Analyzes genotype, proteomic, gene-expression, EHR and multi-omics data with statistical genetics and machine learning. Develops disease-risk prediction and systems-genomics methods for cardiovascular and respiratory disease.
Funded by Health Data Research UK, Baker Heart and Diabetes Institute +2 more
›
Health Data Research UK · active
“funded by Health Data Research UK”
Baker Heart and Diabetes Institute · active
“funded by the Baker Heart and Diabetes Institute and HDRUK”
Harding Distinguished Postgraduate Scholarship/Clinical Gerontology Fund · active
“supported by the Harding Distinguished Postgraduate Scholarship/Clinical Gerontology Fund”
Uses laser capture microdissection and genome sequencing. Compares somatic mutational landscapes across species to study ageing, cancer and environmental health.
11 papers since 2024
›
The long-term effects of chemotherapy on normal blood cells
Nature Genetics, 2025
Clonal dynamics and somatic evolution of haematopoiesis in mouse
Nature, 2025
Sperm sequencing reveals extensive positive selection in the male germline
Funded by Department of Genetics, University of Cambridge
›
Department of Genetics, University of Cambridge, Primate Comparative Genomics: Exploring Somatic Mutations and Ageing Across Evolutionary Timescales · 4-year; application deadline 07 January 2025
“The Department is delighted to offer a fully funded 4-year PhD studentship.”
Uses RNA sequencing, Olink, SomaScan and Metabolon Discovery HD4 data to study molecular traits. Targets cardiovascular disease and other common, complex diseases.
72 papers since 2024
›
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Genome-wide characterization of circulating metabolic biomarkers
Nature, 2024
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Develops statistical methods for genetic variants, proteomics, transcriptomics and longitudinal biomarker data. Applies them to disease mechanisms, drug targets and biomarkers.
49 papers since 2024
›
Performance of deep-learning-based approaches to improve polygenic scores
Nature Communications, 2025
A disease-associated gene desert directs macrophage inflammation through ETS2
Nature, 2024
Towards stratified treatment of JIA: machine learning identifies subtypes in response to methotrexate from four UK cohorts
Curates approved human gene symbols in the HGNC database and gene-group resources. Supports unambiguous scientific communication and electronic data retrieval.
18 papers since 2024
›
Expanding the human proteome with microproteins and peptideins
Nature, 2026
Genenames.org: the HGNC and PGNC resources in 2026
Nucleic Acids Research, 2025
High-quality peptide evidence for annotating non-canonical open reading frames as human proteins
Studies germline and somatic cancer genetics using large-scale omics, clinical data and bioinformatic tools. Builds cancer risk prediction and early-detection approaches.
Develops statistical models for electronic health records, spatial transcriptomics and multimodal phenotypic data. Applies them to precision medicine, population health and clinical trials.
Funded by Medical Research Council, Wellcome
›
Medical Research Council, MRC funding renewal bid · active
“Our MRC funding renewal bid, which has resulted in the award of 100% funding”
Wellcome, Wellcome Early-Career Award Fellowship · active
“His five-year Fellowship which will start in early 2027”
Integrates MRI, CT, genomic and transcriptomic techniques with machine learning and normative models. Targets lifespan brain health, neurodevelopment, ageing and neuropsychiatric conditions.
120 papers since 2024
›
Topological turning points across the human lifespan
Nature Communications, 2025
Cortical gene expression architecture links healthy neurodevelopment to the imaging, transcriptomics and genetics of autism and schizophrenia
Nature Neuroscience, 2024
Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction
Hosts genetic prediction models for metabolomics, proteomics and transcriptomics using INTERVAL and UK Biobank data. Supports polygenic-score analyses and PheWAS of complex phenotypes.
Funded by British Heart Foundation, Medical Research Council +5 more
›
British Heart Foundation, Programme Grant · active
“SCR is funded by a BHF Programme Grant (RG/18/13/33946).”
Medical Research Council, Aetiology and Mechanisms · active
“CL, MP, JL are funded by the Medical Research Council (MC_UU_00006/1 - Aetiology and Mechanisms).”
British Heart Foundation, Professorship · active
“JD holds a British Heart Foundation Professorship and a NIHR Senior Investigator Award.”
Uses CRISPR/Cas9 saturation genome editing, genetic screens and single-cell RNAseq to test variant effects in human cells. Targets diagnosis and treatment of children's neurodevelopmental conditions.
10 papers since 2024
›
Examining the role of common variants in rare neurodevelopmental conditions
Nature, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
Nature Genetics, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19
Studies obesity genetics in dogs, horses and farm animals using comparative genomics, molecular biology and physiological tests. Uses human biobank-scale populations and extreme-obesity cohorts to prioritize genes.
30 papers since 2024
›
Canine genome-wide association study identifies DENND1B as an obesity gene in dogs and humans
Science, 2025
Low resting metabolic rate and increased hunger due to β-MSH and β-endorphin deletion in a canine model
Science Advances, 2024
The impact of restricted grazing systems on the behaviour and welfare of ponies