Disease-associated protein

Details Disease-associated protein Disease-associated protein

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12N 15/63 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2443345

Disclosed are methods and compositions for early diagnosis, monitoring and treatment of retinal dystrophy, age -related macular degeneration, Bardet- Biedel syndrome, Bassen-kornzweig syndrome, best disease, chroidema, gyrate atrophy, congenital amourosis, refsun syndrome, stargardt disease and Usher syndrome. In particular, the invention relates to a protein, termed 2Rdcvf1," that is differentially transcribed and expressed in subjects suffering from retinal dystrophies and the like, such as retinal dystrophy and age -related macular degeneration compared with non- sufferers, antibodies which recongnize this protein, and methods for diagnosing such conditions.

L'invention concerne des procédés et des compositions destinés à un diagnostic, une surveillance et un traitement précoces de dystrophie de la rétine, de la dégénérescence maculaire liée à l'âge, du syndrome de Bardet-Biedel, du syndrome de Bassen-Kornzweig, de la maladie de Best, de la choroïde, de l'atrophie gyrée, de l'amaurose congénitale, de la maladie de Refsum, de la maladie de Stargardt et du syndrome de Usher. Plus précisément, l'invention concerne une protéine, appelée <=Rdcvf1>=, transcrite et exprimée demanière différente chez des sujets atteints de dystrophies de la rétine et analogues, telles qu'une dystrophie de la rétine et une dégénérescence maculaire liée à l'âge, comparativement à des personnes qui ne sont pas atteintes de telles maladies, ainsi que des anticorps reconnaissant cette protéine et des procédés de diagnostic de tels états.

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