Research Officer
BSc (Hons), PhD
Genevieve Syn has been at the Telethon Kids Institute since 2009, where she did her Honours project on the parasite Toxoplasma gondii. After graduating from Murdoch University with a First Class Honours, she continued on as a research assistant at the Telethon Kids Institute working on several projects including Aboriginal susceptibility to Type II diabetes and obesity, Hypospadias and Toxoplasma gondii. In 2013, she commenced her PhD studies in the Telethon Kids Institute under the supervision of Dr Sarra Jamieson and Professor Jenefer Blackwell. Following her PhD, she then joined the team of Genetic and Rare Diseases led by A/Prof Timo Lassmann.
Genevieve has always been interested in microbiology research, especially the interactions between the host and the bug. Recently, she has developed a keen interest in the revolutionary gene editing tool called CRISPR-Cas9 and wants to apply this to the field of rare disease research.
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Publications
December 2023
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
Published research Early Childhood Development Computational Biology Child Physical Activity, Health and Development Mitochondrial Research Translational Genetics Genomics Child and adolescent health GeneticsFebruary 2021Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis Patients
Visceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
Published research Genetics and HealthFebruary 2022CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
Published research Computational Biology Translational GeneticsApril 2020Reference exome data for Australian Aboriginal populations to support health-based research
Our data set provides a useful reference point for genomic studies on Aboriginal Australians
Published research Aboriginal Health Group A Streptococcal & Rheumatic Heart Disease Computational Biology Genetics and HealthAugust 2019Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India
Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani
Published research Genetics and HealthJanuary 2019CD8+XCR1neg Dendritic Cells Express High Levels of Toll-Like Receptor 5 and a Unique Complement of Endocytic Receptors
Our data demonstrate that CD8+XCR1neg DCs possess a unique pattern of endocytic receptors and a restricted TLR profile that is particularly enriched for TLR5
Children's Cancers Published research Systems Immunology Cancer Immunology and BiologyJuly 2018Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways
Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs
Published research Genetics and HealthJuly 2018Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians
Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
Published research Aboriginal Health Diabetes and Obesity Computational Biology Genetics and HealthJanuary 2018An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation
To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins
Published research Genetics and Health -
Education and Qualifications
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Awards/Honours