Fishing for answers to DBA DR BETH PAYNE

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

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

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

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

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 ?

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

Zebrafish

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

Why do we use zebrafish? 2 mm

Why do we use zebrafish?

Zebrafish Embryo stained for Haemoglobin at 4 days

Effects of Leucine in DBA zebrafish

Growth of DBA zebrafish with leucine

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

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!!!