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Category: Genetic

Molecular mapping and characterization of the genetic modifier associated with Collie Eye Anomaly (CEA) and Colobomas
July 19, 2022 (published)

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The study will not be published if results are negative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


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