Samples from Pembroke Welsh Corgis for ALS Research
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is devastating disorder of older adults that is characterized by progressive loss of muscle function. Ultimately victims of this disease become completely paralyzed and eventually die when the muscles that control breathing and swallowing no longer work.
An analogous disease called degenerative myelopathy (DM) occurs in older dogs from a number of breeds, but is particularly common in Pembroke Welsh Corgis. The disease in Corgis usually has an onset at about 8 years of age with progressive loss of hind limb function early in the disease. In the early stages affected dogs can still manage to have a reasonable quality of life if they are provided with a “wheelchair” type device such as that shown in the picture above. Unfortunately, as with ALS patients, muscles in addition to those of the hind limbs eventually become involved and the dogs eventually will become completely paralyzed if allowed to live long enough. Many affected dogs are euthanized before they reach this stage of the disease.
We are conducting research to examine the changes that occur in the muscles and in the nerves that control them in Corgis. By examining these tissues from dogs euthanized at different stages of the disease, as well as from unaffected age-matched Corgis, we can develop a picture of how the disease develops and thereby develop a rational approach to therapy that we hope will apply to both DM and ALS. In order for these studies to succeed, we need nerve and muscle tissue donations from both affected and particularly unaffected Corgis that are being euthanized. We provide kits to the veterinarians to preserve and ship us the tissues for analyses. If you have an older Pembroke Welsh Corgi that is being euthanized for any reason and would like to assist with this important research by donating tissues from your dog, please contact either Professor Martin Katz (firstname.lastname@example.org) or Dr. Joan Coates (email@example.com) and we will arrange to have a kit for the tissue preservation and shipping sent to your veterinarian.
Samples from Dogs and Cats that may have Inherited Neurodegenerative Diseases
The NDRL is soliciting submission of blood and tissue samples from dogs and cats for our research on a wide range of inherited neurodegenerative diseases so that we can identify the mutations responsible for these disorders and develop effective treatments. With the cooperation of dog owners and breeders we have identified the mutations responsible for many inherited diseases in dogs. This has enabled us to offer DNA tests to breeders so that they can avoid producing affected puppies by screening dogs before they are bred. Of particular interest for our research are samples from dogs that may be suffering from neuronal ceroid lipofuscinosis (NCL). Signs of NCL include vision problems, anxiety, loss of coordination, declines in metal function, personality or behavior changes, and/or seizures. Some or all of these signs may be present in affected dogs, and the severity of signs progresses over time.
If you have a dog that is exhibiting signs suggestive of NCL or from another neurological disease that appears to be inherited, please contact Prof. Katz. We are interested in samples from any dog breed. Since dogs from any breed can suffer from NCL, please do contact us if you think that your dog may have this disease regardless of the breed. We recently identified NCL in an individual Blue Heeler (Australian Cattle Dog) and we are particularly interested determining whether there are other dogs from this breed that may be suffering from NCL. NCL has also been reported in cats. None of the genes involved in feline NCL have yet been identified. If you own a cat that is exhibiting progressive behavioral changes, loss of coordination, vision problems, and/or seizures, please contact Prof. Katz.
What type of samples do we need from dogs and cats?
Initially we will request that you submit a sample that can be used for DNA isolation and genetic analysis. The sample can be either blood or a cheek swab (we provide the cheek swab kits). Along with the sample, we will ask that you complete a clinical history/symptom form and provide us with pedigree information. We ask that if you supply us with a sample for DNA analysis, you also commit to providing us with tissues from your dog when he or she dies or is euthanized. We provide kits with instructions to the veterinarians who do the tissue collections. From all dogs that die as a result of neurological disease, we request that brain tissues be provided. In addition, for dogs to be used in the DM studies, we also request spinal cord and muscle tissue. Specific information on submitting samples and information for the NCL studies can be obtained by contacting Prof. Katz. Information for sample submission for the DM studies can be obtained from Dr. Coates. If your veterinarian is unable to do the tissue collections, we can assist you in locating a veterinarian who will be able to collect the samples. For the NCL studies, we will cover all costs associated with sample collection and shipping.
Why should you consider donating samples from your dog or cat?
Most hereditary neurodegenerative diseases in dogs are inherited as recessive traits. This means that healthy parents that carry the mutation responsible for a disease can have offspring that suffer from the disease while showing no disease signs themselves. If you supply us with DNA from your dog, we can test for the mutations responsible for a variety of inherited neurodegenerative diseases. We will provide you with the results of the DNA testing, which is useful in confirming any disease diagnosis, which can help guide treatment for your dog. Research using donated tissues will also enable us to develop DNA tests that can be used to reduce the chances of propagating the disease within a dog breed. Your contribution will also help us in developing therapies for the canine and feline diseases as well as for the corresponding diseases in people.