Current Grant No. 02157-MOU: Genomics of Deafness in the Dalmatian Stem Cells: Effects of Donor Characteristics and ex vivo Expansion on Cell Pluripotency

Researcher: Dr. Claire M Wade, PhD; University of Sydney
Program Area: Neurology
Sponsor(s): .
Project Dates: 1/1/2015 to 12/31/2016
Grant Amount: $120,960.00
DCAF Funding: $120,960.00.

UPDATE DECEMBER 2018

Update Final Report PDF from researchers

UPDATE FINAL ABSTRACT

Update Final Abstract PDF

UPDATE JUNE 2018

Update Report PDF from researchers

Abstract: Congenital deafness is a health issue that has higher prevalence in certain breeds, including the Dalmatian. Other studies in this breed have found the trait to be inherited in a complex, rather than simple Mendelian manner. The aim of this project is to identify mutations underlying the trait of congenital deafness in the Dalmatian breed and to work towards a genetic testing solution for the Dalmatian breeding community. To do this, we will employ the latest genomic technologies and computational analyses. We have on hand a large number of suitable dog samples from animals that have been tested for hearing status using well validated technology. Work has been underway on this project for some time and has already identified target regions for further analysis.
Grant Objectives:

To complete our analysis to better understand the genomics of deafness and to provide a genetic testing solution to Dalmatian breeders.

1. That we can identify mutations underlying the risk signals identified by previous analysis of genotyped samples
2. That we can validate already identified loci in a wider cohort of samples and detect loci that confer greater relative-risk of disease
3. That we can ascertain gene frequencies for risk loci within the Dalmatian breed
4. That we can provide genetic tests for one or more risk loci

Report to Grant Sponsor from Investigator:
We have continued to collect samples for breed risk analysis via our neurology clinic run by Dr Georgina Child and have successfully acquired a high quality DNA sample from a bilaterally deaf dog along with a number of samples of deaf, unilateral and hearing pups. We are continuing to conduct assays on promising mutations in the vicinities of our identified regions.
From the six loci under investigation we are yet to resolve a definitive risk locus but there is growing statistical support for three of the tested loci. We are working to identify and test mutations in the regions of interest. The regions under investigation are quite large and there  are many Dalmatian specific mutations present. This makes it difficult to assess which are characteristic of the breed and which are related to disease. We are slowly working through each locus but it is a time consuming task that has been hampered by poor sequencing quality over some interesting candidate genes.