Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Rare diseases are a global health challenge. To address this, organisations around the world, including the Nuffield Department of Medicine (NDM), are working together to find solutions for patients.

Rare diseases are conditions that affect a small percentage of the population, and patients with rare diseases often struggle to access appropriate medical care and support. Because these conditions affect relatively few people, there is often limited research and development into new treatments, making it difficult for patients to access the care they need.

Together with other organizations, NDM is working towards finding solutions for rare diseases, utilizing its expertise in research, genomics, and therapeutic development to make a real difference to people living with rare diseases. Research is being conducted to better understand the underlying causes of these conditions and to identify new targets for intervention. The goal is to identify novel innovative treatments for potentially thousands of rare diseases and find a genetic diagnosis for everyone.

Dr Jenny Taylor, Associate Professor at NDM’s Wellcome Centre for Human Genetics, and Co-Theme Leader of the Genomic Medicine Theme of the Oxford Biomedical Research Centre (BRC), and her research group work on applying next-generation sequencing technologies (NGS) to the discovery of novel disease genes, developing technologies for rapid translation into the clinic, and providing genetics and genomics infrastructure to support other translational research projects.

Dr Taylor said: ‘‘When I started in this field around 20 years ago, we were literally just able to sequence one gene at a time, but now, the transformation from there to being able to offer a whole genome sequencing to patients, and to find a diagnosis is fantastic.’’

Through partnerships, the University of Oxford has committed to developing 20 new medicines for clinical trials over the next 10 years. The aim is to bridge the gap between genomics researchers and clinicians diagnosing and treating patients, and develop new diagnostic tools, therapies, and other interventions that can help patients with rare diseases.

Similar stories

Benemérita Universidad Autónoma de Puebla representatives visit Jenner Institute

Academic representatives from Benemérita Universidad Autónoma de Puebla (BUAP), one of the leading universities in Mexico, paid a visit to NDM’s Jenner Institute.

RECOVERY trial team wins the MRC Impact Prize

The Medical Research Council Prize Committee has awarded the RECOVERY trial team the MRC Impact Prize 2022 for Outstanding Team Impact.

Continued support to CPM helps it explore personalised medicine

The Dr Stanley Ho Medical Development Foundation will continue its funding support for The Centre for Personalised Medicine (CPM) for further seven years.

Coronavirus Vaccines Research and Development Roadmap launched

The Coronavirus Vaccines Research and Development Roadmap is a comprehensive plan to galvanize a global effort to protect the world from this large and dangerous family of viruses.

Lithuanian Ambassador visits the Ludwig Institute for Cancer Research

The Lithuanian Ambassador to the United Kingdom, His Excellency Mr Eitvydas Bajarūnas, paid a visit to Professor Skirmantas Kriaučionis of the Ludwig Institute for Cancer Research at the Nuffield Department of Medicine.

Multidisciplinary dengue forecasting project launches in Vietnam

DART (Dengue Advanced Readiness Tools), is a new project supported by Wellcome to use climate data to better predict and prepare for infectious diseases outbreaks.