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1. Beyond rare monogenetic variants in predominantly antibody deficiency

We have established a large cohort of patients with predominantly antibody deficiency (PAD), the most prevalent symptomatic form of primary immunodeficiency. Even though advancements in next-generation sequencing (NGS) have yielded an increase in new causative gene identification, the diagnostic rate for our PAD cohort remains low (25%). This highlights the complexity of the genetic causes of this disease. We have taken a unique approach beyond identification of rare genetic variants, in which we include functional analysis of immune cell function, and disease-modifying effects of common gene variants. The project will involve functional studies of B-cell, T-cell and monocyte activation, as well as whole exome analysis of inherited gene variants. The student will have their own research project to examine the disease-causing immunological mechanism in a subgroup of patients through flowcytometric, in vivo functional, and genetic analyses. In this project, the student will have a unique opportunity to study important processes in the human immune system, will be exposed to basic and clinical research, will apply state-of-the-art conventional and imaging flowcytometry, genomics and ex vivo functional analysis of immune cells. Relevant literature: - Slade CS et al Frontiers Immunol 2018 - PAD cohort Victoria - Verstegen R.H.J et al Frontiers Immunol 2019 - B-cell and T-cell replication in PAD - Edwards E.S.J. et al Frontiers Immunol 2019 - Immune profiling of PAD patients with and without non-infectious complications - Edwards E.S.J. et al Cell Mol Immunol 2021 - Invited review highlighting the current state-of-art in understanding of the genetic, immunologic and clinical features of PAD
Essential criteria: 
Minimum entry requirements can be found here:
immunodeficiency, antibody deficiency, flow cytometry, genomics, B cell, T cell
Available options 
Masters by research
Masters by coursework
Time commitment 
Top-up scholarship funding available 
Physical location 
Alfred Research Alliance
Emily Edwards
Robyn O'Hehir

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