New research is being done to identify the gene and mutation responsible for inherited cataracts in Cocker Spaniels, and subsequently, to develop a genetic test that can identify genetically normal, affected, and carrier dogs. Imagine what this can mean for millions of dogs everywhere, beyond Cocker Spaniels: Inherited cataracts being researched and wiped out. The implications are huge, and this new study needs your help.
The purpose of Dr. Gustavo Aguirre’s research is to identify the gene and mutation responsible for inherited cataracts in Cocker Spaniels, and subsequently, to develop a genetic test that can identify genetically normal, affected, and carrier dogs. The mode of inheritance for this condition for many years now has been characterized as autosomal recessive meaning that affected dogs have inherited the mutant gene from both parents. Dr. Aguirre is from the University of Pennsylvania.
Cocker Spaniels, like many breeds, have a spectrum of clinical characteristics which affect dogs at various ages. The focus of this research is to identify the gene/mutation for the most common form of cataracts, one occurring in the 4-10 year age range. There seems to be somewhat limited data on the rate of occurrence for this condition in Cocker Spaniels, as no one organization has concentrated on collecting survey data in recent years.
Anecdotally, there are many Cocker lovers who either have had cataracts in our Cocker lines or know someone who has had cataracts in their breeding stock. In ASCF (American Spaniel Club Foundation ) discussions with Dr. Aguirre, he cited a study based on CERF data from 2000-2008 that suggested cataracts were diagnosed in 7.3% of all Cocker Spaniels examined in those years. Dr. Aguirre feels this number is somewhat suspect since it includes both acquired and inherited cataracts and the latter category might include different genetic causes. Nonetheless, as Dr. Aguirre pointed out, the consequence of even a lower number is cause for great concern. For example, if we assume that say 5% is a more accurate number that translates into approximately 30% of all Cockers examined would be carriers of this condition.
Many ASC (American Spaniel Club) members are probably aware that Dr. Aguirre, with help from Deb Rudman and many other dedicated breeders in the northeast, has started collecting DNA along with his clinical exams to get an initial set of data to begin the research work. There has been some concern expressed that the collections are regionally limited. This is due only to current limited staffing and as Dr. Aguirre assured us. Once the contract with ASCF is finished and funding is provided, Dr. Aguirre can begin to hire the dedicated personnel that will facilitate broadening the collection process and support the work of the study at the University of Pennsylvania.
The fundraising is all being done by ASC-F and ASC-F is the one that will be financially responsible. We look forward to working with the fancy in helping ASCF meet this financial commitment for the betterment of our breed. While success is never guaranteed in research, this is an excellent opportunity to potentially make a big difference for our breed, which is Cocker Spaniels.
If you would like to be involved and participate/help fund the study in any way possible, please connect directly with Marlene Ness of Nesmar Cockers at firstname.lastname@example.org
The above information was relayed to Fidose of Reality through Marlene Ness as per Charles Born, Communications Director for American Spaniel Club Foundation.