My lab is mainly interested in the genetic and immune basis of diseases that present with severe skin inflammation. Some of these conditions (e.g. eczema) are common among children and have a very significant impact on their quality of life. Others are rare but can affect multiple organs (autoinflammatory syndromes) or become potentially life-threatening (generalized pustular psoriasis). We also study a rare form of heart inflammation known as recurrent pericarditis.
We use a variety of genetic and computational approaches to identify disease drivers and determine whether they can be blocked with existing drugs. Where some treatments are available, we seek to characterize the causes of incomplete efficacy and adverse events. Moving forward, we plan to investigate how skin color diversity influences disease mechanisms and response to treatment, to ensure that our discoveries benefit affected individuals, regardless of their ethnicity.
A genome-wide meta-analysis of palmoplantar pustulosis implicates TH2 responses and cigarette smoking in disease pathogenesis
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2024.05.015
2024
International Consensus Definition and Diagnostic Criteria for Generalized Pustular Psoriasis from the International Psoriasis Council
JAMA Dermatology
DOI: 10.1001/jamadermatol.2024.0915
2024
A genome-wide meta-analysis of palmoplantar pustulosis implicates Th2 responses and cigarette smoking in disease pathogenesis
medRxiv
DOI: 10.1101/2024.01.17.24301406
2024
Inflammatory memory in psoriasis: From remission to recurrence
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2024.05.008
2024
Single-cell analysis of psoriasis resolution demonstrates an inflammatory fibroblast state targeted by IL-23 blockade
Nature Communications
DOI: 10.1038/s41467-024-44994-w
2024
Cover Image
Experimental Dermatology
Siew Eng Choon and Peter Seah Keng Tok and Kit Wan Wong and Yee Ting Lim and Nalini M. Nanu and Jonathan N. Barker and Francesca Capon
DOI: 10.1111/exd.14905
08/2023
Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia
Experimental Dermatology
DOI: 10.1111/exd.14776
2023
Are Janus kinase inhibitors an effective treatment for palmoplantar pustulosis? A critically appraised topic
British Journal of Dermatology
DOI: 10.1093/bjd/ljac130
2023
Nonadherence to systemic immune-modifying therapy in people with psoriasis during the COVID-19 pandemic: Findings from a global cross-sectional survey
British Journal of Dermatology
DOI: 10.1093/bjd/ljac144
2023
In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2023.06.191
2023
Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2022.07.031
2023
Single-cell analysis of psoriasis resolution reveals an inflammatory fibroblast state targeted by IL-23 blockade
medRxiv
DOI: 10.1101/2023.09.11.23295356
2023
A viewpoint on the genetic determinants of generalised pustular psoriasis
Experimental Dermatology
DOI: 10.1111/exd.14746
2023
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
medRxiv
DOI: 10.1101/2023.10.04.23296543
2023
The interleukin 1 receptor antagonist anakinra to reduce disease severity of palmoplantar pustulosis in adults: APRICOT RCT and PLUM mechanistic study
Efficacy and Mechanism Evaluation
Suzie Cro and Victoria Cornelius and Francesca Capon and Jonathan Barker and David Burden and Christopher Griffiths and Helen Jane Lachmann and Helen McAteer and Prakash Patel and Andrew Pink and Nick Reynolds and Richard Warren and Catherine Smith
DOI: 10.3310/MXPK2427
03/2022
Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two-staged, adaptive placebo-controlled trial (APRICOT)*
British Journal of Dermatology
DOI: 10.1111/bjd.20653
2022
Single-cell analysis implicates TH17-to-TH2 cell plasticity in the pathogenesis of palmoplantar pustulosis
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2022.04.027
2022
Differences in Clinical Features and Comorbid Burden between HLA-C*06:02 Carrier Groups in >9,000 People with Psoriasis
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2021.08.446
2022
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center
Journal of the American Heart Association
DOI: 10.1161/JAHA.121.024931
2022
Vaccine hesitancy and access to psoriasis care during the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey
British Journal of Dermatology
DOI: 10.1111/bjd.21042
2022
New genetic and clinical features of neonatal inflammatory skin and bowel disease 1
British Journal of Dermatology
DOI: 10.1111/bjd.21589
2022
Vaccine hesitancy and access to psoriasis care in the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey
medRxiv
DOI: 10.1101/2022.01.20.22269546
2022
Risk-mitigating behaviours in people with inflammatory skin and joint disease during the COVID-19 pandemic differ by treatment type: a cross-sectional patient survey*
British Journal of Dermatology
DOI: 10.1111/bjd.19755
2021
Factors associated with adverse COVID-19 outcomes in patients with psoriasis—insights from a global registry–based study
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2020.10.007
2021
Erratum: Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease (The American Journal of Human Genetics (2020) 107(3) (539–543), (S0002929720302299), (10.1016/j.ajhg.2020.06.020))
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2021.03.001
2021
Describing the burden of the COVID-19 pandemic in people with psoriasis: Findings from a global cross-sectional study
medRxiv
DOI: 10.1101/2021.05.04.21256507
2021
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2020.06.020
2020
Psoriasis and genetics
Acta Dermato-Venereologica
DOI: 10.2340/00015555-3384
2020
A randomised placebo controlled trial of anakinra for treating pustular psoriasis: Statistical analysis plan for stage two of the APRICOT trial
Trials
DOI: 10.1186/s13063-020-4103-z
2020
Association of clinical and demographic factors with the severity of palmoplantar pustulosis
JAMA Dermatology
DOI: 10.1001/jamadermatol.2020.3275
2020
IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2019.08.444
2020
Global reporting of cases of COVID-19 in psoriasis and atopic dermatitis: an opportunity to inform care during a pandemic
British Journal of Dermatology
DOI: 10.1111/bjd.19161
2020
Risk mitigating behaviours in people with inflammatory joint and skin disease during the COVID-19 pandemic differ by treatment type: A cross-sectional patient survey
medRxiv
DOI: 10.1101/2020.11.05.20226662
2020
Clinical and genetic differences between pustular psoriasis subtypes
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2018.06.038
2019
Reply
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2018.11.010
2019
A small population, randomised, placebo-controlled trial to determine the efficacy of anakinra in the treatment of pustular psoriasis: Study protocol for the APRICOT trial
Trials
DOI: 10.1186/s13063-018-2841-y
2018
The heterogeneous mutational landscape of pustular psoriasis
British Journal of Dermatology
DOI: 10.1111/bjd.16257
2018
Interleukin-36 promotes systemic Type-I IFN responses in severe psoriasis
bioRxiv
DOI: 10.1101/496851
2018
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
Human Molecular Genetics
DOI: 10.1093/hmg/ddx328
2017
European consensus statement on phenotypes of pustular psoriasis
Journal of the European Academy of Dermatology and Venereology
DOI: 10.1111/jdv.14386
2017
Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia
International Journal of Dermatology
DOI: 10.1111/ijd.13489
2017
An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target
Science Translational Medicine
DOI: 10.1126/scitranslmed.aan2514
2017
The genetic basis of psoriasis
International Journal of Molecular Sciences
DOI: 10.3390/ijms18122526
2017
Update on psoriasis immunopathogenesis and targeted immunotherapy
Seminars in Immunopathology
DOI: 10.1007/s00281-015-0539-8
2016
Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2015.11.026
2016
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production
Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2016.06.618
2016
Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris
Journal of Investigative Dermatology
DOI: 10.1038/jid.2015.288
2015
IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis: To the editor
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2014.09.043
2015
Genetics of Psoriasis
Dermatologic Clinics
DOI: 10.1016/j.det.2014.09.001
2015
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci
Nature Communications
DOI: 10.1038/ncomms8001
2015
AP1S3 mutations are associated with pustular psoriasis and impaired toll-like receptor 3 trafficking
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2014.04.005
2014
Generalized pustular eruptions: Time to adapt the disease taxonomy to the genetic architecture?
Journal of Investigative Dermatology
DOI: 10.1038/jid.2013.349
2014
Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris
Journal of Investigative Dermatology
DOI: 10.1038/jid.2013.285
2014
IL36RN mutations in generalized pustular psoriasis: Just the tip of the iceberg
Journal of Investigative Dermatology
DOI: 10.1038/jid.2013.361
2013
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes
Journal of Investigative Dermatology
DOI: 10.1038/jid.2012.490
2013
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis
Journal of Investigative Dermatology
DOI: 10.1038/jid.2013.44
2013
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
Nature
DOI: 10.1038/nature12170
2013
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
PloS one
DOI: 10.1371/journal.pone.0071690
2013
Psoriasis and other complex trait dermatoses: From loci to functional pathways
Journal of Investigative Dermatology
DOI: 10.1038/jid.2011.395
2012
Allele-specific cytokine responses at the HLA-C locus: Implications for psoriasis
Journal of Investigative Dermatology
DOI: 10.1038/jid.2011.378
2012
Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene
Journal of Investigative Dermatology
DOI: 10.1038/jid.2011.431
2012
The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: Charting the road ahead
British Journal of Dermatology
DOI: 10.1111/j.1365-2133.2012.10895.x
2012
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis
Human Molecular Genetics
DOI: 10.1093/hmg/dds344
2012
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Nature Genetics
DOI: 10.1038/ng.2467
2012
Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis
Human Molecular Genetics
DOI: 10.1093/hmg/ddr215
2011
The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans
PLoS ONE
DOI: 10.1371/journal.pone.0017160
2011
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.07.022
2011
Meta-analysis confirms the LCE3C-LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6
Journal of Investigative Dermatology
DOI: 10.1038/jid.2010.350
2011
A genome-wide asociation study identifies new psoriasis susceptibility loci and an interaction betwEn HLA-C and ERAP1
Nature Genetics
DOI: 10.1038/ng.694
2010
Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris
British Journal of Dermatology
DOI: 10.1111/j.1365-2133.2009.09429.x
2009
Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes
Genes and Immunity
DOI: 10.1038/gene.2009.51
2009
Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2007.12.023
2008
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
Journal of Medical Genetics
DOI: 10.1136/jmg.2007.053595
2008
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
European Journal of Human Genetics
DOI: 10.1038/ejhg.2008.86
2008
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
Human Molecular Genetics
DOI: 10.1093/hmg/ddn091
2008
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
Human Genetics
DOI: 10.1007/s00439-007-0397-0
2007
Filaggrin null alleles are not associated with psoriasis
Journal of Investigative Dermatology
DOI: 10.1038/sj.jid.5700817
2007
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
American Journal of Human Genetics
DOI: 10.1086/505952
2006
Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris
British Journal of Dermatology
DOI: 10.1111/j.1365-2133.2005.06882.x
2006
The long and winding road: Searching for non-MHC psoriasis susceptibility loci
Current Genomics
DOI: 10.2174/1389202053202102
2005
Fine mapping of the psoriasis susceptibility gene PSORS1: A reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6
Journal of Investigative Dermatology
DOI: 10.1111/j.0022-202X.2005.23729.x
2005
A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups
Human Molecular Genetics
DOI: 10.1093/hmg/ddh273
2004
Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus
Annals of Human Genetics
DOI: 10.1046/j.1529-8817.2004.00118.x
2004
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis
Journal of Medical Genetics
DOI: 10.1136/jmg.2004.018226
2004
An update on the genetics of psoriasis
Dermatologic Clinics
DOI: 10.1016/S0733-8635(03)00125-6
2004
Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility
Journal of Medical Genetics
DOI: 10.1136/jmg.40.6.447
2003
The International Psoriasis Genetics study: Assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs
American Journal of Human Genetics
2003
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre
BMC Medical Genetics
DOI: 10.1186/1471-2350-3-5
2002
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
Human Genetics
DOI: 10.1007/s00439-002-0812-5
2002
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
Human Molecular Genetics
DOI: 10.1093/hmg/11.5.589
2002
Searching for the major histocompatibility complex psoriasis susceptibility gene
Journal of Investigative Dermatology
DOI: 10.1046/j.1523-1747.2002.01749.x
2002
Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus
American Journal of Human Genetics
DOI: 10.1086/342289
2002
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
European Journal of Dermatology
2002
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.
European journal of dermatology : EJD
PubMed: 12459523
2002
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to ohuman chromosome 17p11
Human Genetics
DOI: 10.1007/s00439-002-0785-4
2002
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
American Journal of Human Genetics
DOI: 10.1086/341908
2002
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy
Genetic Testing
DOI: 10.1089/109065701750168662
2001
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5200707
2001
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21
Journal of Investigative Dermatology
DOI: 10.1046/j.1523-1747.2001.01311.x
2001
Dopamine D4 receptor (DRD4) in the determination of infant temperament
American Journal of Medical Genetics - Neuropsychiatric Genetics
2000
Mapping a dominant form of multinodular goiter to chromosome Xp22
American Journal of Human Genetics
DOI: 10.1086/303095
2000
Advances in the search for Psoriasis susceptibility genes
Molecular Genetics and Metabolism
DOI: 10.1006/mgme.2000.3031
2000
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5200547
2000
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13
Neurology
DOI: 10.1212/wnl.53.4.830
1999
Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: Exclusion of a candidate for familial psoriasis susceptibility
Human Genetics
DOI: 10.1007/s004390050925
1999
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1
Journal of Investigative Dermatology
DOI: 10.1046/j.1523-1747.1999.00471.x
1999
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
American Journal of Human Genetics
DOI: 10.1086/302505
1999
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21 [8]
American Journal of Human Genetics
DOI: 10.1086/302653
1999
Molecular prenatal diagnosis of neuromuscular disorders
Neuromuscular Diseases During Development
1997
Expression study of survival motor neuron gene in human fetal tissues
Biochemical and Molecular Medicine
DOI: 10.1006/bmme.1997.2590
1997
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation
Neurogenetics
DOI: 10.1007/s100480050004
1997
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families
Muscle and Nerve
DOI: 10.1002/(SICI)1097-4598(199603)19:33.0.CO;2-O
1996
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies
Clinical Chemistry
DOI: 10.1093/clinchem/42.4.643
1996
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
Neuromuscular Disorders
DOI: 10.1016/0960-8966(96)00350-1
1996
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
Human Mutation
DOI: 10.1002/(SICI)1098-1004(1996)7:33.0.CO;2-7
1996
Identification of multiple transcribed sequences from the spinal muscular atrophy region on human chromosome 5
Biochemical and Biophysical Research Communications
DOI: 10.1006/bbrc.1995.1041
1995
Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients
Biochemical and Biophysical Research Communications
DOI: 10.1006/bbrc.1995.2135
1995
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
Prenatal Diagnosis
DOI: 10.1002/pd.1970150121
1995
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13
Journal of Medical Genetics
DOI: 10.1136/jmg.32.3.216
1995
First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
Prenatal Diagnosis
DOI: 10.1002/pd.1970140608
1994
PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES
Pcr-Methods and Applications
1993
A tool for the molecular analysis of an early lethal disease: Slide-pcr in spinal muscular atrophy patients
Molecular and Cellular Probes
DOI: 10.1006/mcpr.1993.1032
1993
PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies
Genome Research
DOI: 10.1101/gr.3.3.211
1993
Gene identification in severe skin inflammation
Common inflammatory skin disorders such as eczema have a profound impact on quality of life. Meanwhile, rare forms of psoriasis (e.g. generalised pustular psoriasis) are potentially life-threatening.
We have been investigating the causes of these conditions by combining genetic approaches (genome-wide association studies, whole-exome sequencing) with the in-vitro and ex-vivo characterization of disease alleles. This integrated strategy has been very productive. For example, it has enabled us to identify IL-36 as a key disease driver and therapeutic target in generalised pustular psoriasis.
Mechanisms underlying response to biologics
Biologics that target specific disease drivers have revolutionised the treatment of skin diseases such as psoriasis. However, significant variability in drug response is observed across individuals.
To better understand the mechanisms underlying drug-induced remission and relapse, we are using single-cell omics to investigate early response to biologics. We have recently identified a fibroblasts population that rapidly reduces in frequency after treatment of psoriasis with IL-23/IL-17 blockers. To build on this work, we are currently investigating the cell states mediating the effects of IL-4/IL-13 inhibitors in atopic dermatitis (eczema).
Genetic basis of idiopathic recurrent pericarditis
Pericarditis is a caused by inflammation of the pericardial sac surrounding the heart. It presents with severe chest pain and is associated with significant morbidity. While an involvement of innate immune responses has been hypothesised, the causes of recurrent pericarditis remain poorly understood.
We are using genetic approaches to address this research gap and better understand disease mechanisms. By combining whole exome sequencing and gene editing, we are characterising a novel genetic determinant of recurrent pericarditis. Moving forward, we plan to expand this programme by investigating larger patient cohorts.
Principal Investigator. Developing ELVIS, a tool for ELucidating Variant Impact on Skin. Funding Source: British Skin Foundation PhD studentship
Co-Investigator. Dissecting shared mechanisms of drug action and response within the BEACON eczema multi-arm clinical trial: a single-cell approach. Funding Source: National Institute of Health and care Research (NIHR)
Principal Investigator. The role of IL-36 and Th2 cytokines in the pathogenesis of palmar-plantar pustulosis. Funding Source: Boehringer-Ingelheim
Principal Investigator. A single-cell dissection of the mechanisms underlying the ocular adverse effects of dupilumab in atopic dermatitis. Funding Source: Leo Foundation
Principal Investigator. The pathogenic role of interleukin-36 in Systemic Lupus Erythematosus. Funding Source: Versus Arthritis
Principal Investigator. Demonstrating the benefits of smoking cessation in psoriasis, a molecular approach. Funding Source: Psoriasis Association
Principal Investigator. The autoinflammatory basis of idiopathic recurrent pericarditis. Funding Source: British Heart Foundation
Saba Hosseini, Research Assistant
A pan-Canadian team has developed a new way to quickly find personalized treatments for young cancer patients, by growing their tumours in chicken eggs and analyzing their proteins.
The team, led by researchers from BC Children’s Hospital Research Institute and the University of British Columbia, is the first in Canada to combine these two techniques to identify and test a drug for a young patient's tumour in time for their treatment.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.