If you have a Bernese Mountain Dog (BMD) who is suffering from a congenital disease, you have our heartfelt sympathy. But it may offer some comfort to you to know that there are many teams of veterinary, medical, and genetic professionals around the world working to find solutions to these diseases.
Such research can lead directly to testing and selective breeding that will help eliminate these devastating illnesses. Research, however, requires the study and identification of dogs who carry these diseases, and that is how you and your trusted BMD companion can become a part of the solution. Often such studies can be done simply by providing data you already have or by providing simple lab tests performed or collected by your veterinarian.
Your dog could be the hero that saves the breed!
Some projects--highlighted in green and noted in the Current Research List--also need samples/info from healthy BMDs. If you have a healthy Berner, check the green projects to see how you too can make a difference!
The following diseases are currently under research. If your dog has been diagnosed with one of these illnesses, research will greatly benefit from your help. Each ailment is discussed in more detail in the individual following sections, along with links for more information and a printable "data sheet" for use by you and/or your veterinarian.
Please help keep this information current. If you learn that the status of a project has changed, know of new research not listed, or are aware of any additions or corrections to the information provided, please notify Pat Long at: pat@bmdinfo.com.
Malignant histiocytosis is a hereditary disease found in the Bernese Mountain Dog and characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected. Histiocytes are a component of the immune system that proliferate abnormally in this disease. In addition to its significance in veterinary medicine, this condition is also important in human pathology.
North Carolina State Research ProjectA study of the "Genetics of Canine Cancer" is underway by Dr. Matthew Breen at the North Carolina State University at Raleigh, NC. Any Bernese Mountain Dog with a veterinary diagnosis of soft tissue sarcoma or malignant histiocytosis, and a known pedigrees can participate.
For more information: View the Project Data Sheet
National Human Genome Research Institute ProjectElaine Ostrander and Heidi Parker at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) are studying the heritable factors involved in susceptibility to malignant histiocytosis (MH), and are using blood drawn from Bernese Mountain Dogs who are diagnosed with MH. They need samples from affected dogs and also need "control" samples from healthy Berners over the age of 9 who have not been diagnosed with cancer.
For more information: View the Project Data Sheet
From Europe — Universite de Rennes Research Project in France Catherine André and Benoit Hedan at the University of Rennes in France are researching to better characterize the clinical forms of the disease, and to search for the genetic cases of the disease. They are using blood drawn from Bernese Mountain Dogs that are diagnosed with MH, as well as samples from affected and unaffected dogs that are related.
For more information: View the Project Data Sheet
Mast cell tumors (MCT) are cancerous proliferations of mast cells. Although they can and will spread throughout the body, the danger from mast cell tumors arises from the secondary damage caused by the release of chemicals that they produce. These chemicals can cause systemic problems that include gastric ulcers, internal bleeding, and a range of allergic manifestations. Clearly, mast cell tumors affect both lifespan and quality of life.
Osteosarcoma is the most common type of malignant bone cancer, accounting for 35% of primary bone malignancies. Osteosarcoma occurs most often in the metaphyseal region of tubular long bones. It is a malignant connective (soft) tissue tumor whose neoplastic cells present osteoblastic differentiation and form tumoral bone.
Broad Institute Research ProjectIf you suspect that your dog has a mast cell tumor or osteosarcoma, please contact the Broad Institute to learn how to proceed to submit a blood sample to participate in the study to map risk factors for mast cell tumors or osteosarcoma respectively.
For more information: View the Project Data Sheet
Progressive retinal atrophy (PRA) is a long recognized, hereditary, blinding disorder. It is inherited as a simple autosomal recessive in most breeds. The first modern description of this problem was in Gordon Setters in Europe in 1911, but since then PRA has been recognized in most purebred dogs.
Optigen PRA Research Project Dr. Aquirre at Optigen has been instrumental in developing genetic tests for PRA in a number of breeds. He and his group now feel that they have a good lead for the type of PRA in Bernese as well as the other three related Swiss breeds, the Appenzellers, the Entelbuchers (a test has now been developed for Entelbuchers), and the Greater Swiss Mountain Dogs.
For more information: View the Project Data Sheet
Liver shunts, (portosystemic shunts) are defects in the portal vein which connects the liver to the rest of the circulatory system. This defect affects many breeds, including Bernese Mountain Dogs. The liver removes toxins such as ammonia from the blood; shunts prevent blood from reaching the liver. Consequently, the liver does not develop properly as the puppy grows. In addition, toxins such as ammonia bypass the liver and reach the body′s blood circulation, including the brain. Neurological symptoms begin in the first year of life and without treatment the condition is fatal. Surgery is the only long term treatment, but is not always successful. Work by researchers at Utrecht University and others has shown that portosystemic shunts are most likely inherited.
Utrecht University (Netherlands) Research ProjectDr. Jan Rothuizen at the Utrecht University, Netherlands, is working with the Dutch BMDC to find a genetic marker for portosystemic shunts in BMDs so that breeders can determine whether dogs carry this defective gene. His laboratory would like to have blood from affected dogs, their parents and as many littermates as possible.
For more information: View the Project Data Sheet
Epilepsy (sometimes referred to as a seizure disorder) is a common chronic neurological disorder that is characterized by recurrent unprovoked seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or synchronous neuronal activity in the brain. Epilepsy is usually controlled, but not cured, with medication. Epilepsy should not be understood as a single disorder, but rather as a group of syndromes with vastly divergent symptoms which all involve episodic abnormal electrical activity in the brain.
Canine Epilepsy Research Consortium Research Project The Canine Epilepsy Research Consortium (www.canine-epilepsy.net) headed by the University of Missouri-Columbia and the University of Minnesota is studying the basis of epilepsy in all breeds. They would like blood samples for DNA isolation from any purebred dogs with epilepsy in their families.
For more information: View the Project Data Sheet
It has been observed by several fanciers that a number of Bernese seem to have suffered symptoms similar to Multiple Sclerosis in humans. These symptoms occur in these dogs in middle age, and are slowly progressive and debilitating. In most cases we know of, the dogs have been euthanized due to their debilitated state in middle age. We are trying to gather more information for a neurologist who is interested in learning more about this problem.
These symptoms do not occur overnight. They are symptoms that get progressively worse, and cannot be improved with medication. For example, treatment with antibiotics for urinary problems will not help if your dog has this syndrome.
Neurological Research Project This project focuses on Bernese Mountain Dogs, ages 5-8 years at onset, with any of the following symptoms:
Note: Some dogs also experience bowel and/or urinary incontinence.
For more information: View the Project Data Sheet
Berner-Garde Foundation and Michigan State University, with support from the Bernese Mountain Dog Club of America, have established a repository that will collect, store and maintain DNA and tissue samples from a large population of BMDs, whether affected with a disorder or not, along with pedigree and medical history information. The Repository will be a reliable resource for investigations of genetic and complex diseases that affect Bernese Mountain Dogs as well as other dog breeds and humans with similar disorders.
For more information: View the Project Data Sheet
Hip dysplasia is a hereditary disease that, in its more severe form, can eventually cause crippling lameness and painful arthritis of the joints. It is caused by a combination of genetic and environmental factors. It can be found in many animals and occasionally in humans, but is most common in large breed dogs. Hip dysplasia is one of the most studied veterinary conditions in dogs, and the most common single cause of arthritis in the hips.
University of Michigan and VetGen The University of Michigan and VetGen are studying the DNA from families in which more than two dogs are affected with hip dysplasia. The data collection phase has been closed, and the actual research phase has begun.
For more information: http://www.VetGen.com.
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