Senior Research Fellow
BSc (Hons) MSc PhD
Areas of research expertise: genetic epidemiology, epigenetics, DNA methylation, childhood infection, developmental origins of health and disease.
Dr Jamieson completed her PhD and post-doctoral research in genetic epidemiology of infectious disease at the University of Cambridge, UK.
In 2007 she relocated to Australia and joined the Telethon Kids Institute as a Research Fellow within the division of Genetics and Health.
Her research focuses on the genetic and epigenetic mechanisms underlying susceptibility to congenital (i.e. toxoplasmosis, hypospadias) or early childhood (otitis media) conditions. As part of this research she has successfully established two large (epi)genetic epidemiological studies, namely The Family Study of Ear Infections in Western Australian Children and The Understanding Hypospadias Study.
Sarra's research has received funding from various sources including The Raine Medical Research Foundation, the BrightSpark Foundation, the Cancer Council of Western Australia, the University of Western Australia, the Department of Health of Western Australia. She has also collaborated on several NHMRC funded projects.
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Projects
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Publications
February 2022
CRISPR 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 GeneticsNovember 2021Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population
Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
Published research Ear Infections Aboriginal Health Computational Biology Genetics and HealthApril 2021Reduced socs1 expression in lung fibroblasts from patients with ipf is not mediated by promoter methylation or mir155
The interleukin (IL)-6 family of cytokines and exaggerated signal transducer and activator of transcription (STAT)3 signaling is implicated in idiopathic pulmonary fibrosis (IPF) pathogenesis, but the mechanisms regulating STAT3 expression and function are unknown. Suppressor of cytokine signaling (SOCS)1 and SOCS3 block STAT3, and low SOCS1 levels have been reported in IPF fibroblasts and shown to facilitate collagen production. Fibroblasts and lung tissue from IPF patients and controls were used to examine the mechanisms underlying SOCS1 down-regulation in IPF.
Published research Genetics and Health Airway Epithelial ResearchDecember 2020A flexible computational pipeline for research analyses of unsolved clinical exome cases
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Published research Computational Biology Genetics and HealthFebruary 2020Reviewing the Pathogenic Potential of the Otitis-Associated Bacteria Alloiococcus otitidis and Turicella otitidis
There is insufficient evidence available to determine whether these organisms are pathogens, commensals or contribute indirectly to the pathogenesis of OM
Published research Ear Infections Genetics and HealthOctober 2018Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years
We provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility
Published research Alcohol and Pregnancy and FASD Research Genetics and Health Child EpidemiologyOctober 2018Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years
Undescended testes is associated with an increased risk of testicular cancer and male infertility, and decreased paternity
Published research Alcohol and Pregnancy and FASD Research Genetics and Health Child EpidemiologyJuly 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 HealthJuly 2018Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) Study
The relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.
Published research Ear Infections Autism Research Ear Health Genetics and HealthFebruary 2018A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial genera
We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
Published research 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 HealthFebruary 2017Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort study
Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood
Published research Breastfeeding Ear Infections Autism Research Genetics and HealthApril 2017Analysis of expression of FLI1 and MMP1 in American cutaneous leishmaniasis caused by Leishmania braziliensis infection
MMP1 is regulated by factors other than FLI1, and that the influence of IL-6 on MMP1 was independent of its effect on FLI1 in Leishmania braziliensis
Published research Infectious Diseases Genetics and HealthMay 2017Early childhood development of boys with genital anomalies
We found no increased risk of poor development among boys with hypospadias or undescended testis
Published research Genetics and HealthSeptember 2017Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.
disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.
Published research Genetics and HealthDecember 2017Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro
Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease.
Published research Genetics and HealthNovember 2016No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene
The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children
Published research Genetics and HealthApril 2016Reference genotype and exome data from an Australian Aboriginal population for health-based research
This data set provides a useful reference point for genomic studies on Aboriginal Australians
Published research Aboriginal Health Computational Biology Genetics and HealthJanuary 2016The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service
The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
Published research Computational Biology Genetics and HealthJanuary 2016The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil
TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups
Published research Genetics and HealthJanuary 2016Age at surgery and outcomes of an undescended testis
We investigated the prevalence of UDT and examined rates of surgery and age at surgery in an Australian population.
Published research Alcohol and Pregnancy and FASD Research Genetics and HealthJanuary 2015Epigenetics in infectious diseases
Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.
Published research Infectious Diseases Genetics and HealthJanuary 2015Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia
Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).
Published research Academic Biostatistics Nutrition Alcohol and Pregnancy and FASD Research Cancer Epidemiology Genetics and HealthApril 2015Genetic and environmental factors in the aetiology of hypospadias
The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the...
Published research Assisted Reproductive Technologies Genetics and HealthApril 2015Prevalence and risk factors for parent-reported recurrent otitis media during early childhood
The prevalence of parent-reported rOM was 26.8% (611/2280) and 5.5% (125/2280) for severe rOM in the Study.
Published research Ear Infections Autism Research Genetics and HealthMarch 2015Folate pathway gene polymorphisms and risk of childhood brain tumors: Results from an Australian case-control study
Recent research suggests that maternal folic acid supplementation is associated with a reduced risk of childhood brain tumors (CBT); polymorphisms in folate...
Children's Cancers Published research Academic Biostatistics Alcohol and Pregnancy and FASD Research Brain Tumour Research Cancer EpidemiologyMarch 2015First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes
A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians.
Published research Aboriginal Health Diabetes and Obesity Genetics and HealthOctober 2014Prevalence and risk factors for parent-reported recurrent otitis media during early childhood
The objective was to describe the prevalence and risk factors of recurrent otitis media (rOM) in an urban Australian population at 3 years of age.
Published research Autism Research Genetics and HealthOctober 2014Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures
The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.
Children's Cancers Published research Academic Biostatistics Cancer Epidemiology Genetics and HealthMay 2014Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of Brazil
This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...
Published research Infectious Diseases Genetics and HealthFebruary 2014Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3
Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.
Published research Genetics and HealthJanuary 2014Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in Brazil
This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil.
Published research Infectious Diseases Genetics and HealthAugust 2013A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family
We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
Published research Academic Biostatistics Genetics and HealthJune 2013Genetic and epigenetic susceptibility to early life infection
To date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological...
Published research Infectious Diseases Genetics and HealthMay 2013Alternative Recruitment Strategies Influence Saliva Sample Return Rates in Community-Based Genetic Association Studies
Using data from three large-scale genetic association studies we compared recruitment strategy and sample return rates.
Published research Genetics and HealthJanuary 2013Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian population
Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear.
Published research Ear Infections Genetics and HealthDecember 2012Genetic Research and Aboriginal and Torres Strait Islander Australians
Human genetic research promises to deliver a range of health benefits to the population. Here we consider how the different levels of Indigenous research...
Published research Aboriginal Health & Wellbeing Aboriginal Health Genetics and HealthDecember 2012New findings in the pathogenesis of otitis media
This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM
Published research Ear Infections Vaccine Trials Group Genetics and HealthSeptember 2012Statistical adjustment of genotyping error in a case-control study of childhood leukaemia
Genotyping has become more cost-effective and less invasive with the use of buccal cell...
Children's Cancers Published research Academic Biostatistics Cancer Epidemiology Genetics and HealthJuly 2012Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil
Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing...
Published research Genetics and HealthMarch 2012Genetic susceptibility to otitis media in childhood
Reviewed in this article these studies have identified positive association at 21 genes with association at five of these replicated in independent populations.
Published research Ear Infections Genetics and HealthJanuary 2012Genome-Wide Association Study to Identify the Genetic Determinants of Otitis Media Susceptibility in Childhood
We identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes.
Published research Ear Infections Genetics and HealthDecember 2011Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India
IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of...
Published research Genetics and HealthOctober 2011FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in Brazil
Mapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing.
Published research Genetics and HealthJuly 2011FBXO11, a regulator of the TGFΒ pathway, is associated with severe otitis media in Western Australian children
Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection
Published research Ear Infections Genetics and HealthMarch 2011Genetic and functional evidence implicating DLL1 as the gene that influences susceptibility
Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified...
Published research Infectious Diseases Genetics and HealthFebruary 2011Unraveling the genetics of otitis media: From mouse to human and back again
Otitis media (OM) is among the most common illnesses of early childhood, characterised by the presence of inflammation in the middle ear cavity...
Published research Ear Infections Genetics and HealthJuly 2010Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis
Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated
Published research Genetics and HealthJuly 2010The -2518bp promoter polymorphism at CCL2/MCP1 influences susceptibility to mucosal but not localized
Mucosal leishmaniasis (ML) follows localized cutaneous leishmaniasis (CL) caused by Leishmania braziliensis.
Published research Genetics and HealthJune 2010P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophages
The P2X7R is highly expressed on the macrophage cell surface, and activation of infected cells by extracellular ATP has been shown to kill intracellular bacte
Published research Genetics and Health -
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