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Dr Bek discovers new genetic disease
We’re very proud to announce that Dr. Bek and Alpine Animal Hospital have been credited for our contribution to the discovery of a previously unidentified genetic disease in Tenterfield Terriers.
Following two years of intensive research and DNA testing, it has now been accepted by the veterinary community and breeder’s groups that Neonatal Hypothyroidism, or Congenital Hypothyroidism with Goiter (CHG) in Tenterfield Terriers is caused by a mutated gene, first identified by Dr. Bek right here in Porepunkah.
The story begins two years ago when Dr. Bek discovered a potential genetic link to CHG in Tenterfield Terriers. Working at night and in spare moments out of her very busy schedule Bek initiated a programme aimed at confirming or eliminating a genetic cause for the disease in the breed.
Collaborating with the Tenterfield Terrier Club of Queensland and with Professor John C. Fyfe, D.V.M., Ph.D, Associate Professor of Microbiology and Molecular Genetics at Michigan State University, USA, within months the research programme had isolated the mutated autosomal recessive gene and confirmed it as the cause of the disease.
Attention then turned to developing a reliable DNA test. Providing her own time and expertise for free, in less than two years Dr. Bek and her colleagues had developed an effective, low cost Bucal (cheek) Swab test and made it available to breeders. The test can be used to accurately identify dogs that may be carriers of the disease.
Similar efforts to develop DNA tests for other inheritable genetic diseases have taken as long as 15 years so we’re pretty pleased with the part our little rural hospital has played in both identifying the disease and in developing a reliable test.
The majority of breeding stock of Tenterfield Terriers in Australia has now been tested and carriers are being identified. With the support of responsible breeders and with continuing testing we hope it will be possible for CHG to ultimately be eliminated, leaving the breed completely free from this inheritable, fatal disease.
We should point out that if you own a Tenterfield Terrier your pet will not be affected by CHG. The disease affects only newborn puppies and pups affected by CHG do not survive more than a few weeks. If you are planning to breed your dog however, it’s a good idea to have him/her tested to ensure they’re not a carrier. Dogs who are carriers cannot themselves be affected by the disease, and it requires both parents to be carriers to produce an affected litter. If neither parent is a carrier their pups will never be affected or be carriers. If only one parent carries the defective gene the resulting puppies will not be affected but some may be carriers.
If you are planning to introduce a Tentie puppy into your home as a pet, you need have no concerns that they will ever be affected by CHG. They’re as great a pet as they ever were.
We’re proud of the role we were able to play in this important discovery. A lot of people don’t know that although we are just a small country veterinary hospital we have our own research facility, where we undertake a number of projects, mainly in genetics research.
Despite the time and the cost involved we believe that the research we do here is an important part of our work. Although providing the best possible care for our patients and a supportive and respectful environment for our clients is always our first priority, we think that the role of the veterinarian should go beyond that. As animal health care professionals we strongly believe we have a wider responsibility to, wherever possible, help advance the cause of animal health generally.
Although we are just small players in the field of research, these days it’s possible to collaborate with colleagues around the world. As the success of the CHG project indicates, working together even a small research facility can help advance knowledge in the field of veterinary science. We think that’s a good thing for all animals.