Program
10 June 2019
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
11 June 2019
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
12 June 2019
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
Global Bridges DBA Symposium
Marije Bartelsglobalbridges2019@gmail.com
Marije Bartelsglobalbridges2019@gmail.comhttps://www.aanmelder.nl/106638
2019-06-10
2019-06-12
OfflineEventAttendanceMode
EventScheduled
Global Bridges DBA SymposiumGlobal Bridges DBA Symposium0.00EUROnlineOnly2019-01-01T00:00:00Z
Sanquin Research Sanquin Research Plesmanlaan 125 1066 CX Amsterdam Netherlands