The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Nov. 08, 2005
Filed:
May. 28, 2003
Val C. Sheffield, Iowa City, IA (US);
Kirk Mykytyn, Iowa City, IA (US);
Darryl Y. Nishimura, Coralville, IA (US);
Edwin M. Stone, Iowa City, IA (US);
Charles C. Searby, Iowa City, IA (US);
Val C. Sheffield, Iowa City, IA (US);
Kirk Mykytyn, Iowa City, IA (US);
Darryl Y. Nishimura, Coralville, IA (US);
Edwin M. Stone, Iowa City, IA (US);
Charles C. Searby, Iowa City, IA (US);
University of Iowa Research Foundation, Iowa City, IA (US);
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.