The last day of February each year is International Rare Disease Day. Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with the huge and varied numbers of rare diseases. Since its creation in 2008, Rare Disease Day has played a crucial role in building an international rare disease community and the NIHR Newcastle BRC is proud supporter of the initiative.
A disease is rare when it affects fewer than 1 in 2000 people. Typically lack of scientific knowledge and reliable information on rare diseases leads to delays in diagnosis and the need for high-quality, specialised healthcare creates inequalities and barriers to accessing rare disease treatment and care. Also because of the wide diversity of rare disorders and the presence of relatively common symptoms that can mask an underlying rare disease, misdiagnosis is common. Also symptoms not only vary between different diseases but can also differ among patients with the same condition.
Over 300 million people globally have rare disease and only around 5-6 % of rare conditions have any sort of dedicated treatment. Additionally, too few of the treatments making it to market are transformative.
Besides lacking research and treatments, rare diseases also place a heavy burden on patients, across many aspects of daily life. A recent study of almost 10,000 people living with a rare disease across Europe (and beyond) shows that 8 out of 10 patients report having a disability but struggle not only to receive adequate care and support, but even to have their fundamental needs recognised.
Newcastle has long been a seat of clinical excellence and research for conditions classed as rare. In 2020, experts across both Newcastle University and the Newcastle Upon Tyne Hospitals NHS Foundation Trust came together to launch a ‘NUCoRE’ – Newcastle University Centre of Research Excellence for Rare Disease. This Centre now includes over 120 experts from a broad range of disease areas including neuromuscular, immunodeficiency, liver, renal, mitochondrial, bone, skin and more. It brings disease-specific experts together with individuals working in methodologies, technologies and disciplines like policy and sociology, which have a particular relevance to rare disease in order to foster new research ideas and address the significant remaining research gaps in rare disease. Together with other structures and initiatives across Newcastle, such as NUCore, NIHR Newcastle BRC, Newcastle Health Research Partners and the NIHR HealthTech Research Centre, the shared goal is to address the many challenges posed by rare disease.
The NIHR Newcastle BRC has a strong commitment to advancing research across a range of rare conditions. The Neuromuscular Disease, Rare Disease, and Mitochondrial Dysfunction research theme is focussed on two broad groups of rare conditions and works closely with the Rare Disease NUCoRE, led by Dave Jones, Volker Straub and Victoria Hedley. This has helped to identify and join up the rare disease research happening across the other BRC themes, including:
This allowing the NIHR Newcastle BRC to advance cross-cutting and cross-disease research. For instance, together with the Digital Health, Ageing Innovation and Inclusion theme, the Neuromuscular Disease, Rare Disease, and Mitochondrial Dysfunction theme is exploring digital health solutions and wearable sensors to measure gait and balance in conditions ranging from dysferlinopathies and other neuromuscular diseases, to mitochondrial diseases, to degenerative cerebellar ataxia & Friedreich’s Ataxia.
This activity rests upon a strong commitment to patient and public involvement and engagement (PPIE), which is particularly important in rare conditions, where patients are renowned as experts in their own right.
Newcastle experts recognise that increasing the pace of progress in r for a larger number of rare conditions, places a stronger emphasis on collaboration at the cross-rare-disease level and the BRC will continue to innovate in this space. An important ‘next step’ for the BRC Themes in 2025 will be to reach out to connect with rare disease research taking place in other BRCs, to see where new projects and collaborations could be identified.
How Newcastle experts are advancing rare disease research
Medical breakthrough unlocks rare disease discovery
I removed the link to them being member of the theme as Dave Jones is not getting funding.