BERNESE MOUNTAIN DOG HEALTH

♦ CURRENT RESEARCH STUDIES ♦


Researcher's exploration of genetic components responsible for disease processes allow for development of powerful genetic tests, screening tools and treatment options veterinarians, owners and breeders can utilize to manage and advance health in dogs.

Health Research studies and projects covered in this document are as follows:

Histiocytosis;
Mast cell tumors / Mastocytoma;
Lymphoma / Lymphosarcoma;
Hemangiosarcoma;
Osteosarcoma;
Melanoma;
Degenerative myelopathy;
Renal Dysplasia;
Portosystemic shunt [liver shunt];
Epilepsy;
Progressive retinal atrophy;
BMD DNA Repository.

HOW CAN YOU HELP?

If your Bernese Mountain Dog has been diagnosed with any of the diseases listed above we encourage you to become a part of the solution. Participation in health research studies can be done simply by providing data you already have or by providing simple lab tests performed or collected by your veterinarian. The information you share with researchers by participating in health research studies will enable them to provide our breed community with legitimate, scientifically proven information on diseases which affect the Bernese Mountain Dog's length and quality of life.

Healthy Berners Can Help Too! Studies are noted.

♦ HISTIOCYTOSIS ♦

OVERVIEW - MALIGNANT HISTIOCYTOSIS
Malignant histiocytosis is a hereditary disease found in the Bernese Mountain Dog. The disease is 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.
For more information on this disease please see:
http://www.histiocytosis.ucdavis.edu/
http://www.bmdinfo.org/Health/Histiocytic_Diseases_of_the_Bernese_Mountain_Dog.php

ABOUT THE MALIGNANT HISTIOCYTOSIS RESEARCH STUDIES

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The three laboratories listed below have been funded by the AKC-Canine Health Foundation. The doctors at these facilities collaborate on research pertaining to malignant hystiocytosis. All of the researchers listed below will share samples as long as you provide permission for them to do so on the sample submission forms provided by each organization.
HISTIOCYTOSIS RESEARCH STUDIES LIST

STUDY #1 - NORTH CAROLINA STATE RESEARCH PROJECT
Dr. Matthew Breen is currently conducting a study of the "Genetics of Canine Cancer" at the North Carolina State University - Raleigh, NC.
Any Bernese Mountain Dog with a suspected histiocytosis from known pedigrees can participate.
Submission instructions and the consent form can be found at www.breenlab.org
Contact Pat Long at pat@bmdinfo.org for additional information.

To participate, they request:
• Blood and tissue samples from cancer affected dogs.
• Blood from unaffected relatives of cancer -affected enrolled dogs.
• Dogs treated with chemotherapy - blood only
• Dogs given prednisone are still eligible to contribute both blood and tissue.

NOTE: Dr. Breen is also researching soft tissue sarcoma, lymphoma, hemangiosarcoma, and osteosarcoma. Samples for these studies will continue to be recruited. (See Dr. Breen's website for more information.)
For more information on Dr. Matthew Breen's research visit http://www.breenlab.org

STUDY #2 - NATIONAL HUMAN GENOME RESEARCH INSTITUTE PROJECT (HEALTHY BERNERS NEEDED TOO)
Research Organization: National Human Genome Research Institute Project (NHGRI)
Contact Person: Dr. Heidi Parker
Contact Phone: 301-451-9390 or 301-496-7299
Email Address: Dr. Parker or dog_genome@mail.nih.gov
Project Web Site: Not applicable.
ABOUT THIS RESEARCH PROJECT
Elaine 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 that have been or will be positively diagnosed with MH. They still need more samples for their work.
They need samples from:
• dogs that have had (or will have post-mortem) a positive diagnosis for histiocytosis
• 'control' samples from healthy Berners over the age of 9 that have not been diagnosed with cancer.
It is crucial to know if these control Berners ever develop malignant hystiocytosis, as well as any other type of cancer or tumor during their lifetime. So please inform the Dog Genome Project at NHGRI if this occurs at any time after the submission of the control sample.
WHAT IS NEEDED? (IF YOU PARTICIPATE)
If you suspect that your dog has MH, call (phone numbers listed above) for a free kit. The kit includes two blood collection tubes with yellow tops marked 10cc of ACD Solution, and submission instructions. Your vet can also supply or acquire the tubes by contacting the researchers.
The scientists also need a copy of the pedigree for all dogs in the study at least through the grandparents.

STUDY #3 - EUROPE - CNRS - UNIVERSITÉ DE RENNES RESEARCH PROJECT (FRANCE) (HEALTHY BERNERS NEEDED TOO)

HISTIOCYTOSIS - UNIVERSITÉ DE RENNES - FRANCE/EUROPE
Research Organization: CNRS / Université de Rennes
Contact Person: Dr. Catherine André or Dr. Benoit Hédan
Contact Phone: 02 23 23 45 09 (from France)
+ 33 2 23 23 45 09 (from abroad)
Email Address: catherine.andre@univ-rennes1.fr or benoit.hedan@univ-rennes1.fr
Biobank sample manager: cani-dna@univ-rennes1.fr
Project Web Site: http://dog-genetics.genouest.org

ABOUT THIS RESEARCH PROJECT
Catherine André and Benoit Hédan at the Université of Rennes in France are doing research to better characterize the clinical forms of histiocytoses affecting BMDs, and to search for the genetic causes of these diseases, especially the cancer form Histiocytic Sarcoma (HS, also called Malignant Histiocytosis). They are using blood drawn from Bernese Mountain Dogs that are diagnosed with HS, as well as samples from affected and unaffected dogs that are related.
They hope to identify the genes involved in Histiocytic Sarcoma, to benefit Bernese, other affected dog breeds, and also humans affected by this very rare cancer, for better diagnosis, prediction, and treatments.
WHAT IS NEEDED? (IF YOU PARTICIPATE)
If your BMD is over 10 years of age and has never been diagnosed with any cancer: a blood sample is useful as a control (it is essential that you contact the researchers if your dog is later diagnosed with any form of histiocytosis or any cancer).
If your BMD presents symptoms of Histiocytic Sarcoma: a blood sample from your dog and relatives is needed.
The following items are required:
• 5 ml of blood in EDTA (lilac top) tubes (name, breed and sex, written on the tube)
• pedigree information of each dog (the AKC number for US dogs)
• a note from the vet indicating the clinical status of the dog
HOW TO BEGIN
If Histiocytic sarcoma is suspected, it is necessary to have pathology done to establish whether the dog is definitely affected and to provide the pathology reports. All information will be kept confidential.
Please send blood samples at room temperature by rapid delivery mail.
If your BMD is affected with Histiocytic sarcoma, please contact the researchers (shown above) for further information about submitting tissue samples.
From Europe, send to:
Dr. Catherine André and Dr. Benoit Hédan
UMR6061, CNRS/ Université de Rennes 1
Faculté de Médecine
2, Av. Léon Bernard
35043 Rennes Cedex, France

Note: the researchers are also studying any other cancers in BMDs (lymphoma, mastocytoma, osteosarcoma, melanoma, etc). In these situations, the same samples are being recruited (5ml Blood in EDTA tubes; for tissue samples, please contact the researchers).
See the website for more information: http://dog-genetics.genouest.org

♦ CANCERS - OTHER CANCERS ♦

The following researchers are collaborating on: Hemangiosarcoma,Osteosarcoma, Melanoma and Lymphoma. They can all be contacted for information on submitting samples for these cancers.

Research Collaborators

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Researcher: Dr. Breen - samples/blood, fresh tissue
See http://www.breenlab.org for more info.
Email contact: Dr. Breen - info@breenlab.org

Researcher: Dr. Lindblad-Toh - samples/blood
See http://www.broad.mit.edu/mammals/dog/donate.html for more info.
Email contact: dog-info@broadinstitute.org
(also collecting blood samples for mammary tumors and mast cell tumors)

Researcher: Dr. Modiano - samples/blood, tissue
For more info see PDF "Samples We Need" at http://www.modianolab.org/studyInfo/documents/TheSamplesWeNeed.pdf .
Email contact: Mitzi Lewellen - lewel001@umn.edu
Phone: 612-626-6890, press option 1
Contact Mitzi for assistance with all sample submissions, to obtain necessary forms, shipping information, and sample collection kits.

♦ NEUROLOGICAL - SPINAL - DEGENERATIVE MYELOPATHY ♦

OVERVIEW - DEGENERATIVE MYELOPATHY
Degenerative myelopathy is a progressive disease of the spinal cord in older dogs.
See Degenerative Myelopathy Basics at: http://www.caninegeneticdiseases.net/DM/basicDM.htm for more information.

ADDITIONAL EDUCATIONAL MATERIALS - DEGENERATIVE MYELOPATHY
Article by R.M. Clemmons, DVM, PhD
Associate Professor of Neurology & Neurosurgery, University of Florida
http://neuro.vetmed.ufl.edu/neuro/DM_Web/DMofGS.htm

AKC Canine Health Foundation DM Videos
'Dr. Richard Vulliet on Degenerative Myelopathy' & 'How to Care for a Dog with Degenerative Myelopathy'
AKC CHF website at: http://www.akcchf.org/video/

ABOUT THE DEGENERATIVE MYELOPTHY RESEARCH PROJECT

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Research Organization: Canine Genetic Diseases Network - University of Missouri-Columbia
Primary Contact Person: Dr. Joan R. Coates
Department of Veterinary Medicine and Surgery
900 E. Campus Dr., Clydesdale Hall
College of Veterinary Medicine
University of Missouri
Columbia, MO 65211
Contact Phone: 573-882-7821
Email Address: CoatesJ@missouri.edu
Project Web Site: http://www.caninegeneticdiseases.net/DM/mainDM.htm
ABOUT THIS RESEARCH PROJECT
Canine Genetic Diseases Network
The Canine Genetic Diseases Network headed by the University of Missouri-Columbia has found a genetic marker for degenerative myelopathy in some breeds. They also are continuing to study the pathology of this disease, and to look for genetic markers for other breeds. To do this, they are examining tissues from the nervous system of dogs with DM symptoms. When the time comes to have your dog humanely euthanized they would be very grateful for your assistance in obtaining an autopsy. They have a protocol that will assist with collection of tissues from specific areas of the nervous system.
For specific information on submitting samples see: Degenerative Myelopathy Submissions at:
http://www.caninegeneticdiseases.net/DM/cordprotocol.pdf

♦ RENAL DYSPLASIA ♦

OVERVIEW - RENAL DYSPLASIA
"Canine renal dysplasia (RD), an inherited condition affecting the developmental maturation of the kidney. The key clinical signs of RD include (but are not limited to) excess water intake and urination from a young age (8 weeks to 2 years of age), and small, irregular-shaped kidneys observed by ultrasound examination. The disease often leads to renal failure." For more information on this disease please see:
http://www.akcchf.org/research/funded-research/1766.html

ABOUT THE RENAL DYSPLASIA STUDIES

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To participate, they request:
• Have your vet draw a 5 ml blood sample and place it in an EDTA tube (lavender top).
• Shipping can be through regular mail in a small box or padded envelope with a small ice pack. Blood should not be frozen and should be received within 48 hours of collection.
• A Consent Form is needed for each sample. To print a copy, click on the following link, http://www.broadinstitute.org/files/shared/mammals/dog/pdfs/BroadDogInfoConsent_May09.pdf, or contact Michelle Perloski at perloski@broadinstitute.org
• They also need blood samples from older, healthy Bernese Mountain Dogs over the age of 8 years. These blood samples should be sent to: Broad Institute, Attn: Michele Perloski, 7 Cambridge Center (6112-A), Cambridge, MA 02142
Reference CHF grant #01766 with your paperwork.
• For questions regarding the logistics of sending samples, contact Michele Perloski, Sample Coordinator, Broad Institute, 617-714-7792, perloski@broadinstitute.org
• For questions about the study, contact Dr. Andrew Lundquist, dog-info@broadinstitute.org, or Julie Jackson jjackbcop@aol.com, 206-930-3290.

♦ PORTOSYSTEMIC SHUNT (PSS) [LIVER SHUNT] ♦

ABOUT THIS DISEASE
Portosystemic shunt (PSS) is a devastating condition affecting the liver. The liver is essential in removing many toxins formed in the intestines. Blood from the portal vein is required for normal liver growth and function. In a dog with a liver shunt, blood from the portal vein does not reach the liver. As a consequence, the liver does not grow to a size commensurate with the body's needs. In the case of a shunt, toxins bypass the filtering processes of the liver to reach the systemic blood circulation and ultimately the brain. One of the most damaging of neurotoxins is ammonia, which when it reaches the brain disrupts normal brain function.
Liver shunts can be classified in several ways: congenital (present at birth) or acquired (the result of ingesting toxins or illness), intrahepatic (located inside the liver) or extrahepatic (located outside the liver), single shunt or multiple shunts. Large breed dogs such as the Bernese Mountain Dog typically suffer from congenital, intrahepatic portosystemic shunts. Often these are single shunts. Symptoms of liver shunts in dogs usually show up at an early age. In some cases (acquired shunts), signs of a canine liver shunt don't show up until a dog is older, when kidney and bladder problems develop.
Symptoms associated with liver shunts include: depression, failure to grow at a normal rate, behavioral changes (staring into space, circling, and disorientation), weakness or lethargy, seizures, inability to gain weight, vomiting and diarrhea Surgery is the only long-term treatment, but is not always successful. In Bernese Mountain Dogs the abnormal blood vessel typically lies inside the liver. Such shunts are called intrahepatic portosystemic shunts (IHPSS).

ABOUT THE LIVER SHUNT RESEARCH PROJECT

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Research Organization: Utrecht University, Netherlands
Contact Information: Netherlands & Europe
Dr. F.G. van Steenbeek, Researcher
Department of Clinical Sciences Companion Animals
Faculty of Veterinary Medicine
Utrecht University, The Netherlands
Contact Details:
Yalelaan 106
Room 2.025
3584 CM UTRECHT
The Netherlands
Phone number (direct): +31 30 253 2848
Email Address: F.G.vanSteenbeek@uu.nl
Project Web Site: Not applicable

ABOUT THIS RESEARCH PROJECT Dr. F.G. van Steenbeek at the Utrecht University, Netherlands, is working with the Dutch BMDC to find a genetic marker for intrahepatic portosystemic shunts in BMDs so that breeders can determine if dogs carry this defective gene.
Research at the University of Utrecht (Netherlands) has shown that intrahepatic shunts in Irish wolfhounds are caused by a genetic defect that has an autosomal recessive mode of inheritance. Further research on the condition in BMD's may make it possible to determine the mode of inheritance and eventually establish a genetic test for intrahepatic shunts in our breed, which will allow breeders to make sound breeding decisions to minimize the incidence of the condition while retaining genetic diversity.
WHAT IS NEEDED? (IF YOU PARTICIPATE)
To isolate the gene causing this disease, the researchers need blood from affected dogs, their parents, and as many littermates as.
If your dog resides in the US or Canada, you should send your samples to Katie Minor, RN, at the University of Minnesota. If your dog resides in Europe, please contact Dr. Frank van Steenbeek directly at F.G.vanSteenbeek@uu.nl.
To participate please provide:
• 4 to 8 ml of blood in EDTA coated tubes (purple top) from the affected dog and as many relatives as possible sent via express mail;
• Veterinarian's report on the diagnosis of the shunt (blood test for ammonia, radiograph, surgery, etc); and
• Pedigree of the affected dog.
For dogs residing in the US or Canada, prior to sending your dog's sample and information, please notify Katie Minor, RN, University of Minnesota, in advance that your sample is coming at minork@umn.edu
For dogs residing in Europe, please contact Dr. Frank van Steenbeek directly at F.G.vanSteenbeek@uu.nl
BMDCA member, Nancy Melone, Ph.D., can be contacted at nancymelone@icloud.com to answer general questions about study participation for US participants or the defect.
Updated: Dec 12, 2013


♦ EPILEPSY ♦

ABOUT THIS DISEASE
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 due to 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 but all involving episodic abnormal electrical activity in the brain.

ABOUT THE CANINE EPILEPSY RESEARCH PROJECT

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Research Organization: Canine Epilepsy Research Consortium
Contact Person: Liz Hansen
Contact Phone: 573-884-3712
Email Address: HansenL@missouri.edu
Project Web Site: http://www.canine-epilepsy.net
ABOUT THIS 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 are looking for a genetic marker for epilepsy.
For this study, idiopathic epilepsy refers to repeated seizures with no identifiable underlying cause and would include genetic disease.
WHAT IS NEEDED? (IF YOU PARTICIPATE)
• Blood samples for DNA isolation from any purebred dogs with epilepsy in their families.
Submission forms can be found on the above web site.

♦ PROGRESSIVE RETINAL ATROPHY (PRA) ♦

ABOUT THIS DISEASE
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.

ABOUT THE PROGRESSIVE RETINAL ATROPHY PROJECT

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Research Organization: Optigen
Contact Person: Jeanette Felix
Contact Phone: 607-257-0353
Email Address: genetest@optigen.com
Additional Information: sandcastlebmds@earthlink.net
Project Web Site: http://www.optigen.com/
ABOUT THIS RESEARCH PROJECT
Dr. Aquirre at Optigen has been instrumental in developing genetic tests for PRA in a number of breeds. He and his fellow researchers now feel they have a good lead as to the type of PRA in Bernese as well as for the other three related Swiss breeds, the Appenzellers, the Entelbuchers (a test has now been developed for Entelbuchers), and the Greater Swiss Mountain Dogs.
WHAT IS NEEDED? (IF YOU PARTICIPATE)
To pursue the research, Optigen needs:
• contact with any owners of dogs that have been determined to be PRA carriers or any affected dogs
• to review the eye exam reports of carriers/affected dogs
• copies of the pedigrees of carriers/affected dogs
• blood samples of carriers/affected dogs
* The information collected by Optigen is kept confidential.

♦ BMD DNA Repository (Healthy Berners needed too) ♦

As part of our mission to improve the health and longevity of our Berners, the Berner-Garde Foundation (BGF) and Michigan State University (MSU), with support from the Bernese Mountain Dog Club of America (BMDCA), have established a Repository that collects, stores and maintains DNA and tumor tissue samples from Bernese Mountain Dogs. The goal of the Repository is to facilitate research on serious genetic diseases affecting the breed. The samples collected, along with the health and pedigree information in the Berner-Garde Database will assist researchers who have been hampered in the past by the lack of samples as well as insufficient medical and pedigree information.

ABOUT THE BMD DNA REPOSITORY RESEARCH PROJECT

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Project Web Site: http://www.bernergarde.org/home/repository.aspx

Owners looking for more information on how to submit samples see:
http://www.bernergarde.org/home/repository_samples.aspx

Clubs looking for information on how to conduct a repository submission clinic see:
http://www.bernergarde.org/home/repository_clubs.aspx

For more in depth information on the repository see:
http://www.bernergarde.org/home/repository_p2.aspx


bernergarde