Thomy de Ravel

TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.

TL;DR: In dogs, RPE65 gene therapy with the same vector at lower doses improved vision-guided behavior, but only higher doses resulted in improvements in retinal function that were detectable with the use of ERG, and comparison with the results obtained in the dog model indicates that there is a species difference in the amount of R PE65 required to drive the visual cycle.

TL;DR: A major new BBS locus is reported, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein and is found to be mutated in about 20% of an unselected cohort of families of various ethnic origins.

TL;DR: The Pitt-Hopkins syndrome is established as a distinct but probably heterogeneous entity caused by autosomal dominant de novo mutations in TCF4, which impaired the interaction of TCF 4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct.

TL;DR: A new BBS gene is identified, BBS12, which is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily, and is likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome.