Displaying results 1 - 6 of 6 items found.
1. Investigation of the Genetics of Scottie Cramp: DNA Sample Collection
(Web Page; Fri Aug 16 10:21:00 CDT 2019)
Description: Scottie cramp is an episodic disorder of Scottish Terriers that produces a dramatic increase in muscle tone with excitement or exercise. The cause of the disease is unknown, although pharmacologic studies suggest that abnormal signaling between neurons plays a role. The disease is hereditary and is transmitted by an autosomal recessive trait. As a result, carriers of the disease are clinically normal, and the trait has become widespread within the breed. A genetic test for the disease would allow selective breeding to eliminate the disease. In this project we will collect DNA samples from affected and normal Scottish Terriers for use in a future genetic study of the disease. A proposal for the second phase of the research will be submitted to AKC CHF at the next funding opportunity.
2. Investigation into the Genetics of Scottie Cramp: a Genome-Wide Association Study
(Web Page; Wed Aug 21 09:05:00 CDT 2019)
Description: Scottie Cramp is an episodic disorder of Scottish and Cairn Terriers that produces a dramatic increase in muscle tone with excitement or exercise. The cause of the disease is unknown, although pharmacologic studies suggest that abnormal signaling between neurons plays a role. The disease is hereditary and is transmitted as an autosomal recessive trait. As a result, carriers of the disease are clinically normal, and the abnormal genes have become widespread, especially within the Scottish Terrier breed. A genetic test for the mutated gene is needed to eliminate it from the population and could be used by both the Scottish and Cairn Terrier breeds. In this project we will genotype approximately 170,000 SNPs on DNA samples from affected and normal Scottish Terriers. These samples have been collected in an ongoing Acorn grant (CHF#1362-A) and in ongoing work on cerebellar degeneration in Scottish Terriers (CHF# 927). We will perform a genome-wide association study with the resulting data to identify regions associated with the disease. These regions will be fine mapped in additional dogs including Cairn Terriers, narrowing them to allow identification of candidate genes that will be sequenced. The goals are to identify the mutation that causes Scottie Cramp and to develop a genetic test for use by breeders.
3. Investigation into the Genetics of Scottie Cramp: Sequencing of Associated Chromosomal Regions
(Web Page; Wed Aug 21 09:05:00 CDT 2019)
Description: Scottie Cramp is an episodic disorder of Scottish Terriers that produces a dramatic increase in muscle tone with excitement or exercise. The cause of the disease is unknown, although pharmacologic studies suggest that abnormal signaling between neurons plays a role. The disease is hereditary and is transmitted by an autosomal recessive trait. As a result, carriers of the disease are clinically normal, and the trait has become widespread within the breed. A genetic test for the disease would allow selective breeding to eliminate the disease. In previous work we have collected DNA from affected dogs (grant 1362-A), and performed a genome-wide association analysis using SNP data (grant 0143) and have identified two regions significantly associated with Scottie Cramp. In this project we will sequence these region using deep sequencing techniques. We will use the resulting data to identify mutations associated with the Cramp phenotype and test these mutations for sensitivity and specificity of predicting affected, carrier and clear status.
4. Development of a DNA-Based Diagnostic Test for Carriers of Scotty Cramp
(Web Page; Wed Aug 21 09:05:00 CDT 2019)
Description:
In this project, researchers studied 19 candidate genes involved in serotonin metabolism to see if any were responsible for Scottie Cramp, a central nervous system disorder in which affected Scottish Terriers painlessly lose muscle control during periods of excitement. They found variation in nearly all of them; they can now test the variations against the DNA of affected dogs to try to exclude genes and identify the single gene causing the problem. If none of the candidate genes turns out to be the causative gene, they will do a whole genome linkage scan in a future project. As part of the project, researchers gathered pedigrees that will provide the groundwork for the scan.
(File; Fri Jan 17 08:15:00 CST 2014)
Description: Results of 2013 health concern poll.
6. Foundation Awards $1.2 Million in Support of Canine Health Research
(Web Page; Mon Dec 06 13:30:00 CST 2010)
Description: The AKC Canine Health Foundation is pleased to announce the approval of 17 new grants to support research into canine health concerns in the amount of more than $1.2 million.
Help Future Generations of Dogs
Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.
