Molecular mapping and characterization of the genetic modifier associated with Collie Eye Anomaly (CEA) and Colobomas
Study Start Date: 05/01/2020
Study End Date: 07/01/2023
Primary Investigator:
Gustavo D. Aguirre
University of Pennsylvania
Coinvestigators:
Leonardo Murgiano
University of Pennsylvania
Molecular mapping and characterization of the genetic modifier associated with Collie Eye Anomaly (CEA) and Colobomas
DNA from collies with Collie Eye Anomaly with or without coloboma will be used. Genome-wide screens with high-density SNPchip technology will identify a coloboma candidate genomic region. Whole Genome Sequencing (WGS) will be used to find the genetic modifier associated with CEA in Collies, validated and DNA test developed.
Study Design:
Prospective genome analysis
Sample Size:
Open
Inclusion Criteria:
- Collies found to have a coloboma by a veterinary ophthalmologist
Exclusion Criteria:
- Dogs of other breeds
- Collies without colobomas
Study Controls:
None.
Samples:
EDTA 3-5 ml blood collection. The blood and paperwork should be sent via UPS or FedEx - next day only.
Study URL:
https://www.colliehealth.org/research-samples-needed/
Files for Download:
Submission Form
Costs/Reimbursements
Any sample collection fees and shipping paid for by study. Contact researcher and/or Collie Health Foundation.
Contact Info and Sample Shipping Info:
Leonardo Murgiano c/o Lydia Melnyk
School of Veterinary Medicine
University of Pennsylvania
3900 Delancey Street
Ryan #2050
Philadelphia PA 19104-6010
Email: lmelnyk@vet.upenn.edu
Phone: 215-898-9426
PI Contact Info:
School of Veterinary Medicine
University of Pennsylvania
3900 Delancey Street
Ryan #2050
Philadelphia PA 19104-6010
Full Disclosure information:
The study is funded by a grant from Collie Health Foundation.
The investigator does not have a conflict of interest.
The study will not be published if results are negative
The authors will acknowledge VIN if the study is published
Date published: 07/19/2022