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News and Updates

October, 2015
New Grant for the Development of Simultaneous DNA Testing
The Tibetan Terrier Health and Welfare Foundation has made a $15,000 health research grant to the University of Missouri that will fund the creation and validation of a panel of Tibetan Terrier-related DNA tests that can be performed at one time with a single DNA sample. According to Dr. Gary Johnson from the College of Veterinary Medicine at the University of Missouri, the ability to conduct multiple DNA tests simultaneously from a single DNA sample will be possible as a result of the University’s purchase of an expensive new scientific instrument called a MassARRAY.

The Tibetan Terrier panel of DNA tests is expected to initially include DNA tests for Lens Luxation, Neuronal Ceroid Lipofuscinosis, at least one form of Progressive Retinal Atrophy, and Degenerative Myelopathy. Dr. Johnson, in his grant proposal to the Foundation, noted that this new scientific instrument will lead to lower DNA testing costs for dog owners, since the cost of the proposed panel of tests is expected to be about $100. The MassARRAY device can be used to perform twenty or more simultaneous DNA tests on a single sample according to Dr. Johnson. (Please note that Dr. Johnson?s grant proposal advises it may be a year before everything is ready for panel DNA testing of Tibetan Terriers to begin.)

The creation of a panel of DNA tests for Tibetan Terriers may also lead to breakthroughs in the identification of genetic mutations that cause rare diseases in Tibetan Terriers. Looking forward, researchers will be able to add a test for suspect mutations to the panel of tests for Tibetan Terriers — a cost effective way to get the critical data researchers need to prove suspect mutations are associated with certain diseases.

For more information, or to support Tibetan Terrier Health Research: TTHWF website

Past Stories
PRA Research Update October 1, 2014
Tibetan Terrier Dwarfism Research 10/23/2013
PRA3 Testing Now Available through Animal Health Trust 7/2013
PRA3 Mutation Discovered; Testing to te Offered Starting in July through AHT 5/2013
New Grant To Study PRA Approved 1/2013
PRA Research Update and RCD4 PRA Testing Available 9/2012
CHIC DNA Repository 6/2012
Lymphoma Research 2/12
Information for Breeders on Hermaphrodites (XX Sex Reversal) 1/2012
Furnishings in Tibetan Terriers 11/2011
Older stories

October 1, 2014
PRA Research Update
The University of Missouri has used support from the TTHWF to generate separate whole genome sequences from two different Tibetan Terriers with PRA, one with a relatively early onset and the other with a later onset. We have analyzed both whole genome sequences and identified two plausible causal mutations: one for each of the dogs.

Both mutations are relatively rare among our archived DNA samples. To determine if these new mutations are true causes of PRA, we are eager to test living Tibetan Terriers that have had recent eye examinations by Veterinary Ophthalmologists.

SAMPLES FROM PRA AFFECTED DOGS STILL NEEDED If you have a dog that has been diagnosed with PRA, please consider submitting a blood sample to the University of Missouri to help further their research. Information on Sample Submission If you have questions about sample submission, please contact Liz Hansen at the University of Missouri at hansenl@missouri.edu

October 23, 2013
Tibetan Terrier Dwarfism Research

Recently, a number of Tibetan Terrier breeders have observed puppies in certain litters that fail to grow. The affected pups appear normal at birth and for 2–3 weeks, but thereafter do not gain weight as their normal littermates.


Recently, a number of Tibetan Terrier breeders have observed puppies in certain litters that fail to grow. The affected pups appear normal at birth and for 2–3 weeks, but thereafter do not gain weight as their normal littermates.

At 8 weeks of age affected pups are only 2/3 normal height at withers and body length and weigh only 40% of littermates. The dwarfism is proportionate, meaning that the limbs are not shortened more than other body structures. Some affected puppies exhibit a hair coat that remains soft and wooly many weeks beyond when an adult coat should replace the puppy coat. Affected pups may live for many months or years without major complications, but some have died at 2–3 months of age.

The occurrence of dwarfed Tibetan Terrier pups has characteristics that suggest that it is inherited as a simple autosomal recessive trait. Both male and female pups may be affected, and the parents of affected pups are normal. Typically only one or two pups is a litter are dwarfed, and they have occurred in kennels that are geographically separated.

In an effort to eliminate this disorder, John Fyfe, a canine geneticist, and Kent Refsal, a veterinary endocrinologist at the Michigan State University College of Veterinary Medicine, are attempting to find the mutation that causes Tibetan Terrier dwarfism and to develop a carrier test to aid breeders making mating decisions.
Samples Wanted for Testing
In collaboration with concerned breeders of Tibetan Terriers and the Tibetan Terrier Club of America, the Laboratory of Comparative Medical Genetics is collecting blood samples and pedigrees from dwarfed pups, their parents, and any normal littermates.

The mutation search will be easier if more such samples can be obtained, so we call upon Tibetan Terrier breeders to contact Dr. Fyfe with information and samples from dwarf pups. All pedigree information will be kept in strictest confidence. Dr. Fyfe can be reached by phone at 517-884-5348 or by email.

July 8, 2013
PRA3 Testing Now Available through Animal Health Trust
To order, please click here.
For more information on PRA3 please click here.

May 20, 2013
PRA3 Mutation Discovered; Testing to te Offered Starting in July through AHT
Geneticists at the Animal Health Trust in the UK have discovered a mutation that causes a form of Progressive Retinal Atrophy (PRA) in Tibetan Terriers. This form of the disease is being called PRA3 to distinguish it from other forms of PRA that are caused by different mutations, including the previously identified RCD4 mutation. A DNA test for PRA3 is expected to be available from the Animal Health Trust on July 8, 2013.

For more information, please see this document provided by Cathryn Mellersh PhD, Head of Canine Genetics at AHT: PRA3 INFORMATION

January 1, 2013
New Grant To Study PRA Approved
The Tibetan Terrier Health and Welfare Foundation has announced the approval of a $20,000 grant to Dr. Gary Johnson from University of Missouri to further study Progressive Retinal Atrophy in Tibetan Terriers. PRA is a group of inherited diseases that cause the degeneration of the retina over time, resulting in blindness. By sequencing the genome of two PRA affected TTs (one diagnosed with an early onset form of PRA and the other with later onset PRA), they hope to identify the mutations that cause the forms progressive retinal atrophy found in TTs that are not explained by the previously identified rcd4 PRA. (See below for information about rcd4 PRA testing.) Dr. Johnson's proposal, entitled “Identification of Mutations Responsible for Progressive Retinal Atrophy in TTs by Whole Genome Sequencing” can be seen on the TTWHF website.

September 7, 2012
PRA Research Update and RCD4 PRA Testing Available
IMPORTANT ANNOUNCEMENT FROM THE UNIVERSITY OF MISSOURI:
Earlier this summer Dr. Cathryn Mellersh and colleagues at the Animal Health Trust in England reported the identification of a mutation in a gene named C2orf71. This mutation causes PRA in older members of the Gordon Setter breed and related breeds. We, at the University of Missouri, have identified the same mutation in members of several non-setter breeds including the Tibetan Terrier. This finding prompted us to request a small grant from the Tibetan Terrier Health and Welfare Foundation to estimate the relative importance of the C2orf71 mutation as a cause of PRA in Tibetan Terriers.

As part of this project, we tested for the C2orf71 mutation in DNA from 125 Tibetan Terriers. Our results indicate that the C2orf71 mutation makes a relatively small contribution to the overall PRA problem in Tibetan Terriers. Only about 2% of the Tibetan Terriers have inherited the C2orf71 mutation from both their sire and their dam and are therefore at risk of developing PRA as they approach 10 years of age. Nonetheless, Tibetan Terrier breeders can avoid producing any puppies at risk of developing PRA caused by C2orf71 mutation by testing their breeding stock and ensuring that at least one member of any breeding pair tests “homozygous normal.” Tests can be purchased at the Orthopedic Foundation for Animals website where it is referred to as RCD4 PRA.

It is clear from our study that most of the PRA in Tibetan Terriers is caused by an as yet undiscovered mutation (or mutations). We are currently preparing another grant proposal for the Tibetan Terrier Health and Welfare Foundation to fund additional experiments which may enable us to identify novel causes of Tibetan Terrier PRA. This should lead to the production of new DNA test to assist breeders’ efforts to produce puppies will that maintain healthy retinas throughout their lives.

Gary S. Johnson, DVM. PhD
College of Veterinary Medicine
University of Missouri

June 19, 2012
CHIC DNA Repository
The CHIC DNA Repository collects and stores canine DNA samples to facilitate future research and testing aimed at reducing the incidence of inherited disease in dogs. For information on how to submit samples, see caninehealthinfo.org/dnabank.html

March 10, 2012
Updated Information Sought for Tibetan Terriers with DNA Submitted to the University of Missouri’s TT DNA Bank.
If you contributed your dog's DNA to the University of Missouri's TT DNA bank, please remember to update your dog's health information if your dog is diagnosed with a possible heritable disease (for example, PRA or other eye disease, deafness, orthopedic disorders, AIHA, lymphoma, etc.) since the sample was submitted. Such updates are very helpful in identifying samples that might be useful in future research projects! To update your dog's information, please email Liz Hansen at hansenl@missouri.edu with the information as well as the dog's registered name and registration number.

February 12, 2012
Lymphoma Research
The Broad Institute is actively studying canine lymphoma. For information on their dog mapping projects as well as a video about their cancer project can be found here: LINK
For information on how to submit blood samples to aid their research, please see: LINK
Dr. Jaime Modiano at the University of Minnesota is also conducting research into canine cancer. For information on how to submit tumor samples for research: PDF

January 2, 2012
Information for Breeders on Hermaphrodites (XX Sex Reversal)
XX Sex Reversal is an inherited disorder that has been documented in 28 breeds, including Tibetan Terriers. Dr. Vicki Meyers-Wallen at Cornell University is working to identify the gene mutation that causes the XX Sex Reversal in the hope of developing a DNA test. You can help by contacting Dr. Meyers-Wallen if you think you may have an affected dog. More information on the disorder, including signs and photos.
Call for Samples: Download sample submission guidelines.

November 21, 2011
Furnishings in Tibetan Terriers
A genetic test for “furnishings”/“smooth coat” in Tibetan Terriers is now being offered by VetGen. Read More.
Order Tests.

February 23, 2011
Grant Progress Reports Available
Updates on research into Canine Non-Hodgkin Lymphoma (CHF grant #1113) and Immune Mediated Haemolytic Anemia (grant #1268) are available at the TTHWF website.

February 9, 2011
Research Article on Renal Dysplasia Available Online
A newly released research article on Renal Dysplasia by Mary H. Whiteley, Jerold S. Bell, and Debby A. Rothman is now available online. Note: An Expression of Concern from the PLOS One editors was published online here on 11/8/12

October, 2010
Auto-Immune Disorder Research and Call for Samples
We are happy to announce that in October 2010, the TTHWF has helped to fund an AKC CHF grant to identify the genes associated with Canine Immune-Mediated Hemolytic Anemia through the University of Manchester. The researcher, Dr. Lorna Kennedy, is seeking blood samples (collected in EDTA) from dogs with either IMHA, diabetes or both diseases. Blood samples from unaffected dogs, over the age of 8, would also be helpful for use as controls. For more information about sending samples from affected dogs, email Dr. Kennedy.
More information.

May 17, 2010
PLL and NCL Genetic Testing Recommended
The TTCA Board of Directors and the Health Committee recommend that all breeding stock have a known genetic status for PLL & NCL prior to being bred. Genetic status can be ascertained through testing offered at the University of Missouri or OFA, or as a consequence of knowing both parents have tested genetically clear.

February 11, 2010
The Mutation for NCL in Tibetan Terriers HAS BEEN IDENTIFIED!
The CCL cheek swab test now available.
January 29, 2010 — The CCL test is now available for any TT's who have DNA already on file at U of Missouri!

September 3, 2009
Geneticists identify a mutation for Primary Lens Luxation (PLL) in Tibetan Terriers.
 • Information (link)
 • Order form for those who submitted DNA prior to 9/1/09 (pdf)
 • Order form for a new test for PLL after 9/1/0.(link)
 • Animal Health Trust, UK (link)

We update this page frequently with new information about
Tibetan Terrier health.

USEFUL LINKS:
resources
Information on the care and health of Tibetan Terriers

Celebrating the Long Life of Our Breed
Longevity Listing Table Information is on the Members-Only Health Page

HEALTH TEST INFO:

SAMPLES STILL NEEDED FROM PRA AFFECTED DOGS
If you have a dog that has been diagnosed with PRA, please consider submitting a blood sample to the University of Missouri to help further their research.
Sample Submission Info:
If you have questions about sample submission, please contact Liz Hansen at the University of Missouri.

PRA3

RCD4 PRA

PLL (Primary Lens Luxation)

NCL
(Neuronal Ceroid Lipofuscinosis)


RD/JRD (Renal Dysplasia)

DM (Degenerative Myelopathy)

OFA (Orthopedic Foundation for Animals)

CERF (Canine Eye Registration Foundation)

BAER Test Sites

Other Genetic Test Info

Furnishings/Smooth Coat

OFA Health Clinic Calendar

Health & Genetics Committee Members