Research Samples NEEDED!

Molecular mapping and characterization of the genetic modifier associated with Collie Eye Anomaly (CEA) – a request

The aim of our research is to use genetic mapping (mainly GWAS) with high-density SNP-chip technology to identify a coloboma candidate genomic region. Such study pinpoints higher frequency of certain SNPs in cases vs. controls, associating these variations with the disease. GWAS can be implemented on a wide population of dogs with reasonable computation time, and regardless of the family information of the samples.

Our plan for the investigation of CEA gene modifiers in Collie is based on gathering a number of informative Collie samples with a well characterized phenotype and have them genetically tested for the primary genetic variant. These criteria are essential for building a reliable dataset. Thus, in a given population of Collie samples, we can classify dogs as belonging to one of these three categories: population of Collie samples, we can classify dogs as belonging to one of these three categories:

“A”- homozygous for the tested variant but only having choroidal hypoplasia;
“B”- same, but being affected by choroidal hypoplasia AND coloboma;
“C”- normal eyes and genetically normal for the tested genetic variant. For the sake of our research, only dogs from populations A and B are relevant. Out of all the genotyped collies in our dataset, 25 are population A and 20 are population B.

GWAS Population A vs Population B has been carried out using several different statistical models. Two candidate loci have been found associated with the severe condition, but currently, the association found is not very strong.
We think that we need to increase considerably the number of Collies participating to this study. This would allow us to increase our statistical power and also to suppress any confounding factor associated with specific populations of collie, close relatedness and so on.

We have determined that at least 20 new contributors per type would be ideal. However, we do think that an additional 10 dogs for each population could already improve our analysis results. Reaching a sufficient number of dogs for significance is our absolute priority. We count on the contribution of the breeders/owners for such advancement.
Once the mapping is complete and the statistics solid, Whole Genome Sequencing (WGS) will be then used to find the genetic modifier associated with CEA in Collies, which will be validated, and help in the development of a specific DNA test for diagnosis.

We wish to thank the Collie Health Foundation, especially Ms. Robette Johns, for their continuous help, interest and support, and the breeders for their precious contribution. We are looking forward the next developments of our research.

But please, keep those samples coming. While we state that 20 for each category would be needed, and we would settle for 10 for each initially, image the power if we could get 50 for each category! That would make the project progress much more rapidly. Your help is greatly appreciated.

>> University of PA Eye Submission Form <<

Additional gene(s) underlying development of DMS in collies.

Description of Study Topic: Dr. Leigh Anne Clark’s genetics lab at Clemson University is looking for additional gene(s) underlying development of DMS in collies.

Method and Test Study Information: Blood samples are requested from collies that have been diagnosed by skin punch biopsy. Dogs that have not been diagnosed by skin punch biopsy but are strongly suspected of having DMS may also be eligible. Participants will be provided with DMS risk assessment results. ** Needed Seniors 7+ with DMS results AA/bb**

Sarah Murphy
(864) 656-4696
Dept. of Genetics & Biochemistry
Clemson University
154 Poole Agricultural Center
130 McGinty Ct.
Clemson SC 29634-0318 USA

Identification of Genetic Risk in Collies with Epilepsy

Study Information:
Identification of Genetic Risk Factors for Epilepsy in Collies

Description of Study Topic: Dr. Leigh Anne Clark proposes to conduct a genome-wide association study (GWAS) to determine if regions of the genome are associated with epilepsy in collies. As epilepsy is a genetically complex disorder, we propose a large study comprised of 50 epileptic collies and 100
healthy control collies. In Objective 2, she will generate whole genome resequencing data from epileptic and healthy collies to identify specific genetic variants that may confer risk to, or protection from, epilepsy. The long-term goal of this research is to develop a genetic test to enable selective breeding practices that will reduce the incidence of epilepsy among collies while preserving genetic variation.

Method and Test Study Information: Blood sample. Contact Sydney Abrahams, PhD, for details. If your dog has been banked with CHIC please let Sydney Abrahams know.


Lizzie Greif
Dept. of Genetics & Biochemistry
Clemson University
154 Poole Agricultural Center
130 McGinty Ct.
Clemson SC 29634-0318 USA

Transcriptome Profiling of Canine Familial Dermatomyositis (DMS) Skin Lesions and Treatment

Breed(s): Shetland Sheepdog, Collie
Sample Type: Clinical Study, Tissue Sample
Study Location: University of Georgia
AKC/CHF-funded Grant: 02921-MOU

Cutaneous dermatomyositis (DMS) is a chronic immune-mediated disease that exhibits severe inflammatory lesions leading to skin scarring with disfiguration. The inflammatory skin process in human DMS is characterized by an upregulated interferon signature and activation of Janus kinase (JAK) pathway; the JAK inhibitors represent a novel treatment modality for human cutaneous DMS. Presently, little is known about the pathogenesis of canine familial DMS-associated skin lesions in Collies and Shetland Sheepdogs and the treatment is rarely successful. Oclacitinib is a safe and well-tolerated JAK inhibitor that has been used for the control or treatment of allergic dermatitis in dogs; however, the therapeutic effect of oclacitinib on canine familial DMS has not been investigated.

The primary objective of this study is to evaluate the molecular signature of canine familial DMS using RNA sequencing. We will perform transcriptomic analyses of lesional skin biopsy specimens from 20 dogs (Collies, Shetland Sheepdogs) with familial DMS; biopsy specimens from 10 healthy dogs will serve as a control. Alignment of RNA-seq reads and detailed comparative analysis will be identified using software services. Furthermore, we will evaluate the effect of oclacitinib, a veterinary JAK inhibitor, on the modulation of the cutaneous DMS clinical signs in dogs in a 12-week open-label study. This is the first evaluation of a targeted immune JAK antagonist in dogs with familial DMS. The robust transcriptome analysis using RNA-seq will define novel pathogenic (innate, adaptive and inflammatory) pathways canine DMS disease drivers, with potential for the development of new targeted therapeutics.

Participation Requirements:

Client-owned Collies and Shetland Sheepdogs of any age, body weight and sex, with active cutaneous DMS diagnosed based on currently accepted standards (i.e. compatible history, clinical signs and microscopic demonstration of cell-poor interface dermatitis with vasculopathy, follicular atrophy and fibrosis on previous skin biopsy) will be enrolled into the study. To limit the influence of medications on active DMS skin lesions, withdrawal times for all dogs from previous medications will be recommended to the client.

Owner’s Responsibilities:

Once the patient is accepted into the study, the primary investigator will be in contact with the clients to organize a one-time skin biopsy collection procedure at a veterinary dermatologist clinic or a primary veterinarian clinic. The primary investigator is responsible for the shipments of all materials. Samples can be sent from other clinics/owners.

If the clients pursue treatment with oclacitinib, the primary investigator will contact the clients directly with clinical scoring materials and the client will be responsible to bring the patient for a clinical visit rechecks to a veterinary dermatologist or a primary veterinarian.

If you would like to learn more or participate in this study, please contact Pat Jung at

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