Genetic and multi-omic discovery

Investigating the biology underlying imaging phenotypes and ophthalmic/systemic disease

I use genetic, metabolomic, and other omics datasets to investigate the biological processes underlying imaging-derived phenotypes and ophthalmic and systemic disease.

A central aim of this work is to move beyond statistical association: identifying potential causal relationships, clarifying disease mechanisms, and finding biological pathways that may support future therapeutic or diagnostic research.

Our genome-wide association studies have explored the genetic determinants of retinal layer thickness(Julian et al., 2025), foveal morphology(Green et al., 2025), and deep learning-derived ophthalmic imaging features(Julian et al., 2026).

I have also used causal inference methods to investigate potentially modifiable disease risk factors, including work examining the relationship between strenuous exercise and motor neuron disease(Julian et al., 2021; O’Brien et al., 2025).

References

2026

  1. Journal article
    Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits
    Thomas H Julian, Haoran Dou, Jinming Duan, and 15 more authors
    Nature Cardiovascular Research, 2026
    DOI

2025

  1. Journal article
    Pigmentation and retinal pigment epithelium thickness: a study of the phenotypic and genotypic relationships between ocular and extraocular pigmented tissues
    Thomas H Julian, Tomas Fitzgerald, UK Biobank Eye and Vision Consortium, and 2 more authors
    Pigment Cell & Melanoma Research, 2025
  2. Preprint
    Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration
    David J Green, David Romero-Bascones, Thomas H Julian, and 8 more authors
    medRxiv, 2025
    Preprint
  3. Journal article
    Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis
    David O’Brien, Elham Alhathli, Ceryl Harwood, and 8 more authors
    Brain, 2025

2021

  1. Journal article
    Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
    Thomas H Julian, Nicholas Glascow, A Dylan Fisher Barry, and 8 more authors
    EBioMedicine, 2021