NIHR Oxford Biomedical Research Centre

Enabling translational research through partnership

MENUMENU
  • About
    • About the NIHR Oxford Biomedical Research Centre
    • Activities during COVID-19
    • Strategic Partnership Board
    • Steering Committee
    • Promoting Equality, Diversity and Inclusion in Research
    • Current Vacancies
    • Contact Us
    • Stay in Touch
  • Research

        • Research Overview
        • Clinical Research Facility
        • 15 Research Themes

        • Cancer
        • Cardiovascular Medicine
        • Digital Health from Hospital to Home
        • Gene and Cell Therapy
        • Genomic Medicine
        • Imaging
        • Inflammation across Tissues
        • Life-saving Vaccines
        • Metabolic Experimental Medicine
        • Modernising Medical Microbiology and Big Infection Diagnostics
        • Musculoskeletal
        • Preventive Neurology
        • Respiratory Medicine
        • Surgical Innovation, Technology and Evaluation
        • Translational Data Science
  • Patient & Public Involvement
    • Getting involved with research
    • View and register for involvement opportunities
    • Patient & Public Groups
    • Patient and Public Involvement Advisory Group
    • Diversity in Research Group
    • Oxford Blood Group
    • Case Studies
    • PPIE Strategy
    • PPIE News
    • PPI Researcher Guidance
    • Researchers: Post a PPIE opportunity
  • Training Hub
    • Training Hub Overview
    • Clinical Academic Pathway
    • Internships
    • Preparatory Research Fellowships
    • Senior Research Fellowships
    • Research Training Bursaries
    • Doctoral Awards
    • Post-Doctoral Awards
    • Other funding
    • Leadership Training
    • Useful Links
    • Training and Education Resources
    • Upcoming Training Events & Courses
  • Industry
    • Collaborate with Oxford BRC
    • Who Do We Work With?
    • Events
    • Further Information and Additional Resources
    • Contacts for Industry
  • Videos
  • News
  • Events
Research Theme

Genomic Medicine

You are here: Home > Research Overview > Genomic Medicine > Sub-theme 1: Variant to Function to Diagnosis and Therapy

Sub-theme 1: Variant to Function to Diagnosis and Therapy

Lead: Professor Jenny Taylor

Oxford researchers played a major role in the development of the 100,000 Genomes Project, by pioneering the clinical translation of whole genome sequencing (WGS) for rare disease and cancer.

Currently, many patients with rare diseases are left without a timely and accurate diagnosis even after WGS. We are continuing our work looking for rare variants and novel disease genes – including using Oxford’s expertise in machine learning – and then conducting functional assays to understand what they do, with the eventual aim of devising treatments for patients with rare diseases.

A key partner in this work is the Oxford-Harrington Rare Disease Centre (OHC), whose mission is to deliver cures for rare diseases.

We are aiming to develop new laboratory methods and bioinformatic pipelines using machine learning to identify which variants cause disease and so increase the number of rare disease patients getting a diagnosis.

This will include in areas such as craniosynostosis, where the bones in a baby’s skull fuse too early; ciliopathies, a range of disorders associated with abnormal function of cilia in the cells; endocrine disorders, which affect the system of glands and organs that regulate the release of hormones; and the inherited cardiomyopathies.

This builds on the work already done around hypertrophic cardiomyopathy by Professor Hugh Watkins in uncovering the genetic changes that can cause sudden cardiac death in young people; and major funding he has received to develop a the first cure for these inherited heart muscle diseases.

We are conducting pilot studies to assess the feasibility of genetic screening programmes in newborns for devastating conditions such as spinal muscular atrophy (SMA) and congenital myasthenias. These will inform a planned Genomics England/NHS national newborn-screening programme. Our SMA screening pilot study, the first such in the UK, is already under way.

We are working with colleagues in the BRC’s Gene and Cell Therapy Theme to develop a new clinical gene editing pipeline that will accelerate the implementation of gene therapy clinical trials in a range of conditions, including immune deficiencies, lung and eye diseases

We are also looking to work with industry partners, such as through the Open Targets partnership, to identify and test new genetics-led drug targets that can allow neglected rare diseases to be treated. We are building on the Priority Index, a resource for genetic targets in immune-mediated disease, and working to validate our targets with the Centre for Medicines Discovery and Oxford’s experimental medicine Clinical Research Facility.

Genomic Medicine

  • Genomic Medicine
  • Sub-theme 1: Variant to Function to Diagnosis and Therapy
  • Sub-theme 2: Predictive and personalised medicine
  • Sub-theme 3: Bridging and enabling translation
  • Contacts
  • Videos
  • PPI Case Study
  • News

Subscribe to the Oxford BRC Newsletter

Keep informed about the work of the Oxford BRC by subscribing to our Mailchimp e-newsletter. It is produced several times a year and delivers news and information about upcoming events straight to your inbox.

Subscribe Now

Oxford BRC on Social Media

  • Facebook
  • LinkedIn
  • Twitter
  • YouTube

Feedback

We’d love to hear your feedback. Please contact us at obrcenquiries@ouh.nhs.uk

  • Data Control and Privacy
  • Accessibility
  • Our Partners
  • Disclaimer
  • Contact

Copyright © 2023 NIHR Oxford Biomedical Research Centre