Genetics

Photo: Flyer for Cleft Lip or Palate Clinical Trial for Dogs

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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

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:

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 hair samples from the horse’s mane and/or a blood sample to analyze the 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 affected 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)

NEW! Chronic Progressive Lymphedema in Friesian Horses

Title: Chronic Progressive Lymphedema in Friesian Horses

Purpose: Chronic Progressive Lymphedema (CPL) is a debilitating disorder affecting the lymphatic system in the lower limbs of many draft horses. The higher rate of incidence within certain draft horse breeds (Shires, Clydesdales, Belgians) seem to indicate there is a possible genetic component to CPL. The purpose of this study is to identify the genetic component underlying CPL in Friesian horses.  

Contact: Brittany Dalley (bdalley@ucdavis.edu)

Participation Requirements: 

  • Friesian horses with and without CPL
  • Horses without CPL must be a minimum of 10 years old

Initial Evaluation for Participation: None.

Procedures: 

  • Evaluation by a licensed veterinarian for CPL
  • Collection of a blood sample for DNA extraction
  • Measurements on several locations of the legs
  • Completion of a survey to assess the role of environmental factors

Benefits:

  • Results from this study will improve understanding of CPL in draft horses and could lead to improved management strategies that mitigate disease and slow progression

Owner Responsibilities: 

  • Keeping all scheduled appointments at the UC Davis VMTH
  • For owners who cannot bring their horse in to the VMTH, the owner will need to have their horse checked for symptoms of CPL by their veterinarian. Additionally, a blood sample will need to be drawn to submit for DNA studies. Owners then have the option of submitting measurements (to determine the role of size as a factor for CPL development) and a survey (assessing whether environmental factors might contribute to CPL symptom development).
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)

Printable Flyer (PDF)

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 the owner or 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.
Squamous Cell Carcinoma in Haflinger Horses

Title: Genetic Investigation of Limbal Squamous Cell Carcinoma in Haflinger Horses

Purpose: Squamous cell carcinoma is one of the most common forms of cancer to affect the eye, specifically where the clear cornea meets the white of the eye, or the “limbus”. This type of eye cancer affects Haflingers more than other breeds, so the objective of this study is to determine the role genetics plays in limbal squamous cell carcinoma (LSCC) in Haflinger horses. This study is designed to determine the incidence of LSCC in the breed, to determine the mode of inheritance if a single gene is involved, and identify candidate genes for further investigation.

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

Participation Requirements: Haflinger horses with confirmed LSCC (confirmed by pathology), or horses that have never been diagnosed with LSCC that are at least 13 years old. Horses that are suspicious for LSCC are invited to participate, but confirmation would be required prior to inclusion in the study.

Initial Evaluation for Participation: Any horse with confirmed LSCC does not need to be evaluated in person to participate. Participation for horses with confirmed LSCC involves providing (1) a copy of a pathology report confirming LSCC, (2) the horse’s registered name for pedigree analysis, and (3) a hair sample. Horses that have not had LSCC and are at least 13 years old will need to be examined by a boarded veterinary ophthalmologist to confirm that they don’t have LSCC. 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 LSCC are present.
    • For some horses, hair samples may be collected from the mane, similar to pulling the mane for show but only pulling a very small sample of about 50 hairs. This hair would be used to isolate DNA for genetic studies to help understand which genes may be involved in the development of LSCC.
  • 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 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 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 Haflingers 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: 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)

Cats

Myasthenia Gravis

Title: MHC Haplotyping of cats with Acquired Myasthenia Gravis

Purpose of Study: Acquired myasthenia gravis is an immune mediated disease. In people, there is an association between genes (HLA DR3) and the myasthenia gravis. If the same is true in cats, it may allow us to identify cats at risk before the development of disease and develop new treatments. The purpose of this study is to determine if cats with acquired myasthenia gravis have a similar genes (MHC haplotype). We will use DNA collected from blood cells to do the genetic analysis.

Contact: Contact Dr. Vernau at (530) 304-9450 or kmvernau@ucdavis.edu.

Participation Requirements: Cats with a confirmed diagnosis of acquired Myasthenia Gravis.

Initial Evaluation for Participation: None.

Procedures: The only procedure involved is for the owner or referring veterinarian to submit a blood sample (at least 2 mls) in a small EDTA tubes.

Benefits: There is no direct benefit of this study for you or your cat; however, the information may allow us to identify cats that are at risk and develop new treatments.

Owner Responsibilities: The owner or referring veterinarian only needs to send in a blood sample that has been collected in a small EDTA tube by over-night FedEx, sent Monday to Thursday.

Dogs

NEW! 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: Miriam Aguilar at miraguilar@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 Miriam Aguilar (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)
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.

Printable Flyer (PDF) - German Shepherds

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.

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.

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)

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: For more information about submitting samples, please contact:

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.

Myasthenia Gravis in Any Breed

Title: MHC Haplotyping of dogs with Acquired Myasthenia Gravis

Purpose of Study: Acquired myasthenia gravis is an immune mediated disease. In people, there is an association between genes (HLA DR3) and the myasthenia gravis. If the same is true in dogs, it may allow us to identify dogs at risk before the development of disease, and it may allow us to develop new treatments. The purpose of this study is to determine if dogs with acquired myasthenia gravis have a similar genes (MHC haplotype). We will use DNA collected from blood cells to do the genetic analysis. The genetic analysis will be done in the UC Davis School of Veterinary Medicine.

Contact: Contact Dr. Vernau at (530) 752-1393, (530) 304-9450, or kmvernau@ucdavis.edu

Participation Requirements: Dogs with a confirmed diagnosis of acquired Myasthenia Gravis.

Initial Evaluation for Participation: None.

Procedures: The only procedure involved a DNA analysis of a blood sample submitted by the owner (at least 5 mls) in 1-2 EDTA tubes.

Benefits: There is no direct benefit of this study for you or your dog; however, the information may allow us to identify dogs that are at risk and develop new treatments.

Owner Responsibilities: The owner only needs to send in a blood sample that has been collected in 1-2 tubes of EDTA by over-night FedEx, Monday to Thursday.

Pulmonary Hypertension in Any Breed

Title: The Role of Genetics in Canine Pulmonary Hypertension and the Response to Standard Treatment with Sildenafil

Purpose: We are investigating the role of a common canine genetic variant on the condition of pulmonary hypertension. This genetic variant is being evaluated to see if it impacts the severity of disease or the response to the oral medication, sildenafil citrate, the most commonly used drug for the treatment of this condition. Information provided by this study will provide better guidelines for the treatment of dogs with pulmonary hypertension.

Contact: For more information, please contact Dr. Joshua Stern at jstern@ucdavis.edu or 530-752-2475.

Participation Requirements: Dogs diagnosed with pulmonary hypertension

Initial Evaluation for Participation: 

  • Diagnosis of pulmonary hypertension confirmed by a complete echocardiographic study that was done by the UC Davis VMTH Cardiology service; and,
  • A recommendation from the veterinarian to give oral sildenafil for treatment of the condition.

Procedures: If you agree to be involved in this study:

  • Initial visit: We will collect a small blood sample and then perform a non-invasive assessment of blood flow, which will involve shaving a small area (the size of a postage stamp). You will be asked to give the sildenafil orally to your dog as prescribed by your veterinarian.
  • 25-35 days later: We need you to return to the hospital while your pet is receiving the medication to have the echocardiogram, blood sampling and shaved patch for vascular function assessment performed again.
  • You (the owner) will be asked to fill out a brief health questionnaire for your dog at each visit.

Benefits: There is no charge for you to allow your dog to participate in this clinical trial. The study will cover all costs associated with the diagnostic tests, examination fees and the 1-month supply of sildenafil medication. You will be responsible for covering costs associated with any adverse effects that your dog experiences secondary to the prescribed medication.

We cannot promise any benefits to your dog or other animals from your taking part in this clinical trial; however, possible benefits include better understanding of the disease process and mechanisms for predicting patients response to medical therapy.

Owner Responsibilities: You will be asked to complete two brief questionnaires (one at each visit), administer all prescribed medications for at least 30 days, and return while your pet is receiving this medication for a reevaluation appointment at the end of the 30-day period.

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.

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.