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Taylor group: Translational Genomics

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Translation of genetics research into clinical practice

Research overview

Oxford Biomedical Research Centre – Genomic Medicine Theme

Jenny Taylor

Professor Jenny Taylor is Co-Theme Leader of the Genomic Medicine Theme of the Oxford Biomedical Research Centre (BRC), one of several such centres in the UK funded by the National Institute of Health Research with the overarching aim of translating advances in biomedical research into NHS practice.

The aims of the Genomic Medicine Theme are to:

  • apply next-generation sequencing technologies (NGS) to the discovery of novel disease genes
  • evaluate and develop these technologies for rapid translation into the clinic, resulting in new NHS-based genetics services
  • provide genetics and genomics infrastructure (platforms and expertise) to support other translational research projects

Our research is truly multi-disciplinary, integrating researchers and clinicians (particularly those based at the Centre) from a range of medical specialities, with clinical scientists from the diagnostic laboratories, and others, including specialists in health economics, informatics, and ethics.

The activities of the Genomic Medicine Theme are divided into three sub-themes, each with a specific programme of collaborative projects.  Members of the Taylor group are involved across all three sub-themes, either running projects of their own or as collaborators in wider programmes.

Clinical applications of sequencing

Mechanisms to biomarkers

Technology translation

Our team

Selected publications

A Network Approach to Developmental Differences and Disorders.

Journal article

Deniz E. et al, (2026), Dev Sci, 29

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Journal article

Marianski K. et al, (2025), Human genetics, 145

Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

Journal article

Pagnamenta AT. et al, (2025), Clinical Genetics, 108, 86 - 91

Network Approach to Developmental Differences and Disorders

Preprint

Deniz E. et al, (2025)

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

Journal article

Blanco E. et al, (2025), Journal of Experimental Medicine, 222

Latest publications

A Network Approach to Developmental Differences and Disorders.

Journal article

Deniz E. et al, (2026), Dev Sci, 29

iNOS modulates inflammatory responses in an NO-independent manner through direct interaction with IRG1 in mitochondria.

Journal article

Diotallevi M. et al, (2026), Nat Metab

Severe Aortic Stenosis Is Associated With Left Atrial Prothrombotic Flow That Persists Despite Valve Replacement

Journal article

Spartera M. et al, (2026), Journal of the American Heart Association

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Journal article

Rius R. et al, (2026), Nature Genetics

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Journal article

De Jonghe J. et al, (2026), Nature

African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children.

Journal article

Muriuki JM. et al, (2026), Nat Commun

CMS subtypes correlate with complete response in trial of neoadjuvant Galunisertib plus chemoradiation in rectal cancer

Journal article

Rajamanickam V. et al, (2026), Translational Oncology, 66, 102690 - 102690

Paediatric case of invasive group A streptococcal necrotising myositis: diagnostic challenges and lessons learned

Journal article

Yusuf S. et al, (2026), The Lancet Infectious Diseases, 26, e259 - e267

Ethics Review of AI research: An approach to reviewing and revising existing governance structures

Journal article

Kerasidou A. et al, (2026), Research Ethics, 22, 357 - 370

Toward Integration of Molecular Measures and Artificial Intelligence-Based Assessments With Clinical End Points in Inflammatory Bowel Disease

Journal article

Reinisch W. et al, (2026), Gastroenterology, 170, 686 - 703

Related research themes

Translational genetics