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UK researchers highlight negative consequences of Brexit for the development of and access to medicines for orphan (rare) diseases in paediatrics.

UK researchers in Queens University Belfast (QUB) have published an article on the implications of a “no deal” Brexit for orphan and paediatric medicines.  The research, published in the British Medical Journal (BMJ), stressed that the impending exit of the UK from the EU “would have considerable adverse consequences on pharmaceutical research and development and […]

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Retinal gene therapy for X-linked retinoschisis showed that AAV8 treatment had positive safety and tolerability outcomes

Researchers at the NIH, National Eye Institute, Bethesda have reported a phase I/IIa study on the use of an AAV8 vector for ocular gene delivery for the treatment of X-linked juvenile retinoschisis (XLRS).  While the small 9-patient study was focused on safety and tolerability, one participant in the trial provided the first signal of possible […]

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Genotype-phenotype correlations in Stargardt disease highlight considerable complexity

Researchers at Radboud University Medical Center, Nijmegen, the Netherlands, have reported that phenotypic divergence between siblings with Stargardt disease (STGD1) carrying the same ABCA4 gene variants underscores the complexity of clinical management. The researchers have identified that fundus autofluorescence phenotypes can be highly comparable between siblings, while functional outcomes can differ substantially. According to the […]

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