Abstract: There is described a vector for treating a ciliopathy such as Bardet-Biedl syndrome, wherein the vector comprises a promoter operably linked to a ciliopathy gene, wherein the vector can provide transduction of the ciliopathy gene into multiple organs, wherein the promoter is a ubiquitous promoter which can provide expression of the ciliopathy gene in the transduced organs, and wherein the ciliopathy gene encodes a functional protein corresponding to the protein that is mutated in the ciliopathy. Also described is the use of the above vector in a method of treating a ciliopathy, the method comprising administering a therapeutically effective amount of the vector to a patient suffering from a ciliopathy.

Abstract: There is described a vector for treating a ciliopathy such as Bardet-Biedl syndrome, wherein the vector comprises a promoter operably linked to a ciliopathy gene, wherein the vector can provide transduction of the ciliopathy gene into multiple organs, wherein the promoter is a ubiquitous promoter which can provide expression of the ciliopathy gene in the transduced organs, and wherein the ciliopathy gene encodes a functional protein corresponding to the protein that is mutated in the ciliopathy. Also described is the use of the above vector in a method of treating a ciliopathy, the method comprising administering a therapeutically effective amount of the vector to a patient suffering from a ciliopathy.

Abstract: The present invention relates to the identification of a gene, designated BBS1O, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS, also are described.