50th ASH Annual Meeting and Exposition (December 6

Sunday, December 7, 2008: 4:30 PM-6:00 PM

Gateway Ballroom 104 - South (Moscone Center)

Moderators:

Philip J. Mason and Kim Smith-Whitley, MD

4:30 PM

Aberrant p53 Signaling Pathways in RPL11 Mutant Zebrafish

Nadia Danilova, Ph.D.¹^*, Kenji Morimoto, M.D.²^*, Kathleen M Sakamoto, M.D., Ph.D.³ and Shuo Lin, Ph.D.¹^*

¹Molecular, Cellular, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA
²Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA
³Pediatrics, David Geffen School of Medicine, University of California - Los Angeles, Los Angeles, CA

4:45 PM

A Mouse Model for Diamond-Blackfan Anemia Demonstrates a Dominant Negative Effect of a Point Mutation in the RPS19 Gene

Emily E. Devlin, BA¹^*, Lydie DaCosta²^*, Mohandas Narla, DSc³, Gene Elliott⁴^* and David M. Bodine, PhD¹

¹Nhgri, Hematopoiesis Section, GMBB, Bethesda, MD
²IGR Gustave Roussey Institute, Paris, France
³New York Blood Center, New York, NY
⁴Nhgri, Transgenic Mouse Core Facility, Bethesda, MD

5:00 PM

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Hanna T. Gazda¹, Mee Rie Sheen²^*, Adrianna Vlachos³, Valerie Choesmel⁴^*, Marie-Francoise O'Donohue⁴^*, Hal Schneider²^*, Natasha Darras²^*, Catherine Hasman²^*, Colin A. Sieff⁵, Peter E. Newburger⁶, Sarah Ball⁷^*, Edyta Niewiadomska⁸^*, Michal Matysiak⁸^*, Jan M. Zaucha⁹^*, Bertil Glader¹⁰, Charlotte Niemeyer¹¹, Joerg J. Meerpohl¹¹^*, Eva Atsidaftos³^*, Jeffrey M. Lipton³^*, Pierre-Emmanuel Gleizes⁴^* and Alan H. Beggs¹^*

¹Division of Genetics and Program in Genomics, Children's Hospital Boston, Harvard Medical School, Boston, MA
²Division of Genetics and Program in Genomics, Children's Hospital Boston, Boston, MA
³The Feinstein Institute for Medical Research, Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Schneider Children's Hospital, New Hyde Park, NY
⁴Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, CNRS, UMR 5099, Toulouse, France
⁵Division of Pediatric Hematology, Children's Hospital Boston, Harvard Medical School, Boston, MA
⁶Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA
⁷Department of Paediatrics, Imperial College, London, United Kingdom
⁸Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland
⁹Department of Hematology, University Medical School, Gdansk, Poland
¹⁰Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Palo Alto, CA
¹¹Division of Paediatric Haematology and Oncology, Department of Paediatrics, University of Freiburg, Freiburg, Germany

5:15 PM

Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report

Philip S. Rosenberg, PhD¹, Neelam Giri, MD¹, Sharon A Savage, MD, FAAP² and Blanche P. Alter, MD, MPH³

¹National Cancer Institute, Rockville, MD
²Division of Cancer Epidemiology and Gene, National Cancer Institute, Bethesda, MD
³Clinical Genetics Branch, National Cancer Institute, Rockville, MD

5:30 PM

Assessment of SBDS expression patterns in human bone marrow by immunohistochemistry and its use as a diagnostic screen for Shwachman-Diamond Syndrome

Trisha Wong, MD¹^*, Monica Calicchio²^*, Mark D. Fleming, MD, DPhil², Akiko Shimamura, MD, PhD¹ and Marian Hester Harris, MD, PhD²^*

¹Fred Hutchinson Cancer Research Center, Seattle, WA
²Children's Hospital Boston, Boston, MA

5:45 PM

Nucleolar Stress and p53 Mediated Erythroid Failure in Diamond Blackfan Anemia

Colin Sieff, MBBCH¹ and Harvey F. Lodish, PhD²

¹Hematology, Children's Hospital Boston, Boston, MA
²Whitehead Institute for Biomedical Research, Cambridge, MA

See more of: Oral and Poster Abstracts

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^*signifies non-member of ASH

508.O1.6 Bone Marrow Failure