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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.