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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 ).

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