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About Us

For anyone interested in the rare disease field, Newcastle University boasts expertise in several areas. We are always looking at how to improve still further.

What we offer

Newcastle houses world-leading expertise. We boast a combined rare disease funding track record of over £120 million across the past decade. We are leading in the discovery, diagnostics, treatment and care of many diseases and groups of disorders.

We have a tradition of translating underpinning science into novel therapies and integrated care delivery.

Newcastle offers unparalleled networking expertise. We played a key role in the launch of the European Reference Networks (ERNs). We established and coordinated three of the 24 Networks, more than any other centre in Europe. Our experts have unique insights into building and evolving diverse networks in care and research.

Newcastle experts play a unique role on the international rare disease stage. They shape and put in place policies to govern diagnostics, treatment, care, research and holistic support for rare diseases.

Why rare disease?

Individual rare diseases are, by definition, rare. However, there are an estimated 6-8,000 separate conditions classed as rare. This means that together they constitute a significant patient population. Approximately 1 in 18 people will be directly affected by a rare disease.

Furthermore, these are typically complex, multisystem conditions. Only 5% of them have any dedicated treatment options.

Patients often face difficulties in many areas, including:

  • obtaining an accurate diagnosis
  • finding a specialist able to provide the best possible care and treatment
  • simply managing daily activities

In short, the rarity of the conditions often results in significant inequities for people with rare diseases. COVID-19 has unfortunately exacerbated the situation.

'Each rare disease patient faces their own personal challenges. But there are often commonalities between conditions, both in patient experience and approaches to improving treatment. We established the Newcastle Centre for Rare Disease to give us  “beginning to end” capability. Across multiple diverse disease areas, we lead in innovation and spanning diagnostics to advanced therapeutics. And from basic science to clinical evaluation, implementation and policy.'

Centre Co-Lead Victoria Hedley

One of the Centre's key strengths is that we have experts working in particular disease areas. (see Our Disease Expertise). We unite them with experts working in disciplines essential for progress in rare disease. (For more detail, see Our Research).