Head, Genetics & Health
BSc with First Class Honours, PhD, DSc, FMedSci, FAA
Professor Blackwell's major interest is genetic epidemiology of infectious disease, and she has dedicated 40 years to research in neglected tropical diseases.
Professor Blackwell transitioned from postdoc to Reader at the London School of Hygiene and Tropical Medicine (1975-1991), continuously funded by a Wellcome Trust Senior Fellowship from 1982-1991.
She was recruited to the Glaxo Chair Molecular Parasitology at the University of Cambridge in 1991. Here she raised funds to build, and was Founding Director of, the Cambridge Institute for Medical Research (CIMR).
Professor Blackwell's appointment to Cambridge coincided with her role in promoting parasite genome projects. She chaired the WHO Leishmania Genome Consortium (1992-2003), promoting funding for genomic sequencing of L. major (Science, 2005), and establishing functional genomics including microarray expression profiling and screens for novel Leishmania vaccines.
Professor Blackwell has over 300 publications, including 196 original articles in refereed journals, 51 invited refereed reviews, 2 books, 22 invited book chapters, 15 major consortium papers as a primary author, and 36 as a consortium author. For 337 papers found in Google Scholar at 1 February 2018, 16,764 citations; H-index=68. She has published in Nature, Nature Genetics, Science, PLoS Genet, Lancet Infect Dis, J Exp Med, J Immunol, J Infect Dis, Blood, J Biol Chem, Eur J Immunol, and many other high-profile journals in her field. She has had 15 invitations in the last 5 years to speak internationally (USA, India, Brazil, Thailand, Malaysia, Spain) including a Gordon Research Conference, WorldLeish6, MEEGID XIV.
Professor Blackwell's contribution to tropical medicine was recognised by the Chris Wright Medal (1994), the Leverhulme Medal (2000), election as a Fellow UK Academy of Medical Science (FMedSci, 2000), the award of an honorary DSc from the University of Khartoum (2009), award of a DSc from the University of Cambridge UK (2010), election as a Fellow of the Australian Academy of Science (FAA, 2015), and recipient of a Vice Chancellor’s Senior Research Award, UWA (2015).
In 2007, Professor Blackwell joined the Telethon Kids Institute to establish a new Genetics and Health Laboratory. She remains an Affiliated PI at CIMR and in the Department of Pathology at the University of Cambridge where she currently holds a UK Medical Research Council grant to undertake a genome-wide association study of cutaneous leishmaniasis in Brazil. Professor Blackwell also holds a position at The University of Western Australia.
In addition to major projects studying risk factors for leishmaniasis in India and Brazil, projects undertaken at the Telethon Kids Institute include:
- Family-based studies of ear infection and metabolic disease in a WA Aboriginal community;
- Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities (Lead investigator: Jonathan Carapetis)
- The Aboriginal genetics study has provided unique opportunity for the development of novel and culturally appropriate methods of health education - watch the video The Goanna and the Journey of the Genes - Aboriginal Family Genetics and Health Study – Diabetes;
- SeqNextGen: Translating NextGen sequencing for the diagnosis of developmental anomalies and rare diseases;
- Toxoplasmosis: using transcriptomics and epigenetics to understand disease pathogenesis;
- Zika: Is there an underlying genetic/epigenetic basis to microcephaly and eye damage due to congenital Zika virus infection.
Jenefer is married to GP Simon Miles who worked for 7 years in remote area Aboriginal health and is currently working in aged care in Perth in a unique GP/Nurse Practitioner Collaborative. They have two children still residing in the UK, and 7 granddaughters.
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Projects
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Publications
July 2015
Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae
Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma.
Asthma Published research Immunisation Allergy & Infectious Diseases 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 HealthMarch 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 HealthMarch 2015Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil
Here we examined single nucleotide polymorphisms (SNPs) in these genes as risk factors for cutaneous (CL) and mucosal leishmaniasis (ML), and leishmaniasis...
Published research Genetics and HealthDecember 2014Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients
Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence
Published research Genetics and HealthSeptember 2014Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study
This genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
Published research Academic Biostatistics Vitamin D and Sunlight Inflammation Human Immunology Genetics and HealthJuly 2014Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data
Here we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...
Published research Genetics and HealthJuly 2014The correlation between reading and mathematics ability at age twelve has a substantial genetic component
Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
Published research 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 HealthNovember 2013Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.
Published research Genetics and HealthAugust 2013Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.
Published research 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 HealthMay 2013A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis
The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology.
Published research Genetics and HealthFebruary 2013Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis
A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three...
Published research Genetics and HealthJanuary 2013Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosis
We assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene.
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 HealthNovember 2012Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...
Published research Genetics and HealthOctober 2012Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly...
Published research Genetics and HealthOctober 2012Cytokine responses to novel antigens in a peri-urban population in Brazil exposed to Leishmania infantum chagasi
Visceral leishmaniasis (VL) is fatal if untreated, and there are no vaccines for this disease
Published research Genetics and HealthSeptember 2012Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,...
Published research Genetics and HealthAugust 2012Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease
Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits...
Published research Genetics and HealthAugust 2012Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in India
Chromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan.
Published research 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 HealthJanuary 2012Cytokine Responses to Novel Antigens in an Indian Population Living in an Area Endemic for Visceral Leishmaniasis
Here we employ whole blood assays to evaluate human cytokine responses to 11 of these antigens, in comparison to known defined and crude antigen preparations.
Published research Infectious Diseases 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 HealthSeptember 2011Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe)
To investigate whether variants in cardiovascular candidate genes, some of which have been previously associated with type 2 diabetes (T2D), diabetic...
Published research Genetics and HealthAugust 2011Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult
Published research Genetics and HealthAugust 2011Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically...
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 HealthJune 2011TLR1/2 activation during Heterologous prime-boost vaccination (DNA-MVA) enhances CD8+ T cell responses providing
Leishmania (Viannia) parasites present particular challenges, as human and murine immune responses to infection are distinct from other Leishmania species
Published research Immunisation Infectious Diseases 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 2011Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes
Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin...
Published research 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 HealthJanuary 2011Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21We performed...
Published research Genetics and HealthDecember 2010Classification and regression tree and spatial analyses reveal geographic heterogeneity
Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan...
Published research Genetics and HealthNovember 2010A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis...
Published research 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 HealthFebruary 2010Geographic information systems and applied spatial statistics are efficient
Applied Spatial Statistics used in conjunction with geographic information systems (GIS) provide an efficient tool for the surveillance of diseases
Published research Genetics and HealthJanuary 2010Interleukin 10 gene polymorphisms and development of post kala-azar dermal leishmaniasis in a selected sudanese population
Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment.
Published research Genetics and HealthJanuary 2010CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study
To look at the interplay between PMN and macrophages in disease progression in humans we asked whether polymorphisms at genes that regulate their infiltration..
Published research Genetics and HealthFebruary 2021Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly
The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
Published research Academic Biostatistics Infectious Diseases Genetics and HealthFebruary 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 HealthNovember 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 HealthMay 2021A Genome-wide Association Study Identifies SERPINB10, CRLF3, STX7, LAMP3, IFNG-AS1, and KRT80 As Risk Loci Contributing to Cutaneous Leishmaniasis in Brazil
Our goal was to identify genetic risk factors for cutaneous leishmaniasis (CL) caused by Leishmania braziliensis.
December 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 HealthNovember 2020Genetics, Transcriptomics and Meta-Taxonomics in Visceral Leishmaniasis
Visceral leishmaniasis (VL) caused by parasites of the Leishmania donovani complex can be fatal in susceptible individuals. Understanding the interactions between host and pathogen is one way to obtain leads to develop better drugs and for vaccine development. In recent years multiple omics-based approaches have assisted researchers to gain a more global picture of this interaction in leishmaniasis. Here we review results from studies using three omics-based approaches to study VL caused by L. donovani in India.
Published research Infectious Diseases Genetics and HealthOctober 2020Reference exome data for a Northern Brazilian population
Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
Published research Early Childhood Development Genetics and HealthJune 2020Human genetics of leishmania infections
GWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections
Published research Infectious Diseases Genetics and HealthApril 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 HealthMarch 2019Determinants for progression from asymptomatic infection to symptomatic visceral leishmaniasis: A cohort study
We confirmed the strong association between high DAT and/or rK39 titers and progression to disease among asymptomatic subjects
Published research Genetics and HealthFebruary 2019HLA-DR Class II expression on myeloid and lymphoid cells in relation to HLA-DRB1 as a genetic risk factor for visceral leishmaniasis
To understand how HLA-DR contributes to disease pathogenesis, we examined expression at the protein level in circulating myeloid and lymphoid cells of VL patients
Published research Genetics and HealthNovember 2019Personalised analytics for rare disease diagnostics
Here we focus on the problem of prioritising variants with respect to the observed disease phenotype
Published research Computational Biology Genetics and HealthSeptember 2019Meta-taxonomic analysis of prokaryotic and eukaryotic gut flora in stool samples from visceral leishmaniasis cases and endemic controls in Bihar State India
We evaluate a meta-taxonomic approach to determine the composition of prokaryotic and eukaryotic gut microflora using sequencing of 16S RNA and 18S rRNA
Published research Infectious Diseases Genetics and HealthAugust 2019Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation
The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation
Published research 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 HealthJuly 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 HealthApril 2018Epitope-Binding Characteristics for Risk versus Protective DRB1 Alleles for Visceral Leishmaniasis
Our data provide insight into the molecular mechanisms underpinning the association of HLA-DRB1 alleles with risk versus protection in visceral leishmaniasis in humans
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 HealthJanuary 2017Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil
Our results imply a role for IgG-mediated inflammation in determining delayed-type hypersensitivity associated with asymptomatic leishmaniasis
Published research Infectious Diseases 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 HealthJune 2017Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate
These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment
Published research Infectious Diseases Genetics and HealthAugust 2017Burkholderia pseudomallei evades Nramp1 (Slc11a1)- and NADPH oxidase-mediated killing in macrophages and exhibits Nramp1-dependent virulence gene expression
Here we show that transfected macrophages stably expressing wild-type Nramp1 (Nramp1+) control the net replication of B. thailandensis, but not B. pseudomallei.
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 HealthSeptember 2017Comparative analyses of whole genome sequences of Leishmania infantum isolates from humans and dogs in northeastern Brazil
Overall the analyses do not suggest individual sequence variants account for differences in clinical outcome or adaptation to different hosts.
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 HealthDecember 2017Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular Mimicry
Rheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.
Published research Group A Streptococcal & Rheumatic Heart Disease Genetics and HealthMay 2016Immunogenetics of Parasitic and Bacterial Disease
Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis
Published research Infectious Diseases Genetics and HealthMay 2016A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data
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 HealthFebruary 2016Polygenic risk of ischemic stroke is associated with cognitive ability
Findings from this study indicate that even in the absence of stroke, being at high polygenic risk of ischemic stroke is associated with lower cognitive ability
Published research Genetics and HealthJanuary 2016Translating aboriginal genomics — four letters closing the gap
Establishing a genomic reference for Australian Aboriginal populations
Published research Aboriginal Health & Wellbeing Aboriginal Health 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 2016Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil
The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis
Published research Genetics and HealthJanuary 2016The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis
These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...
Published research Genetics and HealthJanuary 2016Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children
Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia
Published research Genetics and Health -
Education and Qualifications
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