62nd ASH Annual Meeting and Exposition: 113. Hemoglobinopathies, Excluding Thalassemia—New Genetic Approaches to Sickle Cell Disease: Fetal Hemoglobin Regulation And Reticulocyte Maturation In Sickle Cell Disease

Oral and Poster Abstracts
Oral

sickle cell disease, Adult, Anemias, Biological, Diseases, Animal models, Non-Biological, Therapies, Biological Processes, Hemoglobinopathies, gene therapy, erythropoiesis, Study Population, Clinically relevant, hematopoiesis, pharmacology, pathways

Moderators:

Jonathan M. Flanagan, PhD, Baylor College of Medicine and Annarita Miccio, PhD, IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité

Disclosures:

No relevant conflicts of interest to declare.

9:30 AM

Gene Editing of KLF1 to Cure Sickle Cell Disease

Kevin R. Gillinder, PhD¹^*, Casie Leigh Reed, BSc¹^*, Shezlie Malelang, BSc¹^*, Helen Lorraine Mitchell, BSc²^*, Emma Hoskin, BSc³^*, Graham William Magor, BSc¹^*, Zane Kaplan, MBBS(Hons) BMedSc(Hons) PhD FRACP FRCPA^4,5 and Andrew Charles Perkins, MBBS, PhD^6,7

¹Australian Centre for Blood Diseases, Monash University, Melbourne, Australia
²Australian Centre for Blood Diseases, Monash University, Melbourne, AUS
³Department of Haematology, Monash Medical Centre, Clayton, Australia
⁴Monash Medical Center, Clayton, Victoria, Australia
⁵The Alfred Hospital, Prahran, AUS
⁶Department of Haematology, The Alfred Hospital, Melbourne, Australia
⁷Australian Centre for Blood Diseases, Monash University, Malvern, VIC, Australia

9:45 AM

Angiotensin Signaling Is Essential for Stress Erythropoiesis but Results in Retention of Dysfunctional Mitochondria in Erythrocytes That Generate Excessive Reactive Oxygen Species

Parul Rai, MD, MBBS^1,2, Swarnava Roy, PhD³^*, Diamantis G. Konstantinidis, PhD, BSc⁴^*, Sithara Raju Ponny, MS⁵^*, Marthe-sandrine Eiymo Mwa Mpollo, PhD⁶^*, Archana Shrestha⁷^*, Theodosia A. Kalfa, MD, PhD^2,4,8 and Punam Malik, MD²

¹Hematology, St Jude Children's Research Hospital, Memphis, TN
²Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
³Division of Experimental Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati
⁴Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁵Department of Biostatistics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁶Division of Experimental Hematology, Cincinnati Children's Hospital Medical Center, Cinicinnati, OH
⁷Cincinnati Children's Hospital and Medical Center, Cincinnati, OH
⁸Erythrocyte Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

10:00 AM

Cathepsin B, a Negative Regulator of Autophagy, Identified As a Novel Therapeutic Drug Target in Sickle Cell Disease

Jagadeesh Ramasamy, PhD¹^*, Vinzon Ibanez, B.S.¹^*, Kareem Al-Qadi¹^*, Helen Zhang¹^*, Jennifer Afranie-Sakyi, MD¹, Robert E. Molokie, MD^2,3, Donald Lavelle, PhD^2,4 and Angela Rivers, MD^1,2,5

¹Department of Pediatrics, College of Medicine, University of Illinois at Chicago, Chicago, IL
²Jesse Brown VA Medical Center, Chicago, IL
³Department of Medicine, Division of Hematology and Oncology, University of Illinois at Chicago, Chicago, IL
⁴Department of Medicine, College of Medicine, University of Illinois at Chicago, Chicago, IL
⁵UCSF Benioff Children's Hospital Oakland, Oakland, CA

10:15 AM

Salubrinal Mediated Fetal Hemoglobin Induction through the eIF2α-ATF4 Signaling Pathway

Nicole Hope Lopez, BS¹, Biaoru Li, MD, PhD², Xingguo Zhu, PhD^2,3 and Betty S. Pace, MD^1,2,3

¹Department of Biochemistry and Molecular Biology, Augusta University, Augusta, GA
²Department of Pediatrics, Augusta University, Augusta, GA
³Georgia Cancer Center, Augusta University, Augusta, GA

10:30 AM

Editing the LRF Repressor Binding Site in the γ-Globin Promoters Induces Therapeutically Relevant Fetal Hemoglobin Levels for the Treatment of β-Hemoglobinopathies

Giacomo Frati, PhD^1,2^*, Panagiotis Antoniou, MSc^2,3^*, Giulia Hardouin^2,3^*, Bochra Mlaya, MSc^2,3^*, Leslie Weber⁴^*, Tristan Felix^2,5^*, Antonio Casini⁶^*, Marion Rosello⁷^*, Anne Chalumeau^2,5^*, Mario Amendola⁸^*, Adrian J. Thrasher, MBBS, PhD, FMedSci⁹^*, Giandomenico Turchiano, PhD¹⁰^*, Filippo Del Bene⁷^*, Wassim El Nemer, PhD^2,11,12^*, Anna Cereseto⁶^*, Jean-Paul Concordet¹³^*, Carine Giovannangeli¹⁴^*, Marina Cavazzana, MD, PhD^15,16 and Annarita Miccio, PhD^1,2

¹Imagine Institute, Laboratory of chromatin and gene regulation during development, INSERM UMR1163, Paris, France
²University of Paris, Paris, France
³Imagine Institute, INSERM UMR1163, Paris, France, Paris, France
⁴Imagine Institute, Paris, FRA
⁵Imagine Institute, Paris, France
⁶CIBIO, University of Trento, Trento, Italy
⁷Institut de la Vision, Paris, France
⁸Genethon, Evry, France
⁹UCL Great Ormond Street Institute of Child Health, London, United Kingdom
¹⁰UCL GOS Institute of Child Health Molecular and Cellular Immunology, LOndon, United Kingdom
¹¹Integrated Biology of the Red Cell, INSERM Unit 1134, Paris, France
¹²Laboratory of Excellence GR-Ex, Paris, France
¹³INSERM U565, CNRS UMR7196, Museum National d'Histoire Naturelle, Paris, France
¹⁴INSERM U565, CNRS UMR7196, Museum National d'Histoire Naturelle, Paris, France, Paris, France
¹⁵Biotherapy Department, Hopital Necker - Enfants Malades, Paris, France
¹⁶IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

10:45 AM

Novel Genetic Loci That Influence Fetal Hemoglobin Expression in Children with Sickle Cell Anemia

Anu Marahatta, PhD¹, Thad A. Howard, MS²^*, Susan E. Stuber, MA¹^*, Kathryn L McElhinney, BS¹^*, Leon Tshilolo, MD PhD³^*, Thomas N. Williams, MD PhD⁴^*, Peter Olupot-Olupot, MD PhD⁵^*, Brigida Santos, MD⁶^*, Chandy C. John, MD, MS⁷^*, Robert Opoka, MMED⁸^*, Rosa M. Nieves, MD⁹^*, Rafael Mena, MD¹⁰^*, Jasmine Baker, PhD¹¹, Teresa Latham, MA¹^*, Jonathan M. Flanagan, PhD¹¹ and Russell E. Ware, MD, PhD^1,12

¹Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
²Division of Hematology, Cincinnati Children's Research Hospital, Cincinnati, OH
³Centre Hospitalier Monkole, Kinshasa, Congo (The Democratic Republic of the)
⁴KEMRI-Wellcome Trust Programme, Kilifi, Kenya
⁵Mbale Clinical Research Institute, Mbale, Uganda
⁶Hospital Pediatrico David Bernardino, Luanda, Angola
⁷Ryan White Center for Pediatric Infectious Diseases and Global Health, Indiana University, Indianapolis, IN
⁸Pediatrics and Child Health, Makerere University, Kampala, Uganda
⁹Robert Reid Cabral Hospital, Santo Domingo, Dominican Republic
¹⁰Centro de Obstetricia y Ginecología, Santo Domingo, Dominican Republic
¹¹Department of Pediatrics - Hematology/Oncology, Baylor College of Medicine, Houston, TX
¹²Global Health Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

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^*signifies non-member of ASH

113.O2.6 113. Hemoglobinopathies, Excluding Thalassemia—New Genetic Approaches to Sickle Cell Disease: Fetal Hemoglobin Regulation And Reticulocyte Maturation In Sickle Cell Disease