see Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Massively parallel sequencing (MPS) continues to prove its worth in both the research and, increasingly, the clinical arena. This month we’re happy to bring you a report from Ghent and Brussels, Belgium, in which MPS was employed for early molecular diagnosis in patients with Leber congenital amaurosis (LCA). Like many of the hereditary eye diseases, LCA is highly genetically heterogeneous with at least 16 mutated genes thus far described. Defining the mutation responsible for LCA in any given patient is challenging and has taken on new urgency because of recent progress in gene therapy that requires knowledge of the responsible mutation.

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