Harvard Medical School, Boston, MA 02115

      2002

      Genetics Division, Children's Hospital, Harvard Medical School, Boston

      2001

      Division of Pediatric Hematology and Oncology, Dana Farber Cancer Institute and Children's Hospital, Boston, Massachusetts 02115, USA.

      2000

      *Département de Pédiatrie et Laboratoire d’Hématologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, et Faculté Médicine Paris Sud, UniversitéParis XI, 94275 Bicêtre, France. Life Science Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA. †Division of Pediatric Hematology and Oncology, Dana-Farber Cancer Institute and Children’s Hospital, Boston, Massachusetts, USA. ‡Division of Genetics, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA. §Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA

      1998

      Medical Academy Warsaw, Department of Paediatrics, Haematology and Oncology, Warsaw, Poland,

      1993

      Kliniki i Katedry Pediatrii, Hematologii i Onkologii Ak. Med., Warszawie.

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      Sample of concepts for which Hanna T Gazda is among the top experts in the world.
      Concept World rank
      genes diamond #1
      phenotypes ribosomopathies #1
      rps19 rps24 #1
      patients blackfan anemia #1
      mutations ribosomal #1
      pathophysiology dba #1
      blackfan base #1
      mutations rpl11 #1
      rps24 #1
      autophagy s6 #1
      s6 kinase inhibition #1
      rps24 rps17 #1
      relative rarity patients #1
      rpdeficient cells #1
      dba congenital #1
      dba mutations #1
      rpdeficiency #1
      mtdna deletion testing #1
      dbalinked rps19 gene #1
      ribosome lead #1
      blackfan gata1 #1
      untranslated regions anemia #1
      dba genetic studies #1
      dba rps19 #1
      rps24 alleles #2
      ribosomopathies diamond #2
      rps dba #2
      dba complete knockout #2
      dba animal #2
      advantage rnai technology #2
      protein dba #2
      rps19 mutations #2
      recurrent gata1 #2
      rpl11 overlap #2
      shrna rpl5 mice #2
      rps19 25 #2
      drug testing therapies #2
      translation branched #2
      rps24 heterozygous mice #2
      dba patients study #2
      s24 heterozygous mice #2
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      Prominent publications by Hanna T Gazda

      KOL-Index: 12063

      Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb, heart, and urinary system defects that are present in approximately 30%-50% of ...

      Known for Ribosomal Protein | Blackfan Anemia | Rps10 Rps26 | Dba Mutations | Rp Genes
      KOL-Index: 11786

      Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital anomalies that are present in approximately 30%-50% of patients. The disease has been associated with mutations in four ribosomal protein (RP) genes, RPS19, RPS24, RPS17, ...

      Known for Cleft Palate | Anemia Patients | Rpl5 Rpl11 | Ribosomal Protein L5 | Rp Genes
      KOL-Index: 11005

      Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially linked to disorders in ribosome biogenesis. Three genes encoding ribosomal proteins have been associated to DBA: after RPS19, mutations in genes RPS24 and RPS17 were recently identified in a fraction of the patients. Here, we show that cells from patients carrying mutations in RPS24 have defective pre-rRNA ...

      Known for Ribosome Biogenesis | Blackfan Anemia | Rps19 Rps24 | Posttranscriptional Rna | Ribosomal Proteins
      KOL-Index: 10742

      Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. We used a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray in the analysis of 2 DBA patients with chromosome 3q deletions to identify RPL35A as a potential DBA gene. Sequence analysis ...

      Known for Ribosomal Subunit | Blackfan Anemia | Posttranscriptional Rna | Sequence Analysis | Cancer Predisposition
      KOL-Index: 10444

      Diamond-Blackfan anemia (DBA) is a broad developmental disease characterized by anemia, bone marrow (BM) erythroblastopenia, and an increased incidence of malignancy. Mutations in ribosomal protein gene S19 (RPS19) are found in approximately 25% of DBA patients; however, the role of RPS19 in the pathogenesis of DBA remains unknown. Using global gene expression analysis, we compared highly purified multipotential, erythroid, and myeloid BM progenitors from RPS19 mutated and control ...

      Known for Ribosomal Protein | Blackfan Anemia | Gene Expression | Rps19 Mutations | Erythroid Cells
      KOL-Index: 9773

      Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T cell leukemia. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type- and tissue-specific defects remains unknown. Here, we identify mutations in GATA1, encoding the critical hematopoietic transcription factor GATA-binding protein-1, that reduce levels of full-length GATA1 protein and cause DBA in rare ...

      Known for Blackfan Anemia | Dba Mutations | Ribosomal Proteins | Gata1 Protein | Congenital Asplenia
      KOL-Index: 9138

      Diamond-Blackfan anemia (DBA) is an inherited form of pure red cell aplasia that usually presents in infancy or early childhood and is associated with congenital malformations in ∼30-50% of patients. DBA has been associated with mutations in nine ribosomal protein (RP) genes in about 53% of patients. We completed a large-scale screen of 79 RP genes by sequencing 16 RP genes (RPL3, RPL7, RPL8, RPL10, RPL14, RPL17, RPL19, RPL23A, RPL26, RPL27, RPL35, RPL36A, RPL39, RPS4X, RPS4Y1, and ...

      Known for Ribosomal Rna | Blackfan Anemia | Frameshift Mutation | Patients Dba | Physical Abnormalities
      KOL-Index: 8664

      Diamond–Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retardation and craniofacial, upper limb, heart and urinary system congenital malformations in ~30–50 % of cases. The disease has been associated with point mutations and large ...

      Known for Blackfan Anemia | Ribosomal Rna | Rp Genes | Comparative Genomic | Large Deletions
      KOL-Index: 8395

      Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form ...

      Known for Gata1 Mutation | Exome Sequencing | Impaired Production | Diamondblackfan Anemia | Splice Site
      KOL-Index: 8090

      The genetic basis of Diamond-Blackfan anaemia (DBA), a congenital erythroid hypoplasia that shows marked clinical heterogeneity, remains obscure. However, the fact that nearly one-quarter of patients harbour a variety of mutations in RPS19, a ribosomal protein gene, provides an opportunity to examine whether haplo-insufficiency of RPS19 protein can be demonstrated in certain cases. To that end, we identified 19 of 81 DBA index cases, both familial and sporadic, with RPS19 mutations. We ...

      Known for Rps19 Mutations | Blackfan Anaemia | 10 Patients | Genetic Basis | Ribosomal Protein
      KOL-Index: 7943

      Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA). RPs and multiple other factors are necessary for the processing of pre-rRNA, the assembly of ribosomal subunits, their export to the cytoplasm and for the final assembly of subunits into a ribosome. Haploinsufficiency of certain RPs causes DBA, whereas ...

      Known for Ribosomal Proteins Rps | Animal Models | Underlying Defects | Multiple Factors | Blackfan Anemia
      KOL-Index: 7706

      Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the mutation of ribosomal protein (RP) genes. Here we show the knock-down of the DBA-linked RPS19 gene induces the cellular self-digestion process of autophagy, a pathway critical for proper hematopoiesis. We also observe an increase of autophagy ...

      Known for Ribosomal Protein | Dba Patients | Growth Defects | Blackfan Anemia | Autophagy Pathway
      KOL-Index: 7420

      Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell production. Because many DBA patients fail to respond to corticosteroid therapy, there is considerable need for therapeutics for this disorder. Identifying therapeutics for DBA requires circumventing the paucity of primary patient blood stem and progenitor cells. To this end, we adopted a reprogramming strategy to generate ...

      Known for Drug Discovery | Blackfan Anemia | Stem Cells | Dba Patients | Erythroid Differentiation
      KOL-Index: 6647

      Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this heterogeneous disorder, we recruited a cohort of 472 individuals with a clinical diagnosis of DBA and performed whole-exome sequencing (WES). We identified relevant rare and predicted damaging mutations for 78% of individuals. The majority of mutations ...

      Known for Genetic Landscape | Blackfan Anemia | Rp Genes | Rare Mutations | Ribosomal Protein
      KOL-Index: 6410

      Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six ...

      Known for Blackfan Anemia | Genes Ribosomal Proteins | Dba Mutation | Incomplete Penetrance | Erythroid Progenitors

      Key People For Blackfan Anemia

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      Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA | Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115 USA | Broad Institute of MIT and Harvard,

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