57th ASH Annual Meeting and Exposition (December 5-8, 2015): 508. Bone Marrow Failure: A New Hope

Bone Marrow Failure Oral and Poster Abstracts
Oral

Tangerine 3 (WF3-4), Level 2 (Orange County Convention Center)

Moderators:

Charles J. Parker, MD, University of Utah School of Medicine and Steven R Ellis, PhD, University of Louisville

Disclosures:

No relevant conflicts of interest to declare.

2:45 PM

Telomere Length and Telomerase Assay Assist in Identifying Novel Telomere Gene Complex Mutations in a Cohort of Patients with Aplastic Anemia

Shreyans Gandhi, MBBS, MD, DNB, MRCP, FRCPath^1,2^*, Jie Jiang, PhD³^*, Nana Benson-Quarm, B.Sc, Dip (Nursing)⁴^*, Hanna Renshaw, MBBS, MA⁴^*, Syed A Mian, BSc, M.Phil⁵^*, Austin G. Kulasekararaj, MBBS, MD, MRCP, FRCPath⁴^*, Ghulam J Mufti, MBBS, DM, FRCP, FRCPath^2,4 and Judith C. W. Marsh, MD, FRCP, FRCPath⁶

¹Department of Hematological Medicine, Kings College Hospital NHS Foundation Trust, London, United Kingdom
²Division of Cancer Studies, Kings College London, London, United Kingdom
³Division of Cancer Studies, King's College London, London, United Kingdom
⁴Department of Haematological Medicine, Kings College Hospital NHS Foundation Trust, London, United Kingdom
⁵Department of Haematological Medicine, King's College London, London, United Kingdom
⁶Haematological Medicine, King's College Hospital, London, United Kingdom

3:00 PM

668

The Zebrafish Provides Mechanistic Insights into the Role of Poly(A)-Specific Ribonuclease (PARN) in Hematopoietic Stem Cell (HSC) Homeostasis and Bone Marrow Failure

Adam P Deveau, BScH, MSc¹^*, Andrew J Coombs, BScH¹^*, Santhosh Dhanraj, BSc, MSc^2,3^*, Gretchen Wagner, BScH⁴^*, Yigal Dror, MD, FRCP(C)^2,5,6 and Jason N. Berman, MD⁷

¹Department of Pediatrics, IWK Health Centre, Halifax, NS, Canada
²Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada
³Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada
⁴Dalhousie University, Halifax, NS, Canada
⁵Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada
⁶Institute of Medical Science, University of Toronto, Toronto, ON, Canada
⁷Pediatrics/Microbiology and Immunology, IWK Health Centre/Dalhousie University, Halifax, NS, Canada

3:15 PM

669

Mutations in the Poly(A)-Specific Ribonuclease (PARN) Impair Telomerase RNA 3' End Maturation in Dyskeratosis Congenita Patients

Diane H. Moon, PHD^1,2,3^*, Matthew Segal^1,2,3^*, Baris Boyraz^1,2,3,4^*, Eva Guinan, MD⁵, Inga Hofmann, MD^1,2, Patrick Cahan, PHD¹^*, Albert K Tai, PHD⁶^* and Suneet Agarwal, MD, PHD^1,2,3

¹Hematology/Oncology, Boston Children's Hospital, Boston, MA
²Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA
³Harvard Stem Cell Institute, Boston, MA
⁴Basic Oncology, Hacettepe University Cancer Institute, Ankara, Turkey
⁵Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA
⁶Integrative Physiology and Pathobiology, Tufts University School of Medicine, Boston, MA

3:30 PM

670

Pathophysiology of Macrocytic Anemia in Diamond Blackfan Anemia and Del(5q) Myelodysplastic Syndrome

Zhantao Yang, MD¹^*, Sioban B. Keel, MD¹, Brent L. Wood, MD PhD²^*, Bart L. Scott, MD, MS³ and Janis L. Abkowitz, MD¹

¹Medicine/Hematology, University of Washington, Seattle, WA
²Laboratory Medicine, University of Washington, Seattle, WA
³Medical Oncology, Fred Hutchinson Cancer Research Center & University of Washington, Seattle, WA

3:45 PM

671

HSP70, the Key to Account for Erythroid Tropism of Diamond-Blackfan Anemia?

Marc Gastou^1,2,3^*, Sarah Rio^2,3,4^*, Mickael Dussiot^5,6,7^*, Narjesse Karboul^2,3,8^*, Thierry Leblanc⁹^*, Margaux Sevin^10,11^*, Olivier Bluteau^1,12^*, Narla Mohandas, D.Sc.¹³, William Vainchenker, MD, PhD^3,12,14, Carmen Garrido, PhD^3,15,16^*, Eric Solary, MD, Prof^17,18,19^*, Olivier Hermine^3,20,21,22^* and Lydie Da Costa, MD, PhD^2,3,4,23

¹Institut Gustave Roussy, Inserm U1170, Villejuif, France
²Université Paris 7 Denis Diderot-Sorbonne Paris Cité, Paris, France
³LABEX GR-Ex, Paris, France
⁴Inserm U1149, CRI, Faculté de Médecine Xavier Bichat, Paris, France
⁵LABEX GR-Ex, France, France
⁶UMR 1163, Institut Imagine, Paris, France
⁷Université Paris Descartes, Paris, France
⁸Faculté de Médecine Xavier Bichat, Inserm U1149, CRI, Paris, France
⁹AP-HP, hôpital Robert Debré, service d’onco-hématologie pédiatrique, Paris, France
¹⁰LABEX GR-Ex, ¨Paris, France
¹¹Inserm U866, Université de Bourgogne, Dijon, France
¹²Université Paris 11, Orsay, France
¹³Red Cell Physiology Laboratory, New York Blood Center, New York, NY
¹⁴INSERM U1170, Institut Gustave Roussy, Villejuif, France
¹⁵INSERM, unité mixte de recherche 866, Equipe labellisée Ligue contre le Cancer and Association pour la Recherche contre le Cancer, and Laboratoire d’Excellence Lipoprotéines et santé (LipSTIC), 21033 Dijon, France, Dijon, France
¹⁶University of Burgundy, Faculty of Medicine and Pharmacy, 7 boulevard Jeanne d’Arc, 21033 Dijon, France, Dijon, France
¹⁷Gustave Roussy, Villejuif, France
¹⁸INSERM U1170, VILLEJUIF, France
¹⁹Faculty of Medicine, Université Paris-Sud, Le Kremlin-Bicetre, France
²⁰Imagine Institute, Sorbonne Paris Cité, Paris Descartes University, Paris, France
²¹Institut Imagine, INSERM 1163/CNRS ERL 8254, Paris, France
²²Department of Hematology, Necker Children's hospital, APHP, Paris, France
²³AP-HP, hôpital Robert Debré, service d’hématologie biologique, Paris, France

4:00 PM

672

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency in in Vitro and In Vivo Diamond Blackfan Anemia Models

Elizabeth R Macari, PhD¹^*, Alison Taylor, PhD¹^*, David Raiser, PhD²^*, Kavitha Siva, PhD³^*, Katherine McGrath¹^*, Jessica M Humphries¹^*, Johan Flygare, MD, PhD⁴^*, Benjamin L Ebert, MD, PhD⁵ and Leonard I. Zon, M.D⁶

¹Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA
²Harvard Medical School, Boston, MA
³Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund University, Lund, Sweden
⁴Stem Cell Center, Lund University, Lund, Sweden
⁵Division of Hematology, Brigham and Women's Hospital, Boston, MA
⁶Stem Cell Program and Division of Hematology/Oncology, Howard Hughes Medical Institute, Boston Children's Hospital/Harvard Medical School, Boston, MA

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^*signifies non-member of ASH

508.O2.6 508. Bone Marrow Failure: A New Hope – Disease Mechanisms and Translation