Mon 10 june 2019

15:00 - 18:00

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

15:00 - 18:00

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

18:00 - 20:00

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

Tue 11 june 2019

07:30 -

Registration open

Venue: Sanquin, Plesmanlaan 125, Amsterdam 1066 CX

 

09:00 - 09:10

Welcome

09:10 - 10:10

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)
10:10 - 10:40

Coffee break

10:40 - 12:00

Session II: Disease pathophysiology.

Chairs: Kim De Keersmaecker & Lorenzo Montanaro

  • What´s new in erythropoiesis?Marieke von Lindern, Netherlands (15+5)
  • Characterization of DBA Silent Carriers via Induced Pluripotent Stem Cell Lines – Devon Germain, Austria (15+5)
  • Novel insights in genotype/phenotype correlations in DBA – Beren Karaosmanoglu, Turkey  (15+5min)
  • New variants and their differential effects on ribosome function and cellular metabolism – Alyson MacInnes, Netherlands (15+5)
12:00 - 13:00

Lunch

13:00 - 14:00

Keynotes: Sanquin Lecture Series

Chairs: Alyson MacInnes and Marieke von Lindern

Talk 1: Using cryo-EM to visualise the mechanism of large ribosomal subunit maturation – 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)

14:00 - 15:20

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)
  • Using pre-rRNA as a diagnostic indicator – Pierre Emmanuel Gleizes, France (15+5)
  • Genetic screening to identify suppressors of DBA – Yannik Thueringer, Austria (15+5)
  • Using metabolomics to explore erythroid-specific determinants of ribosomal stress in DBA – Marije Bartels, Netherlands (15+5)
15:20 - 15:40

Coffee break

15:40 - 17:00

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)
  • Insights into iron overload – Ward van Beers, Netherlands (15+5)
  • Conditional depletion of Rps19 in the mouse leads to severe skeletal defects - Lionel Blanc, USA (15+5)
  • The malignant phenotypes found in the Czech DBA registry – Dagmar Pospíšilová, The Czech Republic (15+5)
17:00 - 17:20

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

17:20 - 18:00

Drinks

18:00 - 20:00

Banquet hosted by Sanquin

Wed 12 june 2019

09:00 - 10:20

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 (15+5 min)
  • The South African DBA registry – Colin Noel, South Africa (15+5 min)
  • The Italian DBA registry - Ugo Ramenghi, Italy  (15+5 min)
  • The North American DBA registry - Jeffery Lipton (15+5 min)
  • Developing International Consensus for Diagnosing and Treating Patients with DBA - Marcin Wlodarski, USA (15+5 min)
10:20 - 11:00

Coffee break

11:00 - 12:00

Session VII: Current therapeutic strategies in DBA  

Chairs: & Charlotte Niemeyer & Thierry Leblanc

  • An Update on Clinical Trials for DBA – Adriana Vlachos, USA (15+5)
  • Transfusion independence observed in a DBA girl during treatment with Deferasirox and EltrombopagUgo Ramenghi, Italy (15+5)
  • 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)
12:00 - 13:00

Lunch

13:00 - 14:20

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)
  • Novel small molecule therapies for DBA – Johan Flygare, Sweden (15+5)
  • A clinically applicable Lentiviral vector corrects the anemia and bone marrow failure in a mouse model for DBA – Yang Liu, Sweden (15+5)
  • The patient perspective: Where to go from here? - Martin Winter, UK (10+5)
14:20 - 14:30

Farewell - Meeting closes

participants registration
 participants registration