University of Washington

Other

Thomas D Bird

Phillip F Chance

Jeff D Goldy

Valerie A Street

Gerard D Schellenberg

Dong-Hui Chen

Wendy H Raskind

Zoran Brkanac

Rudolph Emile Tanzi

David J Galas

Wilma Wasco

Ephrat Levy-Lahad

Ellen M Wijsman

In one aspect, the invention provides methods of identifying genetic mutations that are associated with ataxic neurological disease. The methods comprise identifying a difference between a nucleic acid sequence of a protein kinase C gamma gene from a mammalian subject exhibiting ataxia and a nucleic acid sequence of a protein kinase C gamma gene from a subject which is not exhibiting ataxia, wherein the difference is a genetic mutation associated with ataxic neurological disease. In another aspect, isolated nucleic acid molecules encoding protein kinase C gamma missense mutations are provided. In another aspect, a method of screening a subject to determine if the subject has a genetic predisposition to develop an ataxic neurological disease is provided. In another aspect, the invention provides kits for determining susceptibility or presence of ataxic neurological disease in a mammalian subject.

Isolated nucleic acids and kits for identifying subjects susceptible to ataxic neurological disease

In one aspect, the invention provides methods of identifying genetic mutations that are associated with peripheral neurological disease. The methods comprise identifying a difference between a nucleic acid sequence of a small integral protein of the lysosome/late endosome ('SIMPLE') gene from a mammalian subject exhibiting peripheral neuropathy and a nucleic acid sequence of a SIMPLE gene from a subject which is not exhibiting peripheral neuropathy, wherein the difference is a genetic mutation associated with peripheral neurological disease. In another aspect, isolated nucleic acid molecules encoding SIMPLE missense mutations are provided. In another aspect, a method of screening a subject to determine if the subject has a genetic predisposition to develop Charcot-Marie-Tooth type 1C neuropathy is provided. In another aspect, the invention provides kits for determining susceptibility or presence of Charcot-Marie-Tooth type 1C neuropathy in a mammalian subject.

Methods for identifying subjects susceptible to charcot-marie-tooth neuropathy type 1C

Methods of identifying genetic mutations associated with charcot-marie-tooth neuropathy type 1C

Methods for identifying subjects susceptible to ataxic neurological disease

Methods for identifying subjects susceptible to Charcot-Marie-Tooth neuropathy type 1C

The present invention discloses nucleic acid molecules encoding AD4 gene products, expression vectors and host cells suitable for expressing such gene products. Also disclosed are methods for treating, preventing, and diagnosing Alzheimer's Disease.

Chromosone 1 gene and gene products related to Alzheimer's Disease

Method for isolating a DNA segment indicative of an Alzheimer's disease trait in a family population, wherein said family population consists essentially of a plurality of blood relatives of an individual having a chromosome 14 Alzheimer's disease trait, by: preparing a test sample of immobilized separated genomic DNA fragments from a plurality of the blood relatives, contacting each of the test samples with a test oligonucleotide under conditions permitting hybridization of complementary single stranded DNA molecules, wherein the test oligonucleotide is complementary with at least a portion of a genetic marker located between band q11.2 and band q32.1 in chromosome 14, identifying a plurality of hybridized molecules so formed as alleles of the genetic marker in the family population, identifying one of the genetic marker alleles as indicative of the Alzheimer's disease trait in the family population by either determining by pedigree analysis a segregation value for each of the genetic markers alleles and the Alzheimer's disease trait, and selecting an indicative genetic marker allele that co-segregates with the Alzheimer's disease trait in the family population, or measuring genetic linkage between each of the genetic marker alleles and the Alzheimer's disease trait, and selecting a genetic marker allele as indicative of the Alzheimer's disease trait in the family population if the selected genetic marker allele has a maximal LOD score of at least 3 at a recombination fraction of about 0.0 to about 0.1 for genetic linkage with the Alzheimer's disease trait in the family population, and isolating a chromosome 14 DNA segment containing the indicative genetic marker allele.

Chromosome 14 and familial Alzheimers disease genetic markers and assays

Growing community of inventors

Lake Forest Park, WA, United States of America

Thomas D Bird