Athena Diagnostics, Inc.

The Johns Hopkins University

Duke University

Jeffrey George Jones

Susan Kimberly Allen

William K Seltzer

Narasimhan Nagan

Corey D Braastad

Hui Zhu

Sat Dev Batish

Normand J Robichaud

Christopher M Palatucci

Aidan Noel Hennigan

Kerry Ellen Flynn

John A Curran

Jing Wang

Jorge A Garcés

Miguel Garcia-Gonzalez

Jorge A Garces

Aidan N Hennigan

Kerry E Flynn

Margaret A Pericak-Vance

Gregory G Germino

Stephan Zuchner

Terry J Watnick

Miguel Garcia-Gonzales

Allison Ashley-Koch

Margaret Pericak-Vance

Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.

PKD mutations and evaluation of same

Methods of identifying polymorphisms associated with hereditary spastic paraplegia (SPG), are described. The polymorphisms associated with SPG include specific mutations in the receptor expression enhancing protein 1 (REEP1) gene. Also described are methods of diagnosis of SPG.

Identification of a novel gene underlying familial spastic paraplegia

The subject invention relates to nucleic acid sequences for detection of mutations in a PKD-1 or PKD-2 gene, as well as biomarkers for ADPKD. The invention further relates to methods for diagnosing ADPKD in an individual, and kits for performing the methods of the invention. The invention also provides a method for determining in an individual the presence or absence of a mutant PKD gene.

Compositions and methods for genetic analysis of polycystic kidney disease

The subject invention relates to methods for detection of mutations in a PKD gene using DHPLC. The invention includes the following aspects: identification of PKD unique sites; design of PKD-specific primers; amplification of PKD-specific products; and analysis of PCR amplified products by DHPLC. The invention further relates to compositions such as identified unique sites and PKD-specific primers, and kits for performing the methods of the invention.

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Wilbraham, MA, United States of America

Jeffrey George Jones