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Developing new therapies for Batten disease (BATCure)

Start date: Jan 1, 2016, End date: Dec 31, 2018,

The goal of BATCure is to advance the development of new therapeutic options for a group of rare lysosomal diseases - neuronal ceroid lipofuscinoses (NCL) or Batten disease. There are > thousand affected across Europe, with a combined incidence of c.1:100 000. The NCLs are devastating and debilitating genetic disorders that mainly affect children, who suffer progressive dementia and motor decline, ...
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"Recently intense research identified around 4,000 single nucleotide polymorphisms (SNPs) associated with human age related diseases such as metabolic disorders. Despite their highly significant association to pathology, the functional role of these genetic variants is, in most cases, yet to be elucidated. The evolutionary distance of most animal models from humans represents a major limitation fo ...
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