Consolidating excellence in Rare Disease Research and Networking

There are between 6-8000 rare diseases (RD): these are largely genetic diseases, often affecting multiple organ systems and typically presenting in childhood. 95% of RD have no dedicated treatment option.

Collectively they constitute a major burden to patients and families, but also to society at large. Newcastle has a long history of research leadership and excellence in particular groups of RD, but we have traditionally lacked a single coherent identity and vehicles for cross-fertilisation of knowledge and expertise. Two key activities have been prioritised over the past few years, to create more cohesion across the NIHR Newcastle Biomedical Research Centre (BRC) Themes and the wider Newcastle RD community.

Firstly, Newcastle University played a key role in the conceptualisation and implementation of the 24 European Reference Networks (ERNs), pan-European structures designed to revolutionise RD care and research. Newcastle experts launched and coordinated 3 ERNs in Liver, Neuromuscular, and Immunodeficiencies/Autoimmune diseases, more than any other centre in Europe.

Building on this success, and to consolidate Newcastle’s unique strengths in RD and foster expertise in new disease areas, the Newcastle University Centre of Research Excellence for Rare Disease (NUCoRE RD) was launched in 2020. The Centre united over 90 experts from all Faculties and the Newcastle Hospitals. The NUCoRE RD centres on leadership in innovation, addressing research gaps and needs around diagnostics, translation and experimental medicine, ensuring a unique ‘beginning to end’ capability incorporating expertise in the design and execution of clinical research, delivering treatments, optimising care, and policy.

A major strength is the breadth of expertise now united and formalised in this Centre, which provides a single entry-point for external collaborators to engage with experts across myriad disease areas (rare immunodeficiencies/autoimmune, liver, neuromuscular, mitochondrial, renal, skin, eye, haematological, pulmonary, bone, endocrine and metabolic diseases) whilst also accessing unique cross-disciplinary expertise in trial methodology & statistical analysis, ethical legal & social issues, policy, regulatory issues, bioengineering, and much more.

The multidisciplinary approach of this Centre has already enabled the identification of research gaps and priorities embracing commonalities between diseases, pursuing a platform approach to knowledge generation and capacity building. This optimised Newcastle landscape will support greater collaboration across the NIHR Newcastle BRC Themes whilst boosting and streamlining the formation of new partnerships with academia, patients, and industry to deliver patient-centred research -and ultimately, better and more personalised care- for the 1 in 17 people directly affected by RD.