EuroDBA business meeting (closed) Venue: Het Bureau, Johan Huizingalaan 763A, Amsterdam

Meeting of DBA patient representatives (closed) Venue: Het Bureau, Johan Huizingalaan 763A, Amsterdam

Interactive session and dinner (open, RSVP requested) Venue: Het Bureau, Johan Huizingalaan 763A, Amsterdam

Registration open

Venue: Sanquin, Plesmanlaan 125, Amsterdam 1066 CX

Welcome

June 11: “Basic mechanisms of disease”.

Session I: Ribosome biogenesis.

Chairs: Steve Ellis & Pierre-Emmanuel Gleizes

• SSU production defects activate p53 via the 5S RNP through stalling LSU maturation – Nicholas Watkins, UK (15+5 min)
• RPL5 haploinsufficiency in DBA and its impact on ribosome function – Marianna Penzo, Italy (15+5 min)
• Eukaryotic Ribosomal RNA Modification - Christiane Zorbas, Belgium (15+5 min)

Coffee break

Session II: Disease pathophysiology.

Chairs: Kim De Keersmaecker & Lorenzo Montanaro

• Nucleolar surveillance coordinates the response to multiple cellular stresses to regulate p53 – Rita Ferreira, Australia (15+5 min)
• Characterization of DBA Silent Carriers via Induced Pluripotent Stem Cell Lines – Devon Germain, Austria (15+5 min)
• Novel insights in genotype/phenotype correlations in DBA – Beren Karaosmanoglu, Turkey  (15+5 min)
• New variants in a DBA phenotype – Alyson MacInnes, Netherlands (15+5 min)

Lunch

Keynotes: Sanquin Lecture Series

Chairs: Alyson MacInnes and Marieke von Lindern

Talk 1: Sculpting the catalytic core of the ribosome: insights from human ribosomopathies – Alan Warren, UK (25+5 min)

Talk 2: Exploring Techniques for Gene Correction and Rescue in DBA Patient-Derived Inducible Pluripotent Stem Cells - Min-Joon Han, USA (25+5 min)

Session III: New players and techniques on the DBA field

Chairs: Denis Lafontaine & Marcin Wlodarski

• Free heme overload in the DBA progenitors and HSP70/GATA1 involvement in the globin/heme disequilibrium – Lydie Da Costa, France (15 +5 min)
• Using pre-rRNA as a diagnostic indicator – Pierre Emmanuel Gleizes, France (15+5 min)
• Genetic screening to identify suppressors of DBA – Yannik Thueringer, Austria (15+5 min)
• Using metabolomics to explore erythroid-specific determinants of ribosomal stress in DBA – Marije Bartels, Netherlands (15+5 min)

Coffee break

Session IV: Non-hematological aspects of DBA

Chairs: Lydie Da Costa & Hannah Tamary

• The transition from hypo- to hyperproliferative phenotypes in ribosomopathies – Kim de Keersmaecker, Belgium (15+5 min)
• Insights into iron overload – Ward van Beers, Netherlands (15+5 min)
• Conditional depletion of Rps19 in the mouse leads to severe skeletal defects - Lionel Blanc, USA (15+5 min)
• The malignant phenotypes found in the Czech DBA registry – Dagmar Pospíšilová, The Czech Republic (15+5 min)

Special session V: Gene Therapy in Fanconi Anemia: Recent Advances and Future Directions - Jonathan Schwartz, Rocket Pharmaceuticals USA

Drinks

Banquet hosted by Sanquin

June 12:"Clinical aspects of DBA".

Venue: Sanquin, Plesmanlaan 125, Amsterdam 1066 CX

Session VI: Updating worldwide DBA registries and guidelines

Chairs: Irma Dianzani & Marije Bartels

• The Polish DBA registry – Kasia Albrecht, Poland (10+5 min)
• The South African DBA registry – Colin Noel, South Africa (10+5 min)
• The Italian DBA registry - Ugo Ramenghi, Italy  (10+5 min)
• The Russian Federation DBA registry - Galina Ovsyannikova, Russia  (10+5 min)
• The North American DBA registry - Jeffery Lipton (10+5 min)
• Developing International Consensus for Diagnosing and Treating Patients with DBA - Marcin Wlodarski, USA (15+5 min)

Coffee break

Session VII: Current therapeutic strategies in DBA  

Chairs: & Charlotte Niemeyer & Thierry Leblanc

• An Update on Clinical Trials for DBA – Adriana Vlachos, USA (15+5 min)
• Transfusion independence observed in a DBA girl during treatment with Deferasirox and Eltrombopag - Ugo Ramenghi, Italy (15+5 min)
• Hematopoietic stem cell transplantation in children and adolescents with DBA: a report from the German DBA registry and French HSCT Registry -  Felicia Loewecke, Germany (15+5 min)
• Preclinical studies towards gene therapy of Diamond-Blackfan anemia  -  Susana Navarro, Spain (15+5 min)

Lunch

Session VIII: Strategies for future therapies

Chairs: Adrianna Vlachos & Stefan Karlsson

• High-throughput screening approaches to identify therapeutic targets for the treatment of DBA – Amee George, Australia (15+5 min)
• Novel small molecule therapies for DBA – Johan Flygare, Sweden (15+5 min)
• A clinically applicable Lentiviral vector corrects the anemia and bone marrow failure in a mouse model for DBA – Yang Liu, Sweden (15+5 min)
• The patient perspective: Where to go from here? - Martin Winter, UK (10+5 min)

Farewell - Meeting closes