1. Fishing for answers to DBA DR BETH PAYNE

2. Who am I? Haematology Consultant at University College London Hospital/Research at UCL CI

3. Why am I here Trained in Haematology in Glasgow and London 2006 went to Harvard Medical School in Boston, USA Became interested in studying DBA

4. Researching what goes wrong in DBA – WHAT DO WE KNOW? Red blood cells die prematurely

5. Researching what goes wrong in DBA – WHAT DO WE KNOW? Mistakes or absence one copy of a group of genes These genes code for ribosomal proteins US National library of Medicine

6. Researching what goes wrong in DBA – WHAT WOULD WE LIKE TO KNOW? Since ribosomes are needed in all cells, why does DBA only cause problems with red blood cells? Can we use research to help us find new treatments ?

7. How to answer our questions? Patients and their families are the greatest teachers Some experiments cannot be done on patients so we need to learn more using other laboratory models

8. Zebrafish

9. Why do we use zebrafish? RO Karlstrom and DA Kane A flipbook of zebrafish embryogenesis Development (1996) 123:461

10. Why do we use zebrafish? 2mm

11. Why do we use zebrafish?

12. Zebrafish Embryo stained for Haemoglobin at 4 days

13. Effects of Leucine in DBA zebrafish

14. Growth of DBA zebrafish with leucine

15. Ongoing projects – using DBA zebrafish to find new drugs for DBA Assess candidate compounds in primary cells Use Red fluorescent DBA zebrafish

16. Acknowledgements UCL Maria Virgilio Greg Pietka Youngrock Joung Tariq Enver Steve Wilson David Linch St Marys/Imperial College Josu De La Fuente DFCI/Harvard Medical School USA Tom Look Evisa Gjini Ujwal Pyati Hong Sun Arati Khanna-Gupta Nancy Berliner Anu Narla Ben Ebert DBA Patients and families!!!