Project ID iCASE2026_05_CM-HD

ThemeCM-HD

Co Supervisor 1A Professor Frances Williams Faculty of Life Sciences & Medicine, School of Life Course & Population Sciences, Department of Twin Research & Genetic EpidemiologyEmail

Co Supervisor 1B Dr Cristina Menni Faculty of Life Sciences & Medicine, School of Life Course & Population Sciences, Department of Twin Research & Genetic EpidemiologyEmail

Partner Supervisor Dr Chanchal Kumar

Partner Grünenthal GmbH

Multiomics for precision medicine in chronic pain

Chronic pain – defined as pain lasting more than 3 months – exerts an enormous personal and economic burden, affecting >30% of people worldwide. People with chronic pain do not respond uniformly to treatments and current pain therapies are suboptimal given the substantial patient-specific differences in drug response. Mechanisms underlying patient-specific drug response remain elusive, with a broad range of genetic and environmental factors making a contribution. Patient-specific factors are understood to be another fundamental contributor and driver of differential drug response among individuals, highlighting the growing importance of deploying precision medicine in managing chronic pain.

TwinsUK is a large cohort of same-sex adult twin pairs aged 18-104 years comprising ~15,000 participants years with detailed, longitudinal health records and omics data available. In addition, ~2500 twin participants have objective measures of pain sensitivity (quantitative sensory testing, QST). The study provides a unique resource to (i) explore novel disease and target hypotheses (ii) genetically validate pain pathways, and (iii) elucidate the pathophysiology of human chronic pain.

Aim of the Project: the student will apply artificial intelligence (AI), in particular machine learning (ML)-based data integration techniques, to measures of genomics and other omics collected longitudinally in TwinsUK participants. The aim is to understand and guide development in precision medicine for chronic pain. Specifically, they would develop and apply ML algorithms for system-level integration of multiomic datasets from TwinsUK to:-
(i) characterize molecular entities (genes, proteins etc) and pathways that drive chronic pain
(ii) allow clinical stratification of pain phenotypes leveraging molecular data and biomarkers
(iii) leverage computational methods to elucidate molecular heterogeneity unique to each individual, and prediction of individual-specific response to pain drugs and therapies
(iv) compare and benchmark their computational approach with other state-of-the-art ML approaches
(v) devise replication and confirmation studies using publicly available datasets such as UK Biobank (UKB).

Techniques and Skills Learnt: genomics, multiomics, machine learning, computational biology

Overarching yearly objectives:
(i) Y1: Gain complete understanding of existing TwinsUK data sets and previous research; develop ML approaches for multimodal high dimensional omic datasets
(ii) Y2: Implement ML techniques with a focus on pain phenotypes, datasets and assessments eg. QST to generate hypotheses relevant to chronic pain
(iii) Y3: Compare and benchmark hypotheses against complementary datasets (eg. UKB) and developed computational methods
(iv) Y4: Publish in high impact journal(s) and write up thesis for submission.

Representative Publications

Co-1A
1. Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain. Rahman MS et al. Ann Rheum Dis. 2021 Sept; 80(9) 1227-35. doi: 10.1136/annrheumdis-2020-219624
2. Associations between gut microbiota and genetic risk for rheumatoid arthritis in the absence of disease: a cross-sectional study. Philippa M Wells et al . Lancet Rheumatol 2020 25;2(7):e418-e427 DOI: 10.1016/S2665-9913(20)30064-3
3. Sex- and age-specific genetic analysis of chronic back pain. Maxim B Freidin et al. Pain 2021 Vol. 162 Issue 4 Pages 1176-1187. DOI: 10.1097/j.pain.0000000000002100

Co-1B
1. Genetic and gut microbiome determinants of SCFA circulating and faecal levels, postprandial responses and links to chronic and acute inflammation. Nogal A, [24 authors], Menni C. Gut microbes, 2023. https://doi.org/10.1080/19490976.2023.2240050.
2. Machine learning integration of multimodal data identifies key features of blood pressure regulation. Louca P, [7 authors], Menni C. EBioMedicine. 2022 Oct;84:104243. doi: 10.1016/j.ebiom.2022.104243.
3. Zierer J, [11 authors], Menni C. The fecal metabolome as a functional readout of the gut microbiome. Nat Genet. 2018 Jun;50(6):790-795. doi: 10.1038/s41588-018-0135-7.