The Canine Genetics Laboratory at Clemson University has funding from the Canine Health Foundation to use the newly available canine SNP array to identify genes having a role in megaesophagus. For full details, please read:
Genetics Test for Megaesophagus in German Shepherd Dogs https://www.akcchf.org/educational-resources/library/articles/genetic-test-for.html
With the advent of SNP tech., the chances of genetic research will be ever increasing. A database of (congenital dx) affecteds will help facilitate the possibilities into probability. It also seems feasible that we might end up with larger numbers of affecteds in a non-suspect (i.e. megaesophagus seemingly not known to be found, or found very rarely in your particular breed), enough to flag researchers that x-amount of potential DNA submissions actually exist. With the blessings of the moderators and the encouragement of a few genetic researchers, I am building this database so that *our* community can best serve the future of all of our affected breeds.
There is one supreme rule (other than very careful data entry) for you to know. I will only release your info back to you so that you can release it to the designated researcher at the appropriate time.
I have spoken with three researchers, each who are very interested in the possibilities of researching megaesophagus. They are at 3 different universities. Each has stated the same scenario, that obviously without DNA samples, there obviously will be no research, that grants can be written but without knowing the possibilities of how many potential DNA samples there are, there is hesitancy as basically, time is $ at each step in the game, and this research isn’t exactly inexpensive. So, it’s up to us… the village… to help them bring the first DNA Test for Megaesophagus to reality. Once this database reaches a decent number in any one of the breeds, I will be contacting the researchers again with a status report on the possibilities. I want to thank each of you here and now for the part each of you can personally play in helping to bring the first mega-E specific genetic research into a state of probability. From the bottom of my heart, I thank you most, *most* sincerely.
Researchers may want families, or may specifically want unrelated dogs. This makes the pedigree important in each scenario. A 10-gen. pedigree for the affected dog/pup is the ideal while, minimally & most easily obtained by the puppy person/dog owner, the 3- or 4-gen is certainly helpful. If you are the registered owner, you can easily obtain either from the AKC. Please see http://www.akc.org/reg/pedigree_overview.cfm for info. You will not be submitting the pedigree to me; rather, keeping it in a safe place to be sent to the researcher when requested.
Availability of relatives and relatedness to other dogs in the database will also be helpful. Honest & open, private communication between puppy person and breeder(s) will vastly enhance the reliability of this database and ultimately, the actual research. ****There is absolutely *no* shame in having produced a litter with megaesophagus in any one or more puppy under any situation. *** But by sharing what is known, vast strides can be made for the future of healthy, non-megaE genes in the future get of our breeds.
DNA collection from the affected is the most important, followed next by sire and dam, which is then followed by siblings.
There are two main methods for collecting samples for DNA isolation. Buccal, or cheek, swabs is the easiest. A swab can be taken and taped in an envelope and stored at room temperature for a long time. Your vet should have the buccal swabs, they can be obtained from the AKC, or I can send a kit out to you at your request. DNA from swabs are definitely better than nothing, but DNA from blood is more useful. Having both per dog is the absolute ideal. Most vets are willing to draw the samples for free if they know it is for research. Blood should be collected in a purple-top tube and stored in a regular refrigerator. The bad thing is that it needs to be isolated within a couple of weeks – and the sooner the better – to give a good yield. Isolated DNA means isolated (the DNA) in a laboratory via chemicals, pipets, centrifuges, & etc. I am providing this info here and now as assuredly there are instances where a new member joins this list and opts for euth, or a dog or puppy becomes so sickly that euth. is recommended and that option is executed rather rapidly. Any owner or breeder is operating under duress at such a time and all possibilities for DNA collection are immediately lost forever. In other situations, the sire or dam may have an accident or be very seniorly and struggling with health issues common in aging. If you find yourself in this situation, please think about how your bitch, dog or puppy could leave a lasting legacy for the future of your breed. I will be able to provide further instruction on where we will send your puppy/dog’s DNA in such an event, and will provide all of my personal contact info at the bottom of this correspondence. Please contact me immediately, no matter the hour, in such an event or possible event. Please print this post out for ease of reference.
* A file will be added to the files section with instructions for collecting canine buccal cells.
Thank you for your contribution. Your input will be added to this database for the breed you indicate. In my reports to researchers, no dogs or owners will be identified by name.
Please answer all that you can. I hereby give my solemn oath for the strictest of strict confidentiality & that your personal info will *only* be used for the purpose as outlined above. The UC Davis Sample Identification Form for the Veterinary Genetics Laboratory is used as my guide for the creation of this database. Simply copy the remainder of this post into the body of a blank post and type your input into a line immediately below the line item header by first striking the ‘enter’ key immediately following the line of text. If you prefer to snail mail your info it can be sent to: cmERp PO Box 520, Spring TX 77375
Registered Name of Dog (No titles)
Call Name of Dog
Date of Birth (mm/dd/yr)
Sex (M or F)
Healthy (Y or N – other than the megaesophagus)
Registered Name of Sire (no titles)
Registered Name of Dam (no titles)
How was the dog diagnosed (list all methods)?
At what age?
At what age were the first symptoms (list) recognized.
How many affecteds in the litter, if *known*?
How many puppies in the litter, if *known*?
I have or can obtain a _____(no) pedigree for the affected puppy/dog which I am potentially willing to share with the researcher obtaining the grant to study megaesophagus in my breed.
Has this puppy/dog ever been diagnosed with Aspiration Pneumonia?
If so, at what age(s).
Please describe health history for unhealthy dog or puppy listed above (i.e. other disorders ):
To help ensure confidentiality level, I am asking you to provide a secret password. Print out a copy of your submission and ensure that your password is on your copy and keep it in a safe place for future reference. This will be important in case you need to contact me with questions about your submission (and ensure that it is not mistakingly given to anyone else), also for changes in e-mail or a physical move (and thus a phone number change). Please remember to contact me with your changes in contact info.