Stephen Fuller
The University of Sydney, NSW, Australia
A/Professor Fuller is a Clinical Academic Haematologist at Nepean Hospital and Nepean Clinical School, the University of Sydney. He completed his PhD from the University of Sydney in 2012 and was promoted to Senior Lecturer in 2014 to Associate Professor. In 2015 he was promoted to Head of Nepean Clinical School. He has held the following University positions: Chair, Haematology Block, The University of Sydney (2004-18); Postgraduate Coordinator, Sydney Medical School Nepean (2012-16); MD Co-Ordinator, Sydney Medical School Nepean (2014-16); Sub Dean (Early Career Research), Sydney Medical School Nepean (2012-16); Chair, The University of Sydney Modification Research Committee (2014-present) and; Chair, The University of Sydney, Clinical Governance Project Control Board (2016-18). My research group currently consists of 1 x 1 FTE research assistant, 2 x PhD, 1 x Masters and 2 x MD students.
As Head of Nepean Clinical School, he manages 17 FTE academic positions and 6 FTE professional positions, 150 graduate medical students and 35 higher degree research students. He has published extensively on genetic variation of the purine receptor, P2X7, and the effect of variants on receptor function. In his doctoral thesis, he characterized the haplotype structure of the P2X7 gene and phenotypic variations in function arising from interactions between multiple genetic variants (Purinergic Signalling. 2009). These studies formed the basis of an investigation into the functional effects of P2X7 haplotypes, which demonstrated that a gain-of-function mutation in the second transmembrane domain of the P2X7 receptor correlated with enhanced ion channel activity and interleukin-1β cytokine secretion (FASEB J. 2010,). This in turn led to a study in collaboration with Danish researchers that found an association between gain-of-function P2X7 single nucleotide polymorphisms (SNPs) and protection against osteoporosis whereas low bone mineral density in post-menopausal women was associated with loss-of-function SNPs (European Journal of Human Genetics. 2012).
His P2X7 research program has successfully studied associations between P2X7 variants and disease phenotypes using the haplotype structure of the P2X7 gene. These studies have been complemented by detailed analyses of the effects of genetic variants on receptor function and he was senior author on a highly cited review of the role of genetic variation in P2X7 and innate immunity (Tissue Antigens. 2011.). A/Professor Fuller was equal first author on a research article which was the first to report P2X7 activation by ATP as an important mechanism for in vitro killing of Toxoplasma gondii-infected human macrophages (J Immunol. 2010). He has continued to study the function of P2X7 in innate immunity and in collaboration with researchers from the University of Technology, Sydney, showed the importance of P2X7 for the host immune response to T. gondii infection in vivo (International Journal for Parasitology. 2011) and co-authored a review on the role of P2X7 in infectious diseases (PLoS Pathogens. 2011).
In recent work on alternative splicing of P2X7 he have cloned and expressed a novel P2RX7 splice variant, P2RX7L, which is characterized by deletion of the ligand-binding site. A six SNP haplotype was found to induce partial allele-specific alternative splicing, increasing mRNA levels of this splice variant and a second variant that also lacks the long, intracellular tail of the full-length protein (FASEB J. 2020.). Significantly, these splice variants form complexes with full-length P2X7A. This finding has the potential to significantly impact our understanding of how the receptor functions in different environments that affect alternative splicing, and between individuals who inherit specific combinations of SNPs that regulate alternative splicing.
A/Professor Fuller has published work on the genetics of chronic lymphocytic leukemia (CLL). He has a strong track record as Principal Investigator for four T1-translation trials at the Nepean Hospital supervising 6 Clinical Haematologists, 3 Pharmacists and 2 Clinical Trials Managers, and eight T1- and T2-translation trials as sub investigator. His former PhD student (Dr. Abdullah Alshahrani, 2018) studied the proteomics of familial CLL using MS and is now a research group leader (Haematological Malignancies) at the College of Applied Medical Sciences, King Khalid University, Kingdom of Saudi Arabia. His total career research funding exceeds $1.3M and he has a career total of 46 refereed publications, in top ranking journals including Blood, Journal of Immunology, American Journal of Human Genetics and the British Journal of Haematology. He has 2,776 (Google scholar) journal citations and h-index 26 (24/4/2021).