Genetics

Photo: Flyer for Ocular Squamous Cell Carcinoma in Horses

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Below, please find links to all of the clinical trials that are investigating the genetics of a variety of diseases or breeds. The studies include a multitude of information, including (but not limited to) the study’s purpose, benefits for participating, and financial incentive information. If you have any questions, please contact the individual outlined at the end of each trial summary.

Please visit the Genetics service webpage at the Veterinary Medical Teaching Hospital (VMTH) if you would like to learn more about the amazing things that our veterinarians can do for you and your animal.

Horses & Ponies

Leopard Complex Spotting in Appaloosa Horses

Title: Leopard complex spotting in horses as a model for human vitiligo

Purpose: Leopard Complex spotting is a group of white spotting patterns that occurs in several breeds of horses and has been associated with several ocular conditions, which have similarities to a human disorder known as vitiligo. Two genes have been previously implicated in the loss of pigment in Appaloosas. The purpose of this study is to 1) investigate the morphology of the pigment producing cells (melanocytes) and determine if any ultrastructural differences exist among varying appaloosa genotypes, and 2) examine previously associated genes to determine the biological mechanism of pigment loss.

Contact: Dr. Rebecca Bellone (rbellone@ucdavis.edu or 530-752-9299)

Participation Requirements: 

  • Female Appaloosas (under 5 years old) that are dark bay/brown with either no patterning (solid, non-characteristic), minimal patterning or large patterning (see Printable Flyer for photo examples) and have known pedigrees
  • Horses must be located within a 2-hour driving distance from the UC Davis Veterinary Medical Teaching Hospital.

Initial Evaluation for Participation: None.

Procedures: If you agree to let your horse participate in this study, the following will happen:

  • Perform a skin biopsy procedure by a licensed veterinarian at your farm to culture melanocytes (pigment producing cells)
  • Collect blood and hair samples for DNA isolation to confirm coat color genotypes
  • Photography of the horse to document coat color phenotype
  • Discussion of the horse’s medical history
  • Follow up phone calls or emails may be necessary if any questions about the horse’s medical history arise after the examination.

Benefits: All costs associated with the study will be paid by the sponsor.

Results of this work will enable a better understanding of the biology behind melanocyte loss and associated disorders in both horses and humans. Information gained may help breeders to make informed mating decisions, and utilized by veterinarians to predict risk of developing disease for earlier diagnosis and treatment.

Owner Responsibilities: We expect that participation in this clinical trial will last for about 30 minutes but may take as long as one hour.  If you allow your horse to participate in this study, you will be responsible for cooperating with the veterinarian to collect samples, providing the requested pedigree documents and medical records, and covering any costs associated with injuries while participating in this trial.  

Printable Flyer (PDF)

Equine Recurrent Uveitis in Appaloosa Horses

Title: Genomic investigation of Equine Recurrent Uveitis in Appaloosa horses

Purpose: Equine recurrent uveitis (ERU) is the leading cause of blindness in horses, marked by repeated episodes of inflammation of the uveal tract of the eye. Appaloosa horses, known best for their white coat spotting patterns (termed leopard complex or LP), are eight times more likely than any other breed to develop this disease and four times more likely to go blind, suggesting genetics plays a major contributing role. However, little is known about the specific genetic factors involved. The objective of this study is to determine the genetic factors contributing to ERU in Appaloosa horses.

Contact: Drs. Mary Lassaline (lasutter@ucdavis.edu or 530-752-0290) or Rebecca Bellone (rbellone@ucdavis.edu or 530-752-9299) 

Participation Requirements: Appaloosas with known pedigrees

Initial Evaluation for Participation: None.

Procedures: 

  • Examination of the horse’s eyes by a veterinary ophthalmologist
  • Photography of the horse to document coat color and any abnormalities found in the eyes
  • Collection of mane hair and blood samples will be utilized to examine the horses DNA
  • Discussion of the horse’s medical history
  • Follow up phone calls or emails may be necessary if any questions about the horse’s medical history arise after the examination.
  • If any horse objects to having their eyes examined, to having mane hair pulled, or blood drawn, these procedures would not be performed.

Benefits: The results of this work may help to lower the incidence of this ocular disease in Appaloosas and other breeds, help breeders to make informed mating decisions, and be utilized by veterinarians to predict risk of developing disease for earlier diagnosis and treatment.

Owner Responsibilities: We expect that participation in this clinical trial will last for about 15 minutes but may take as long as one hour. If you allow your horse to participate in this study, you will be responsible for covering any injury sustained while participating and further diagnostics or therapy associated with the diagnosis of ERU if a presumptive diagnosis of ERU is made for your horse.

Printable Flyer (PDF)

Bilateral Corneal Stromal Loss in Friesian Horses

Title: Genetic investigation of bilateral corneal stromal loss in Friesian horses

Purpose: Bilateral corneal stromal loss (BCSL) is a potentially progressive ocular disease that can be associated with pain, vision loss and even loss of the eye. The objective of this study is to determine the role genetics plays in BCSL in Friesian horses. This study is designed to determine the incidence of BCSL in the breed, to determine the mode of inheritance if a single gene is involved, and identify candidate genes for further investigation.

Contact: Drs. Mary Lassaline (lasutter@ucdavis.edu or 530-752-0290) or Rebecca Bellone (rbellone@ucdavis.edu or 530-752-9299) 

Participation Requirements: Friesian horses with and without a diagnosis of bilateral corneal stromal loss (BCSL)

Initial Evaluation for Participation: Any Friesian horse is invited to participate. Please contact Drs. Mary Lassaline (lasutter@ucdavis.edu or 530-752-0290) or Rebecca Bellone (rbellone@ucdavis.edu or 530-752-9299) for more information.

Procedures: 

  • Participation in this study would involve up to one hour of time per horse included in the study. This time may involve examination of the horse’s eyes by a veterinary ophthalmologist, photography of the horse to document coat color and any abnormalities found in the eyes, collection of hair samples from the horse’s mane, and discussion of the horse’s medical history.
  • For some horses, hair samples may be collected from the mane to examine DNA for genes that may be involved in the development of BCSL.
  • If any horse objects to having their eyes examined, or to having mane hair pulled, these procedures would not be performed.

Benefits: All costs associated with the study will be paid by the sponsor/department. However, if a presumptive diagnosis of BCSL is made for your horse, any further diagnostics or therapy associated with the diagnosis of BCSL will be your responsibility. Copies of any biopsy reports from horses that have been affected with BCSL may be requested.

We cannot promise any benefits to your horse or other animals from your taking part in this clinical trial; however, possible benefits include lowering the incidence of this ocular disease in Friesians and other affected breeds, helping breeders to make informed mating decisions, and better prediction of the risk of developing disease for earlier diagnosis and treatment.

Owner Responsibilities: If you allow your horse to participate in this study, you will not be responsible for anything other than allowing us access to examine your horse and pull hairs from the mane.

Printable Flyer (PDF)

Ventricular Septal Defects in Arabian Horses

Title: Equine Ventricular Septal Defects

Purpose of Study: Ventricular Septal Defects (VSDs) are the most common congenital heart defects in horses. They allow blood to shunt inappropriately from the left ventricle to the right ventricle via an opening in the ventricular septum. This blood recirculates through the lungs and left chambers, resulting in enlargement of these structures. Arabian horses are overrepresented in horses presenting for VSDs, and we are investigating the possibility of a genetic predisposition for this defect.

Contact: Eric Ontiveros, Stern Laboratory Coordinator: (esontiveros@ucdavis.edu or 530-752-4892)

Participation Requirements: Arabian horses or Arabian crosses that have a right-sided systolic heart murmur, or a veterinary diagnosis of VSD. Horses must tolerate handling and stand for the echocardiogram.

Initial Evaluation for Participation: None.

Procedures: Collection and submission of a blood sample (3ml in an EDTA purple top) for DNA extraction by the cardiac genetics laboratory

Benefits: Results from this study will determine if a genetic factor plays a role in the development of Ventricular Septal Defects in Arabian horses. This finding would have great significance regarding screening predisposed horses and hopefully guiding breeding management to avoid continuation of this defect in the Arabian horse.

Owner Responsibilities:

  • Submission of a blood sample either by you or the referring veterinarian
  • If your Arabian was diagnosed with a heart murmur but you are unsure whether it qualifies for the study, please contact us. In some cases, we may be able to review your horse's medical records or even fund a cardiac examination for your horse.

Printable Flyer (PDF)

Ocular Squamous Cell Carcinoma in Haflinger, Beligan, Percheron, Appaloosa, and Arabian Horses

Title: Genetic Investigation of Ocular Squamous Cell Carcinoma in Haflinger, Belgian, Percheron, Appaloosa, and Arabian Horses

Purpose: Squamous cell carcinoma (SCC) is one of the most common forms of cancer to affect the eye in horses, frequently occurring at the limbus, where the clear cornea meets the white of the eye, or on the nictitating membrane, also known as the third eyelid.  This type of eye cancer affects Haflingers, Belgians, Percherons, Appaloosas, and Arabians among others and the objective of this study is to determine the role genetics plays in ocular squamous cell carcinoma in these breeds.  This study is designed to determine the incidence of SCC in the listed breeds, to determine the modes of inheritance and identify DNA variants that put horses at risk for this cancer. 

Contact: Drs. Mary Lassaline (lasutter@ucdavis.edu or 530-752-0290), Rebecca Bellone (rbellone@ucdavis.edu or 530-752-9299), or Kelly Knickelbein (kknickelbein@ucdavis.edu or 530-718-8359)

Participation Requirements: Haflinger, Belgian, Percheron, Appaloosa, and Arabian Horses with confirmed ocular SCC (confirmed by pathology), or horses that have not been diagnosed with ocular SCC that are at least 13 years old.  Horses that are suspicious for ocular SCC are invited to participate, but confirmation would be required prior to inclusion in the study.

Initial Evaluation for Participation: Any horse with confirmed ocular SCC does not need to be evaluated in person to participate.  Participation for horses with confirmed ocular SCC involves providing (1) a copy of a pathology report confirming ocular SCC, (2) the horse’s registered name for pedigree analysis, and (3) a blood or hair sample.  Horses that have not had ocular SCC and are at least 13 years old will need to be examined by a boarded veterinary ophthalmologist to confirm that they do not have ocular SCC.  This may be done at UC-Davis VMTH or elsewhere.  

Procedures:

  • Participation in this clinical trial, which could last between 15 minutes to one hour, will include discussion of the horse’s medical history, documentation on known pedigree information, examination of the horse’s eyes by a veterinary ophthalmologist, photography of the horse to document coat color and any abnormalities found in the eyes, and collection of hair samples from the horse’s mane. 
    • Examination of a horse’s eyes is similar to examination of a person’s eyes, with lights and magnifying lenses shone into the eyes to see if they are normal, or if any signs suspicious for ocular SCC are present. 
    • For some horses, a blood sample may be collected from the jugular vein, and hair samples may be collected from the mane. This is similar to pulling the mane for show but only pulling a very small sample of about 50 hairs. This blood and hair would be used to isolate DNA for genetic studies to help understand which genes may be involved in the development of ocular SCC. 
  • Follow up phone calls or emails may be necessary if any questions about the horse’s medical history arise after the examination. 
  • If any horse objects to having their eyes examined or to having blood taken or mane hair pulled, these procedures would not be performed.

Benefits: If you are selected to participate in the study, the study will cover the costs associated with eye examination, blood collection, and mane pulling; however, if a presumptive diagnosis of SCC is made for your horse, any further diagnostics or therapy associated with the diagnosis of SCC will be your responsibility.

We cannot promise any benefits to your horse or other animals from your taking part in this clinical trial; however, possible benefits include lowering the incidence of this common eye cancer in Haflinger, Belgian, Percheron, Appaloosa, and Arabian Horses, helping breeders to make informed mating decisions, and better prediction of the risk of developing disease for earlier diagnosis and treatment.  

Owner Responsibilities: Financially, you will be responsible for covering any costs associated with injuries sustained while participating in this trial and any costs associated with follow up of your animal at VMTH for assessment.

Printable Flyer (PDF)

News Article
NOW AVAILABLE! Ocular Squamous Cell Carcinoma Genetic Test

Dogs

NEW! Subvalvular Aortic Stenosis in Bullmastiffs

Title: Genetic Investigation of Subvalvular Aortic Stenosis in Bullmastiffs

Purpose: Subvalvular aortic stenosis (SAS) is the second most common heart defect diagnosed in dogs, and the Bullmastiff breed is over-represented in incidence of SAS. Moderate and severely affected cases are at risk for developing severe cardiac complications, and have an average lifespan of 19 months. Furthermore, there is no surgical treatment available that results in an increased life expectancy for affected cases. The aim of this study is to identify genes/variants associated with SAS in Bullmastiffs that can be used to develop a genetic test.

Contact:

Participation Requirements:

  • Bullmastiffs that have been diagnosed with SAS; or
  • Parents and/or littermates of dogs with SAS

Initial Evaluation for Participation: None.

Procedures: 

  • If you decide to enroll your dog in this clinical trial, an echocardiogram performed by a board certified cardiologist is required.
  • Collection and submission of 2-3ml of whole blood by the owner or a veterinarian

Benefits: Results from this study can be utilized to produce an SAS genetic test for Bullmastiff. A genetic test can be used to screen predispose Bullmastiffs and guide breeding practices to reduce disease prevalence in this breed.

Owner Responsibilities: Submission of the following items:

  • 2-3ml of whole blood
  • A copy of the 3-generation pedigree (if available)
  • A copy of the veterinary report
  • Filled out enrollment form (contact Dr. Stern or Eric Ontiveros for this form)
Atrial Fibrillation in Irish Wolfhounds

Title: Genetic Determinants of Atrial Fibrillation in Irish Wolfhounds

Purpose: Atrial fibrillation (AF) is an arrhythmia in which the heart beats fast with no identifiable pattern of atrial activation. Although AF affects a wide variety of animals, it has a particularly high prevalence in Irish Wolfhounds suggesting a genetic predisposition. We are conducting a genetic investigation into the cause of AF in Irish Wolfhounds in order to improve our understanding of this disease and thus inform prevention and treatment practices.

Contact:

Participation Requirements:

  • Irish Wolfhounds that are older than 8 years old with or without atrial fibrillation.
  • If your Irish Wolfhound has already had a completed cardiology evaluation (exam, echocardiogram and EKG), you may be able to participate by simple submission of a blood sample.

Initial Evaluation for Participation: None.

Procedures: If you agree to let your dog participate in this study, the following will happen:

  • Complete cardiology evaluation, including a focused cardiovascular physical examination, an electrocardiogram (non-invasive measure of heart rhythm), and an echocardiogram (heart ultrasound) without the use of sedatives to determine if atrial fibrillation and/or other cardiac diseases are present.
  • Blood collection for DNA extraction, which will be used for the genetic analysis of atrial fibrillation

Benefits: All costs associated with the study will be paid for by the study. Adverse effects are not expected from a cardiac screening. If adverse events occur directly as a result of the study and your dog requires further care (e.g. hospitalization, monitoring, treatment/medications etc.) the study will cover up to $3,000 of your dog’s care.

Identification of genes will allow us to better understand and guide medical care for your dog and future dogs affected with atrial fibrillation.

Owner Responsibilities: If you allow your dog to participate in this study, you will be responsible for coordinating a scheduled visit with the laboratory and bringing your dog to the scheduled appointment. Participants are responsible for paying any costs incurred that are not related to the study. The study appointment and procedures are anticipated to take approximately 2 hours and will consist of a single visit.

Printable Flyer (PDF)

Primary Glaucoma in American Cocker Spaniels

Title: Proteomics and genomics of primary glaucoma in the dog

Purpose of Study: Glaucoma is a disease that is a common cause of blindness worldwide in human and canine patients. We are interested in characterizing this disease better with hopes of identifying protein biomarkers or the genetic components of this disease.

Contact: Monica Motta at mjmotta@ucdavis.edu or 530-752-6967

Participation Requirements: 

  • Healthy American Cocker Spaniels that are at least 10 years old with normal eyes
  • American Cocker Spaniels diagnosed with primary glaucoma

Initial Evaluation for Participation: None.

Procedures:

  • Limited Diagnostic Testing
    • A full ophthalmic examination
    • An eye pressure test prior to and after dilation
    • Dilation of the eyes to examine the back of the eyes
    • Corneal thickness measurements via ultrasonic pachymetry
    • Fluorescein staining to assess for corneal ulcers
    • Digital photographs of the eye
    • Gonioscopy to assess the drainage angles in the eye
    • Non-invasive A-Scan/B-Scan to determine the length of the ocular globe
    • Blood collection for genetic analysis
  • Advanced Diagnostic Imaging
    • If required, advanced ocular imaging, including digital slit lamp photography, spectral domain optical coherence tomography (non-contact imaging), ultrasound biomicroscopy and fundus photography to image the retina
    • Sedation may be required for some of the advanced diagnostic testing procedures.

Benefits: The study will cover cost associated with the ophthalmic examination, ocular diagnostic testing, sedation, advanced ophthalmic imaging and blood collection. In addition, the study will cover costs of any complications from the ophthalmic examination, diagnostic testing, gonioscopy, sedation, or blood sampling will be covered by the study up to $200.

Results from this study may lead to our improved ability to better predict the onset and progression of this disease. If a gene or effect through diagnostics that causes this disease is found, then we may be able to develop a genetic test or future diagnostic tests to know identify which dogs have or do not have this disease.

Owner Responsibilities: Although we expect to gain the majority of information from your dog in a single visit, we may want to do additional tests if your dog has a glaucomatous attack. We anticipate a maximum of 4 visits over a 2-year period for your dog. You will be responsible for filling out a questionnaire and survey regarding your dog’s history, monitoring the well-being of your dog at home and report any changes or side effects to us, and withhold food from your dog the morning prior to the appointment so that your dog can be sedated for advanced ocular examination. You will also be responsible for covering any costs (beyond $200) related to complications, diagnostic testing, gonioscopy, sedation or blood sampling.

Printable Flyer (PDF)

Old Age (Longevity) in Large Breeds

Title: Venous Blood Sample Collection for DNA Extraction and Analysis in Aged Large Breed Dogs

Purpose: Many current studies are aimed at trying to identify genes associated with diseases in dogs, but we are looking to see if there might exist ‘protective genes’ that could help protect against these same life-limiting diseases in the dog.

Contact: Dr. Rob Rebhun (rbrebhun@ucdavis.edu

Participation Requirements: Large breeds that are over 50 lbs and 12 years old (or older) with particular interest in Golden Retrievers, Labrador Retrievers, Boxers, German Shepherds and any giant breeds

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. For more information about submitting samples, please contact Drs. Bannasch or Rebhun (details above).

Benefits: Identification of such genes may help us understand why some dogs or dog breeds live longer, and hopefully lead to lengthening the lifespans for our faithful companions.

Referring Veterinarian Responsibilities: To collect and submit a blood sample and medical records.

Printable Flyer (PDF) - Golden Retrievers

Fungal Infections (Aspergillus spp) in German Shepherds, Rhodesian Ridgebacks, and Hungarian Vizslas

Title: Genetic analysis of the susceptibility to systemic Aspergillus infections in dogs

Purpose: Systemic fungal infections such as aspergillosis are rare in animals with a competent immune system; however, certain dog breeds (namely the German shepherd, Rhodesian ridgeback and Hungarian vizsla) are reported to have a higher risk of this uncommon disease. A genetic etiology is suspected to cause this over-representation. We propose to use a technique called genome-wide association analysis to evaluate the differences in the genetic material of affected dogs (dogs infected with Aspergillus spp.).

Contact: Dr. Jonathan Dear, DVM, DACVIM at jddear@ucdavis.edu

Participation Requirements:

  • German Shepherds with systemic Aspergillus spp. infections
  • Rhodesian Ridgebacks with systemic Aspergillus spp. infections
  • Hungarian Vizslas with systemic Aspergillus spp. infections

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. For more information about submitting samples, please contact Dr. Jonathan Dear (details above).

Benefits: Results from this study will hopefully lead to the development of DNA tests that would identify dogs at risk for developing systemic aspergillosis. These tests would help simplify the diagnosis of the disease by identifying at risk individuals and allow breeders to avoid producing affected dogs. Furthermore, if the genetic traits responsible for this disease in dogs are shared with human patients, precision medicine can be used to help develop targeted therapies to treat this life-threatening disease.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample and medical records.

Printable Flyers

  • German Shepherds (PDF)
  • Vizslas (PDF)
  • Rhodesian Ridgebacks (PDF)
Addison's Disease in Nova Scotia Duck Tolling Retrievers (NSDTRs)

Title: Canine Addison’s Disease

Purpose: Addison’s disease in the Nova Scotia Duck Tolling Retriever (NSDTR) has a complicated presentation, as the disease manifests as early as 7 weeks of age and as old as 11 years, and in some cases, can be observed in conjunction with other diseases (e.g., hypothyroidism, immune-mediated polyarthritis, and various eye problems). Sequencing of the canine genome allowed scientists to create powerful new tools (e.g., SNP arrays) to investigate inherited diseases. Previous studies found a significantly associated chromosomal region in dogs affected with Addison’s disease under 1 year of age. We are currently investigating a candidate causal mutation for the juvenile onset form of the disease within that same region.

Contact: For more information, please contact Dr. Danika Bannasch dlbannasch@ucdavis.edu) or Emily Brown (eabrown@ucdavis.edu).

Participation Requirements:

  • Nova Scotia Duck Tolling Retrievers (adults and puppies) diagnosed with Addison’s disease
  • Puppies of other breeds diagnosed with Addison’s disease

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. Please contact Dr. Danika Bannasch (dlbannasch@ucdavis.edu) or Emily Brown (eabrown@ucdavis.edu) for more information about submitting samples.

Benefits: There is no direct benefit of this study for you or your dog at this time; however, gaining a better understanding of the genetic etiology of juvenile and adult onset Addison’s Disease may lead to the development of a DNA based test that will allow breeders to make informed breeding decisions.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample.

Addison's Disease in Multiple Breeds

Title: Canine Genetic Disease Project - Addison's Disease

Purpose: Addison’s Disease or Hypoadrenocorticism is a deficiency in the secretion of both glucocorticoids and mineralcorticoids from the adrenal cortex. The cause is unknown; however, there appears to be an immune mediated destruction of the adrenal gland in most cases. Symptoms include inappetance, vomiting, lethargy and weakness. An ACTH stimulation test to evaluate the ability of the adrenal gland to secrete cortisol can be used for diagnosis. Affected dogs show low cortisol concentrations, and no increase in cortisol following the ACTH test. Treatment for this disease includes fluid therapy, replacement of glucocorticoids and mineralcorticoids, and hormone therapy.

The overall purpose of this study is three-fold:

  • To evaluate the mode of inheritance of canine diseases;
  • To identify the genes responsible for disease expression; and,
  • To join the tools of statistics with the promise of molecular genetics.

Contact: For more information, please contact Dr. Anita Oberbauer amoberbauer@ucdavis.edu), Dr. T.R. Famula (trfamula@ucdavis.edu), or Janelle Belanger (jmbelanger@ucdavis.edu).

Participation Requirements:

  • Bearded Collie, Great Dane, Leonberger, Portuguese Water Dog, Standard Poodle & West Highland White Terrier of all ages diagnosed with Addison’s Disease
  • Healthy dogs of the above-mentioned breeds (> 7 years old)

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. Instructions for sample submission, questionnaire regarding your dog’s health and owner informed consent document can be found here. Frequently asked questions and answers can be found here.

Benefits: There is no guarantee that your dog will benefit from its participation in this study. However, such participation may provide veterinarians and researchers with additional information and a better understanding of canine diseases, which could ultimately influence the course of treatment or genetic testing to help your dog and other animals in the future.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample.

Publication

Cleft Lip and/or Palate in Any Breed

Title: Understanding the genetic basis of cleft lip and/or cleft palate in dogs

Purpose of Study: Cleft lip and/or cleft palate are developmental defects that result in the failure of the roof of the mouth to properly form. This results in an inability to properly nurse and often leads to euthanasia. The aim of this study is to identify the genes responsible for these birth defects and prevent them in future litters.

Contact: Katie Lucot (kllucot@ucdavis.edu)

Participation Requirements: Dogs must have a cleft lip and/ or cleft palate.

Initial Evaluation for Participation: None.

Procedures: Whole blood samples from dogs with cleft lip and/or cleft palate, parents, and littermates will be collected. The cleft will also be photographed.

Benefits: Understanding the genetic basis of such a defect will allow for the prevention of it in future litters. There are no direct benefits to participating in this study.

Owner Responsibilities: Owners need only to submit samples along with a signed consent form.

Printable Flyer (PDF)

Corneal Endothelial Dystrophy in Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers

Title: Phenotype and Genotype of Corneal Endothelial Dystrophy in Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers

Purpose of Study: Corneal endothelial dystrophy (CED) is a devastating disease in dogs that can result in blindness and severe ocular pain from secondary complications. The endothelial cells comprise the most inner aspect of the cornea and are responsible for maintaining a proper fluid balance. This function is critical to ensuring that the cornea remains transparent for vision. In many animals, including dogs, corneal endothelial cells have a very limited capacity to regenerate following injury. In canine patients with CED, the endothelial cells degenerate until the cells still remaining can no longer function properly. This results in swelling of the cornea (edema) which results in decreased vision as well as formation of small fluid-filled blisters (bullae) on the cornea which can rupture and cause ocular discomfort. There are palliative treatments such as hypertonic saline to decrease corneal bullae formation but the only definitive treatment for this condition is a corneal transplant (penetrating keratoplasty). Unfortunately, corneal transplants are rarely performed in canine patients with CED due to the expense of the surgery and follow-up care, relatively high risk of complications, and lack of appropriate donor tissue.

Several dog breeds, including Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers, are seen more commonly for CED in comparison to other breeds. This observation suggests that this disease may have a genetic component. A similar condition called Fuch’s endothelial corneal dystrophy (FECD) exists in humans and several genes associated with FECD have been identified. We propose to identify the region of the dog genome associated with CED in Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers. In order to do this, we will perform thorough eye examinations and use non-invasive advanced imaging techniques to examine Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers with CED and age-matched control dogs. We will collect blood from these dogs to obtain DNA. The entire canine genome will be evaluated for an association with CED. This work will be used to identify the gene(s) responsible for this condition in Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers. The ultimate goal will be to develop a genetic test for CED in Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers and possibly other breeds, such as Chihuahuas and Dachshunds, with an increased risk of CED.

Contact: Dr. Sara Thomasy (smthomasy@ucdavis.edu or (530) 752-1770)

Participation Requirements:

  • Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers with Corneal Endothelial Dystrophy
  • Healthy Boston Terriers, German Shorthaired Pointers and German Wirehaired Pointers (>7 years of age)

Initial Evaluation for Participation: Dogs must receive a diagnosis by a veterinary ophthalmologist for corneal endothelial dystrophy.

Procedures:

  • Blood collection for DNA analysis
  • Ophthalmic examination, including digital slit lamp biomicroscopy, Schirmer tear test followed by dilation and staining of the eye wtih fluroescein and digital photography
  • Noninvasive advanced corneal imaging with ultrasonic pachymetry, confocal biomicroscopy and spectral domain-optical coherence tomography (all of which will require sedation)

Benefits: Benefits include an ophthalmic examination at no cost with thorough characterization of disease to aid in monitoring for progression.

Owner Responsibilities: No ophthalmic medications can be administered 48 h prior to examination. Food cannot be given in the morning in preparation for sedation.

Printable Flyer for Boston Terriers (PDF)
Printable Flyer for German Shorthaired Pointers (PDF)

Dry Eye Syndrome (Keratoconjunctivitis sicca) in West Highland White Terriers

Title: The Genetics of Keratoconjunctivitis Sicca in West Highland White Terriers

Purpose of Study: Keratoconjunctivitis sicca (KCS) or dry eye is a devastating disease that causes ocular pain and potentially blindness. It is seen more frequently in West Highland White Terriers in comparison to many other breeds. We are interested identifying the genetic components of this disease as well as characterizing this disease better with examination and testing of the tear film and ocular surface and in select patients using advanced imaging techniques.

Contact: Dr. Sara Thomasy (smthomasy@ucdavis.edu or (530) 752-1770)

Participation Requirements:

  • West Highland White Terriers with Dry Eye Syndrome (affected); or,
  • West Highland White Terriers >7 years of age with no ocular abnormalities (control)

Initial Evaluation for Participation: Affected patients must receive a diagnosis by a veterinary ophthalmologist for dry eye. Dogs without ocular disease (controls) require no prior initial examination.

Procedures:

  • Routine ophthalmic examination and tear film tests
  • Blood collection for DNA analysis
  • Tears will be collected from the conjunctival sac using a blunt-tip needle attached to a syringe from both eyes. Tear collection will be performed at a separate time from the initial ophthalmic examination and tests.
  • Conjunctival biopsy: Two (2) minutes after regional anesthesia is applied, a small (approximately 5 mm x 2 mm) piece of conjunctiva will be removed from inside the lower eyelid.
  • Select patients only:
    • Advanced imaging: Spectral domain optical coherence tomography (non-contact imaging) and confocal biomicroscopy (imaging in which a gel on the instrument contacts the cornea) will also be performed to carefully image the cornea along with digital slit lamp photography.
    • Sedation for advanced imaging: In order to keep dogs relaxed and comfortable but awake for the advanced imaging, your dog will be given a mild sedative. The sedation chosen for your pet will depend on your dog’s age and health status.

Benefits: There will be no cost to you for your participation in this study and your dog will receive a very thorough eye examination at no charge. If a corneal ulcer occurs at the time of evaluation, the cost of medications, recheck examinations, and procedures (e.g., cotton-tipped applicator or Diamond burr debridement, grid keratotomy) will be performed at no cost to you if they are performed at UC Davis. If a surgical procedure is required, you will receive $200 of compensation towards the procedure if it is performed at UC Davis. If your dog has KCS, you will be compensated for taking part in this study with 2 months worth of immunosuppressive medication (e.g., cyclosporine/tacrolimulus) ointment or drops. The study will also cover the costs of any complications from the sedation, blood sampling or imaging up to $200.

Results from this study will allow us to better predict the onset and progression of this disease. If a gene that causes this disease is found, then we may be able to develop a genetic test to know which dogs have or do not have this disease.

Owner Responsibilities: Although there is no cost to participate in the study, you will need to cover any costs due to complications from sedation, blood sampling, or examination (including corneal ulceration) beyond $200. Additionally, please do not administer any medications to treat your dog’s dry eye for one week prior to the appointment other than the lubricant provided to you. If your dog is participating in the advanced imaging, please do not feed your dog the morning of the appointment (water is fine), as the sedation administered can cause vomiting.

Printable Flyer (PDF)

Epilepsy in Multiple Breeds

Title: Canine Genetic Disease Project - Epilepsy

Purpose: Epilepsy is a neurological disorder that causes abnormal bursts of electrical activity in the brain (lasting from seconds to minutes). Seizures are characterized by jerking of the limbs, anxiety, salivation, vocalizing, and loss of bodily functions (urination/defecation). Epilepsy can be caused by metabolic disorders, infectious diseases, brain injury, toxins, or brain tumors. A genetic seizure condition in dogs can occur called idiopathic (of unknown cause) or inherited epilepsy. Since a dog with idiopathic epilepsy shows no recognizable abnormalities, it is assumed to be an inherited condition in most breeds and demonstrated to be heritable in some breeds. Treatment of seizures is usually two-fold which includes treatment of the underlying problem (infection, tumor, injury) and reducing or eliminating the seizure episodes with anticonvulsant medication.

The overall purpose of this study is three-fold:

  • To evaluate the mode of inheritance of canine diseases;
  • To identify the genes responsible for disease expression; and,
  • To join the tools of statistics with the promise of molecular genetics.

Contact: For more information, please contact Dr. Anita Oberbauer amoberbauer@ucdavis.edu), Dr. T.R. Famula (trfamula@ucdavis.edu), or Janelle Belanger (jmbelanger@ucdavis.edu).

Participation Requirements:

  • Belgian Tervuren, Belgian Sheepdog, English Mastiff, Giant Schanuzer, and Poodles (Standard, Miniature, and Toy) of all ages diagnosed with Epilepsy
  • Healthy dogs of the above-mentioned breeds (> 7 years old)

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. Instructions for sample submission, questionnaire regarding your dog’s health and owner informed consent document can be found here. Frequently asked questions and answers can be found here.

Benefits: There is no guarantee that your dog will benefit from its participation in this study. However, such participation may provide veterinarians and researchers with additional information and a better understanding of canine diseases, which could ultimately influence the course of treatment or genetic testing to help your dog and other animals in the future.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample.

Ectopic Ureters in Golden Retrievers, Labrador Retrievers, Newfoundlands and Siberian Huskies

Title: Ectopic Ureters in Golden Retrievers, Labrador Retrievers, Newfoundlands and Siberian Huskies

Purpose: The ureters are the tubes that connect the kidneys to the bladder for the purpose of moving urine out of the body. Sometimes when a puppy is developing during embryogenesis, the ureters do not connect properly into the bladder. When this occurs the ureters are called ectopic. We propose to identify the region of the dog genome associated with ectopic ureters. In order to do this, we will collect blood samples.

Contact: Eric Ontiveros (esontiveros@ucdavis.edu)

Participation Requirements: Labrador Retrievers, Golden Retrievers, Newfoundlands and Siberian Huskies diagnosed with ectopic ureters

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. For more information about submitting samples, please contact Miriam Aguilar (miraguilar@ucdavis.edu) for Labrador Retrievers, Newfoundlands and Siberian Huskies, and Eric Ontiveros (esontiveros@ucdavis.edu) for Golden Retrievers.

Benefits: Although there is no direct medical benefit to your dog, results from this study will benefit science and the discovery of inherited ectopic ureters in the Labrador Retriever, Golden Retriever, Newfoundlands and Siberian Huskies. Results from this study may lead to the development of a DNA based test that will allow breeders to make informed breeding decisions.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample and medical records.

Printable Flyer for Golden Retrievers, Labrador Retrievers and Newfoundlands (PDF)

Printable Flyer for Siberian Huskies (PDF)

Hypertrophic Osteodystrophy in Any Breed

Title: Identifying the genes responsible for hypertrophic osteodystrophy in Weiaraners and other susceptible breeds

Purpose of Study: The purpose of this study is to identify the molecular basis for the bone disease, hypertrophic osteodystrophy.

Contact: Dr. Noa Safra (nsafra@ucdavis.edu)

Participation Requirements: Any dog diagnosed with HOD can be included.

Initial Evaluation for Participation: Radiographic images suggestive of a diagnosis of HOD, together with patient signalment, history and response to treatment are required in order to participate in the study.

Procedures: The only procedure involved a DNA extraction analysis of a blood sample submitted by the owner.

Benefits: There are no direct benefits for enrolling your dog in this study; however, there is a long-term benefit for susceptible breeds, such as the Weimaraner. Once the gene(s) and mutation(s) that predispose Weimaraners to HOD are identified, breeders will be able to select against HOD.

Owner Responsibilities: The owner only needs to submit a blood sample in an EDTA tube from their affected dog for DNA extraction.

Sebaceous Adenitis in Multiple Breeds

Title: A search for possible genetic associations with sebaceous adenitis, an autoimmune disease that destroys hair follicles and leads to hair loss

Purpose of Study: Sebaceous adenitis is a skin disease that is seen in many breeds but most prevalent in the Standard Poodle, Havanese, Akita, and English Springer Spaniel. We aim to determine whether risk for sebaceous adenitis in Standard Poodles can be associated with a specific genetic makeup.

Contact:

Participation Requirements: Dogs must have a confirmed diagnosis of Sebaceous Adenitis in addition to normal parents or siblings.

Initial Evaluation for Participation: None.

Procedures: The only procedure involved a DNA analysis of either 1) a whole blood sample (at least 5 mls) that is not clotted in a sterile tube, or 2) a buccal swab. Please contact Ms. Katy Roberston (krrobertson@ucdavis.edu) for a buccal swab kit. Directions for collection are included on the second page of the study form.

Benefits: There is no direct benefit of this study for you or your dog at this time; however, if a genetic association can be identified, a test could be developed that would predict which dogs carry the trait and may pass it on to their offspring and which dogs may develop the disease in their lifetime.

Owner Responsibilities: The owner only needs to send in the study form in addition to a blood sample or buccal swab per the instructions on the study form.

Publication

Symmetrical Lupoid Onychodystrophy in Bearded Collies

Title: Canine Genetic Disease Project - Symmetrical Lupoid Onychodystrophy

Purpose: Symmetrical Lupoid Onychodystrophy (SLO) is a chronic autoimmune disorder that causes a loss of toenails in many breeds, including Bearded Collies. The age of onset is typically between 3-8 years of age affecting 1-2 nails and eventually progressing to all nails. Scientists believe that heredity may be one of the contributing causes of this disease.

The overall purpose of this study is three-fold:

  • To evaluate the mode of inheritance of canine diseases;
  • To identify the genes responsible for disease expression; and,
  • To join the tools of statistics with the promise of molecular genetics.

Contact: For more information, please contact Dr. Anita Oberbauer amoberbauer@ucdavis.edu), Dr. T.R. Famula (trfamula@ucdavis.edu), or Janelle Belanger (jmbelanger@ucdavis.edu).

Participation Requirements:

  • Bearded Collies of all ages diagnosed with SLO
  • Healthy Bearded Collies (> 8 years old)

Initial Evaluation for Participation: None.

Procedures: The only procedure required is the collection and submission of a blood sample for DNA extraction. Instructions for sample submission, questionnaire regarding your dog’s health and owner informed consent document can be found here. Frequently asked questions and answers can be found here.

Benefits: There is no guarantee that your dog will benefit from its participation in this study. However, such participation may provide veterinarians and researchers with additional information and a better understanding of canine diseases, which could ultimately influence the course of treatment or genetic testing to help your dog and other animals in the future.

Owner Responsibilities: The owner or referring veterinarian needs to collect and submit a blood sample.

If you cannot find what you are looking for, please email us or call (530) 752-5366.