Why Rare Diseases?
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, in recent 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 ).
This sort of ‘cross-cutting’ strategic and policy-oriented rare disease expertise can best be demonstrated through 3 key initiatives in which the JWMDRC at Newcastle plays a leading role: Joint Actions for Rare Diseases; European Reference Networks; and RD-Connect
‘Joint Actions’ for Rare Diseases (currently RD-ACTION: ‘Data and Policies for Rare Diseases’)
- A major achievement of the JWMDRC-led activity in RD-ACTION was support for the conceptualization and then implementation of pan-European expert Networks which, together, will provide a ‘home’ for each of the 8000+ RD.
- The concept of a ‘European Reference Network’ or ERN really gained shaped under the EUCERD Joint Action and RD-ACTION advanced this role substantially, by supporting the broader rare disease field to organise itself into a manageable number of robust, comprehensive ERNs.
- The Rare Disease team at JWMDRC played a key role in enabling 24 ERNs to be launched in 2017, marking a major innovation in care -and research- for Europe’s 30+ million RD patients.
- Having supported the creation of ERNs, the Policy & Integration workstream has continued to help the Networks address shared policy challenges through common approaches and solutions.
- The other major focus of the Newcastle team is reshaping and relaunching a crucial and unique resource in the rare disease field: the Resource on the State of the Art of Rare Disease Activities in Europe.
Staff at the John Walton Muscular Dystrophy Research Centre on Rare Disease Day 2018.
Find out more about Rare Disease Day
Find out more about our European research collaborations
European Reference Networks
European Reference Networks are an innovation in rare disease healthcare and research. 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: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research’
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).