Functional interrogation of Loci associated with the regulation of haematopoiesis

2019-2021 (Fellowship): The Alex Gadomski Fellowship. Functional interrogation of Loci associated with the regulation of haematopoiesis. Dr Kirsten Fairfax, Menzies Institute for Medical Research and University of Tasmania.

To understand bone marrow failure and identify new treatments, detailed knowledge on how different types of blood cells are formed is essential. This work aimed to answer two fundamental questions: ‘What genes determine the proportion of specific cell types in the blood?’ and ‘What are the underlying genetic drivers for gene expression in different blood cells?’.

Over 1000 blood samples and 72 bone marrow samples from Tasmanians were subjected to in-depth analysis to gain a deeper understanding of how genetic differences between people affect the development of blood cells. Several publications have resulted from this work, helping to predict how genetic variants affect the severity of bone marrow failure and providing important information on potential new targets for treatment.