Identification of a gene causing the most common form of bardet-biedl syndrome and uses thereof
US6962788B2 · kind B2 · utility
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41Claims
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Key dates
| Filing date | May 28, 2003 |
| Grant date | Nov 8, 2005 |
| Priority date | — |
| Expiry date | Mar 24, 2024 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The present invention relates to the identification of a gene, mutated at the most common locus now designated BBS1, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypogonadism, mental retardation, renal cancer and other renal abnormalities, retinopathy and polydactyly or limb deformities. The human BBS1 protein disclosed herein is composed of 17 exons and spans approximately 23 kb. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.