Jake Saklatvala

ORCID: 0000-0003-0836-4928
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About
Contact & Profiles
Research Areas
  • Psoriasis: Treatment and Pathogenesis
  • Asthma and respiratory diseases
  • Dermatology and Skin Diseases
  • Acne and Rosacea Treatments and Effects
  • melanin and skin pigmentation
  • Retinoids in leukemia and cellular processes
  • Hair Growth and Disorders
  • RNA regulation and disease
  • Cytokine Signaling Pathways and Interactions
  • IL-33, ST2, and ILC Pathways
  • Immunotherapy and Immune Responses
  • Health Systems, Economic Evaluations, Quality of Life
  • Biomedical Text Mining and Ontologies
  • Genomics and Rare Diseases
  • Mast cells and histamine
  • Skin Protection and Aging
  • T-cell and B-cell Immunology
  • Genetic Associations and Epidemiology
  • Cancer Genomics and Diagnostics
  • Herpesvirus Infections and Treatments
  • Pharmaceutical studies and practices
  • Pharmacological Effects of Natural Compounds
  • Colorectal and Anal Carcinomas
  • Adipokines, Inflammation, and Metabolic Diseases
  • Bioinformatics and Genomic Networks

King's College London
2018-2025

Guy's Hospital
2019

Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite dramatic recent increase in incidence the aetiopathogenesis FFA remains unknown. We undertake genome-wide association studies females from UK cohort, comprising 844 cases 3,760 controls, Spanish cohort 172 385 perform statistical meta-analysis. observe significant with at four genomic loci: 2p22.2, 6p21.1, 8q24.22 15q2.1. Within 6p21.1 locus,...

10.1038/s41467-019-09117-w article EN cc-by Nature Communications 2019-03-08

Abstract Psoriasis is a common, debilitating immune-mediated skin disease. Genetic studies have identified biological mechanisms of psoriasis risk, including those targeted by effective therapies. However, the genetic liability to not fully explained variation at robustly risk loci. To move towards saturation map susceptibility we meta-analysed 18 GWAS comprising 36,466 cases and 458,078 controls 109 distinct loci, 45 that been previously reported. These include variants loci in which...

10.1101/2023.10.04.23296543 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2023-10-05

Abstract Biologic therapies have transformed the management of psoriasis, but clinical outcome is variable leaving an unmet need for predictive biomarkers response. Here we perform in-depth immunomonitoring blood immune cells 67 patients with before and during therapy anti-TNF drug adalimumab, to identify mediators response evaluate their value. Enhanced NF-κBp65 phosphorylation, induced by TNF LPS in type-2 dendritic (DC) therapy, significantly correlates lack after 12 weeks treatment. The...

10.1038/s41467-021-25066-9 article EN cc-by Nature Communications 2021-08-06

Importance The epidemiological link between immune-mediated diseases (IMIDs) and cardiovascular disease has often been attributed to systemic inflammation. However, the direction of causality biological mechanisms linking with IMIDs are incompletely understood. Given robust association growing body supportive mechanistic evidence, psoriasis is an exemplary IMID model for exploring this relationship. Objective To assess bidirectional relationships genetic predictors 2 major forms disease,...

10.1001/jamacardio.2024.2859 article EN JAMA Cardiology 2024-09-18

Abstract Background Psoriasis is a common inflammatory skin disease with heterogeneous presentation. Up to 30% of individuals have severe greater surface area involvement, co-morbidity burden and impact on quality life. Prognostic biomarkers psoriasis severity could improve allocation clinical resources enable earlier intervention prevent progression, genetic biomarker would be cost-effective, stable over time, unaffected by treatment or comorbidity. Methods was studied in four European...

10.1101/2025.03.04.25323079 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2025-03-04

Targeted biologic therapies can elicit an undesirable host immune response characterized by the development of antidrug antibodies (ADA), important cause treatment failure. The most widely used across immune-mediated diseases is adalimumab, a tumor necrosis factor inhibitor. This study aimed to identify genetic variants that contribute ADA against thereby influencing In patients with psoriasis on their first course in whom serum had been evaluated 6-36 months after starting treatment, we...

10.1172/jci.insight.156643 article EN cc-by JCI Insight 2023-02-21

In dermatology and elsewhere, GWAS meta-analyses now routinely include data from large-scale population-based biobanks (Zhou et al., 2022Zhou W. Kanai M. Wu K.-H.H. Rasheed H. Tsuo K. Hirbo J.B. al.Global Biobank Meta-analysis Initiative: powering genetic discovery across human disease.Cell Genomics. 2022; 2100192Abstract Full Text PDF Scopus (41) Google Scholar). Many examples (Boutin 2020Boutin T.S. Charteris D.G. Chandra A. Campbell S. Hayward C. al.Insights into the basis of retinal...

10.1016/j.jid.2023.02.010 article EN cc-by Journal of Investigative Dermatology 2023-03-03

The genetic diagnosis of rare monogenic diseases using exome/genome sequencing requires the true causal variant(s) to be identified from tens thousands observed variants. Typically a virtual gene panel approach is taken whereby only variants in genes known cause phenotypes resembling patient under investigation are considered. With number gene-disease pairs exceeding 5,000, manual curation personalized panels exhaustive knowledge basis human phenotypic spectrum challenging. We present...

10.1002/humu.23413 article EN Human Mutation 2018-02-21

ABSTRACT Background Palmoplantar pustulosis (PPP) is an inflammatory skin disorder that mostly affects smokers and manifests with painful pustular eruptions on the palms soles. While disease can present concurrent plaque psoriasis, TNF IL-17/IL-23 inhibitors show limited efficacy. There therefore a pressing need to uncover PPP drivers therapeutic targets. Objectives To identify genetic determinants of investigate whether cigarette smoking contributes pathogenesis. Methods We performed...

10.1101/2024.01.17.24301406 preprint EN cc-by medRxiv (Cold Spring Harbor Laboratory) 2024-01-17

Abstract Introduction and aims Obesity is a chronic inflammatory state that highly prevalent in people with psoriasis. There evidence to suggest increasing levels of adiposity promotes the risk psoriasis development worsens disease severity. The degree which influences varies between individuals, it also unclear key genetic factors underpin this variation. Identifying could be mechanistically informative uncovering immunological pathways connecting This project explores hypothesis influence...

10.1093/bjd/ljae105.011 article EN British Journal of Dermatology 2024-05-17
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