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
Staff at the John Walton Muscular Dystrophy Research Centre on Rare Disease Day 2018.
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 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).