University of Iowa Research Foundation

Darryl Nishimura

Edwin M Stone

Val C Sheffield

Shiva Patil

Wallace L M Alward

Thomas L Casavant

Charles C Searby

Wallace L Alward

Kirk Mykytyn

Terry Braun

The present invention relates to the identification of a gene, now designated negevin (ngvn), 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. The human NGVN protein disclosed herein is 731 amino acids in length and is coded for by a gene spanning 17 exons. Homologs have been identified in mouse, rat, zebrafish. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.

Bardet-Biedl susceptibility gene and uses thereof

The present invention relates to the designation of ADP-ribosylation factor-like 6 as the BBS3 gene, 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 and in drug screening, also are described.

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.

Identification of a gene causing the most common form of bardet-biedl syndrome and uses thereof

Methods and compositions for treating a congenital heart disease and methods and compositions for prognosing or diagnosing a congenital heart disease in a subject are disclosed.

Methods to identify modulators of FKHL7 DNA-binding activity

Methods and compositions for treating glaucoma and methods and compositions for prognosing or diagnosing glaucoma in a subject are disclosed.

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Coralville, IA, United States of America

Darryl Nishimura