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Jenefer Blackwell

Head, Genetics & Health

Jenefer Blackwell

Honorary Emeritus Fellow

BSc with First Class Honours, PhD, DSc, FMedSci, FAA

jenefer.blackwell@thekids.org.au

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 Kids Research Institute Australia 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 Kids Research Institute Australia 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.

Projects

Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities

Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

Rheumatic heart disease (RHD) following Group A Streptococcus (GAS) infections is heritable and prevalent in Indigenous populations.

Zika: Is there an underlying genetic/epigenetic basis to microcephaly and eye damage due to congenital Zika virus infection?

Our hypothesis is that congenital Zika virus infection dysregulates these genes early in the developing fetus.

Genetics of Otitis Media

To determine the genes that play a role in childhood susceptibility to severe OM we established the Western Australian Family Study of OM.

Understanding leishmaniasis through HLA

Visceral leishmaniasis is a parasitic disease found in resource poor regions of tropical countries and is life-threatening in susceptible individuals.

Influence of Toxoplasma gondii on host cell function

Toxoplasma gondii is a ubiquitous pathogen capable of infecting animals, including humans, & is a significant health burden in developed/developing countries

SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

Development and implementation of a person-centric Model of Care for people living with developmental anomalies and rare diseases in Western Australia.

Family Study of Ear Health and Metabolic Diseases in a Western Australian Aboriginal Community

To determine whether these extreme manifestations of disease are associated with rare or novel genetic variants in a Western Australian Aboriginal population.

Published research

Anti-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.

Common 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.

A 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.

Zika 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.

A 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.

Genetics, 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.

Reference 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.

Human 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

Reference 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

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Meta-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

Transcriptional 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

Transketolase 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

Determinants 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

HLA-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

Epigenetic 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

Arylsulphatase 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

Genome-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.

Epitope-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

An 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

Toxoplasma 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.

Toxoplasma 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.

Comparative 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.

Burkholderia 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.

Expression 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

Analysis 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

Comprehensive 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

A 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

Immunogenetics of Parasitic and Bacterial Disease

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis

Reference 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

Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan

Polygenic 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

The 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

Fine 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

The 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...

Polymorphism 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

Translating aboriginal genomics — four letters closing the gap

Establishing a genomic reference for Australian Aboriginal populations

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.

First 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.

Wound 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...

Epigenetics in infectious diseases

Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.

Insights 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

Genome-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...

Comparison 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...

The 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.

Host 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...

Genetic 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.

Examining 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.

Genome-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.

Genome-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.

A 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...

A "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.

Common 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...

Association 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.

Genetic 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.

Genetic 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...

Identification 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...

Common 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...

Cytokine 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

Common 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,...

Using 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...

Genetic 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.

Wound 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...

Genetic 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.

Genome-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.

Cytokine 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.

Genetic 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...

FLI1 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.

Candidate 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...

Interaction 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

Genetic 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...

FBXO11, 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

TLR1/2 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

Genetic 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...

Common 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...

Unraveling 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...

Dissection 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...

Classification 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...

A 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...

Evidence 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

The -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.

P2X7 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

Geographic 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

Interleukin 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.

CXCR1 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..

Education and Qualifications

BSc with First Class Honours in Zoology

PhD Population Genetics

Hon DSc (Khartoum)

ScD (Cantab)

Awards and Honours

The Chris Wright Medal (1994)

The Leverhulme Medal (2000),

Fellow UK Academy of Medical Science (FMedSci, 2000),

Honorary DSc from the University of Khartoum (2009),

DSc from the University of Cambridge UK (2010),

Fellow Australian Academy of Science (2015)

Vice Chancellor’s Senior Research Award, UWA (2015)

Active Collaborations

1P50AI074321-01 Sundar (PI); Blackwell (coPI) 01/08/07-31/07/17 $US 2,862,543
NIH Tropical Medicine Research Centre (TMRC): Visceral leishmaniasis in Bihar State, India.

WA Govt – TPCHRF Blackwell (PI) 01/01/15-31/12/16 $AUD192,505
Telethon Perth Childrens’ Hospital Research Fund: SeqNextGen: Translating NextGen sequencing for the diagnosis of developmental anomalies and rare diseases.

UK Medical Research Council Blackwell (PI) 01/01/16-31/12/19 £433,174 ($AUD874,727)
UK/Brazil initiative in tropical medicine: Discovering genes and functional pathways associated with American cutaneous leishmaniasis (ACL) caused by Leishmania brasiliensis.

Stan Perron Foundation Lassmann (PI); Blackwell (coPI) 01/11/16-31/12/18 $AUD500,000
The rare disease challenge: bringing the benefits of multi-omics approaches and big data to kids.