IWK Health Centre
Halifax, Nova Scotia
Blood cancer type
DNAJC21 a novel leukemia predisposition gene in Shwachman-Diamond Syndrome
Mutations in a gene called DNAJC21 were recently found to cause Shwachman-Diamond syndrome (SDS). Patients affected by SDS have low numbers of white blood cells, characteristic physical findings, and an increased risk of developing leukemia. In this study, Zebrafish, which have similar blood development to humans, will be genetically modified to contain this mutation and loss of the related TP53 gene to determine their contribution to normal blood development and leukemia.