Genetics

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

NEW! 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.

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.

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

Printable Flyer (PDF)

NEW! 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.

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.

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

Printable Flyer (PDF)

Hoof Wall Separation Syndrome (HWSS)

Title: Hoof Wall Separation Syndrome in Connemara Ponies

Purpose of Study: Hoof Wall Separation Syndrome (HWSS) is an inherited condition seen in Connemara ponies and typified by the dorsal hoof wall splitting away from underlying structures. The condition results in afflicted ponies having to support weight on the sole of the hoof instead of the dorsal hoof wall, causing severe pain and a diminished quality of life.

HWSS is particularly troubling for the Connemara community because the parents of affected ponies are themselves completely unaffected.  Investigation into the underlying genetic cause of HWSS has the potential to inform these breeding decisions, and could also provide insight into the disease pathophysiology. Sequencing of candidate genes within a specific region on the genome is currently underway, and any functionally relevant genetic differences identified will be validated using a larger sample set.  

Participation Requirements: Connemara ponies diagnosed with Hoof Wall Separation Syndrome

Initial Evaluation for Participation: Please contact Carly Stevens (cstevens@ucdavis.edu) or Miriam Aguilar (miraguilar@ucdavis.edu) to confirm disease presence.

Procedures: The only procedure required is the collection and submission of a DNA sample. Please contact Carly Stevens (cstevens@ucdavis.edu) or Miriam Aguilar (miraguilar@ucdavis.edu) for information about how to submit samples. 

Benefits: There is no direct benefit of this study for you or your pony at this time; however, development of a DNA based test will allow breeders to make informed breeding decisions.

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

Contact: Carly Stevens (cstevens@ucdavis.edu) or Miriam Aguilar (miraguilar@ucdavis.edu) for more information.

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.

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.

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

Printable Flyer (PDF)

Cats

Feline Infectious Peritonitis

Title: Feline Infectious Peritonitis study

Purpose of Study: Feline Infectious Peritonitis (FIP) is an infectious disease that kills 1 in 100 to 1 in 300 of all cats in the U.S. However, the incidence is 5 to 10 times greater among young cats coming from catteries and shelters. It is a disease that is 100% lethal, and is heartbreaking for breeders and for the families that lose affected kittens and young cats. The purpose for this study is to find genetic markers to identify FIP susceptible cats and to use these markers to breed for resistance. In order to identify favorable or unfavorable genetic traits, we need to concentrate our studies on bloodlines within breeds of cats that are either inordinately susceptible or seemingly resistant. Such bloodlines exist in virtually all breeds of cats.

Participation Requirements:

  • Cats that have developed FIP, regardless of age
  • Healthy cats of any age that are close relatives (sire, dam, sibling) to cats that have developed FIP
  • Healthy cats of any age from bloodlines that have been so far free of FIP

Initial Evaluation for Participation: None.

Procedures: The only procedure involved is for the owner or referring veterinarian to submit a DNA sample and complete a questionnaire. Please visit the FIP webpage through the Center for Companion Animal Health for detailed procedures and instructions.

Benefits: There is no direct benefit of this study for you or your cat; however, the information may allow us to identify FIP susceptible cats and to use these markers to breed for resistance.

Owner Responsibilities: The owner or referring veterinarian needs to send in a DNA sample and complete the questionnaire. Please visit the FIP webpage through the Center for Companion Animal Health for detailed procedures and instructions.

Contact: Contact the Community Medicine service at 530-752-9811 to make an appointment. For additional information, please visit the FIP webpage through the UC Davis Center for Companion Animal Health.

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.

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.

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

Dogs

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.

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.

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

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.

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.

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).

Autoimmune Diseases in Italian Greyhounds

For information, please visit the Italian Greyhound Autoimmune Study webpage through the UC Davis Center for Companion Animal Health.

Brain Tumors in Brachycephalic Breeds

Title: Genome wide association in canine primary brain tumors

Purpose: Brachycephaly, a trait characterized by a short muzzle and wide head, is associated with brain tumors and respiratory problems. This trait is found in several breeds, including Boxers, Bulldogs, and Boston Terriers We are attempting to uncover the genetic cause for brachycephaly in dogs while looking for genes linked to brachycephaly that may increase the risk of developing a brain tumor.

Initial Evaluation for Participation: Examination by Dr. Dickinson

Procedures: We are collecting DNA from dogs known or suspected to have a brain tumor. For information, please contact Dr. Dickinson (pjdickinson@ucdavis.edu) or Christy Chessman (530-752-1393 or 530-754-0606).

Benefits: There is no direct benefit to you or your dog; however, identification of these genes may allow for:

  • Selective breeding to reduce the frequency of brain tumors in brachycephalic dogs
  • Possible new therapies targeting defective genes

For dogs with confirmed tumors, we can discuss treatment options and available clinical trials that could help treat your dog's tumor.

Owner Responsibilities: Please contact Dr. Dickinson (pjdickinson@ucdavis.edu) or Christy Chessman (530-752-1393 or 530-754-0606).

Contact: For information, please email Dr. Dickinson at pjdickinson@ucdavis.edu or call Christy Chessman (530-752-1393 or 530-754-0606).

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.

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.

Contact: Zena Wolf (ztwolf@ucdavis.edu)

Dry Eye Syndrome 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.

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. 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). Additionally, please do not administer any medications to treat your dog’s dry eye for two weeks 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.

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

Documenting Genetic Diversity in Brittanys

For information, please visit the Brittany Genetic Research webpage through the UC Davis Center for Companion Animal Health.

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.

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.

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).

Ectopic Ureters in Golden Retrievers, Labrador Retrievers, Newfoundlands and NEW! 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.

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.

Contact: For more information about submitting samples, please contact:

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.

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.

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

UPDATED! Inherited Myopia (Near-sightedness): Understanding the Disease in Labrador Retrievers

Title: Genetic Investigation of Inherited Myopia in the Labrador Retriever

Purpose of Study: Myopia, or near-sightedness, is an inherited condition in the Labrador retriever, affecting about 15% of the breed. We propose to identify the region of the dog genome associated with myopia in the Labrador retriever. In order to do this, we will collect DNA samples (blood), A-scan, and quantitative noninvasive measurements of the refractive state (where the eye is focused). The entire genome will be evaluated for an association with myopia.

Participation Requirements: Purebred Labrador Retrievers (one-time participation only, please!)

Initial Evaluation for Participation: None

Procedures:

  • An eye exam to test if your dog is near-sighted, during which your dog will be restrained by trained personnel
  • Collection of a small blood sample for DNA testing, which may require hair to be shaved so we can access a vein
  • A routine, non-invasive amplitude modulation scan (A-scan) to determine the length of your dog’s ocular globe and if there are any flaws

Benefits: There is no charge for you to allow your dog to participate in this clinical trial. All costs associated with the study will be paid by the sponsor/department. You will receive a free eye examination by a board-certified veterinary ophthalmologist.

We cannot promise any benefits to your dog or other animals from your taking part in this clinical trial. Although there will be no direct medical benefit to your dog, results from this study will benefit science and the discovery of inherited myopia in Labrador retrievers.

Owner Responsibilities: If you allow your dog to participate in this study, you will be responsible for bringing your dog in to the Veterinary Medical Teaching Hospital for testing on the scheduled date you are provided (NOTE: Your dog’s participation will not to exceed six (6) hours).

Contact: Monica Motta (530-752-3510 or mjmotta@ucdavis.edu)

Printable Flyer (PDF)

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.

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.

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

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.

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.

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

Sebaceous Adenitis in Poodles

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.

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.

Contact:

NEW! Spontaneous Chronic Corneal Epithelial Defect in Boxers

Title: Phenotype and Genotype of SCCED (Spontaneous Chronic Corneal Epithelial Defect) in Boxers

Purpose of Study: Spontaneous Chronic Corneal Epithelial Defects (SCCEDs) or indolent ulcers cause ocular discomfort and require multiple procedures to assist in their healing. It is seen more frequently in Boxers in comparison to many other breeds. We are interested in characterizing this disease better with advanced imaging techniques and identifying the genetic components of this disease.

Participation Requirements:

  • Boxers that have or had SCCED (affected)
  • Boxers that have never had corneal ulcers over 8 years of age

Initial Evaluation for Participation: None

Procedures: For all dogs, we will:

  • Perform a routine eye exam
  • Examine the back of the eye following dilation
  • Stain the eyes with fluorescein to assess for corneal ulcers and digitally photograph the eyes
  • Collect blood for genetic analysis

Select patients will also receive ultrasonic pachymetry, advanced imaging under sedation, including spectral domain optical coherence tomography (non-contact imaging) and confocal biomicroscopy (imaging in which a gel on the instrument contacts the cornea) to carefully image the cornea, as well as digital slit lamp biomicroscopy to examine and digitally photograph the patient’s eyes.

The examination and advanced imaging may be performed annually in order to track progression of the disease in affected dogs and to monitor corneal health in the case of control dogs.

Benefits: The study will cover all costs of the study and up to $200 of the costs of any complications from the sedation, blood sampling or the imaging.

Your dog will receive a thorough eye examination at no charge. Additional benefits could also include the ability 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: You will be responsible for bringing your dog in for the ophthalmic exam and blood collection, but if asked to do the advanced imaging, you may have to bring your dog in annually (for 1-2 years). Additionally, you will be responsible for withholding any ocular medications for 48 h prior to the appointment. If your dog is selected for the advanced imaging under sedation, you will be responsible for withholding food (but not water) from your dog the morning of the appointment.

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

Printable Flyer (PDF)

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.

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.

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).