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Fishing for answers to DBAFishing for answers to DBADR 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?Why do we use zebrafish?
RO Karlstrom and DA Kane A flipbook of zebrafish embryogenesis Development (1996) 123:461
Why do we use zebrafish?Why do we use zebrafish?
2mm
Why do we use zebrafish?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
Assess candidate compounds in primary cells
Use Red fluorescent DBA zebrafish
AcknowledgementsUCL
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!!!