Rare diseases are defined as conditions affecting no more than 5 per 10,000 people (although in actuality, many of these disorders affect are much rarer, with sometimes only a handful of cases per country or even globally). Although the number of people living with any single rare disease will by definition be small, the fact that there are 6-8000 separate diseases under this umbrella of ‘rare’ means that these conditions pose a major public health and social challenge.
The core focus of the John Walton Muscular Dystrophy Research Centre (henceforth JWMDRC) is, naturally enough, Neuromuscular diseases (NMDs), particularly inherited conditions. Our NMD standing is echoed for other diseases/groups of diseases across our University, such as Mitochondrial diseases, rare renal conditions, rare liver, rare bone, etc.
However, for many years the JWMDRC -and by extension, Newcastle University as a whole- has shaped a unique reputation as a seat of ‘rare disease’ expertise, housing individuals with a strong understanding of the policy and strategic framework in which individual RD research and exemplary care can take place (indeed, in some cases our Centre actively builds this framework ).
Our current rare disease initiatives can be explored below:
In 2018, as a result of a Pilot Project adopted by the European Parliament, the European Commission (DG SANTE) issued a call for a ‘Foreign Study’ dedicated to rare disease policy. A consortium was created, led by EURORDIS, and in July 2018 the proposal was approved. The project is expected to just from 1st January 2019 until 31st December 2020, and have a total budget of over €2.1 million. The goal of the project is to employ innovative research-based methods to best support future policy decisions in the field of rare diseases. Drivers of change and determinants of health for people with rare diseases – both ‘traditional’ i.e. well-known determinants and ‘wild card’ factors have been identified and ranked, to develop policy scenarios for the years leading up to 2030.
The partners will then use these scenarios to prepare recommendations to guide future policy by using the participatory foresight approach and additional innovative consensus-building methods, encouraging broad and sustainable uptake by patients, all relevant stakeholders, (in particular policy makers) and society at large.
Newcastle University (Victoria Hedley and Volker Straub) lead on the knowledge generation workstreams, establishing and working with a 200-strong panel of experts. You can find some of our key outputs here:
A disease is called rare when it affects less that 5 in 10,000 persons. Knowing this number, it is easy to think that patients affected by a rare disease have to cope with isolation, reduced therapeutic options, long time for the diagnosis. And their families have to face the same isolation and a hard 24/7 care.
Nevertheless, there are other numbers that may help to give a different perspective. For example, the number of know rare diseases is likely to be between 6,000 and 8,000. This means that 1 in 17 people are affected by a rare disease, so that, about 30 millions of people deal with a rare disease only in the European Union.
Share4Rare (S4R) is a collective online platform that wants to improve the quality of life of patients and families affected by a rare disease through their active participation in generating and sharing scientific knowledge. In S4R, patients and families are in direct contact with researchers and clinicians, acting themselves as researchers of their own disease. Moreover, they can share their experiences with other people in the same situation and stay in contact with them.
Project lifetime: Jan 2018-end of Jan 2020
In essence, these are large, pan-European networks connecting expert centres for broad groups of rare diseases (e.g rare bone disease). Newcastle as a city is leading the field in ERNs – no other Centre anywhere in Europe coordinates as many ERNs . The Coordination Team for the Neuromuscular ERN is based in the JWMDRC.
RD-Connect set out to address the fragmentation and lack of interoperability between precious RD data sources, principally -omics data (especially genomic data from next generation sequencing), detailed clinical descriptions (i.e. phenotypic data), data contained in registries, and biosamples. To fill these gaps, RD-Connect created a global RD research platform, to link data from disparate sources and combine it using state of the art bioinformatics and interoperability expertise. The platform currently contains over 3000 cases, enabling complete clinical profiles to be linked with -omics data and information on biosamples for the same patient: it plays a major role in achieving the research goals of the International RD Research Consortium (IRDiRC).