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REQUEST FOR RESEARCH SAMPLES from Miniature* or Toy* Poodles diagnosed with Inherited Cataracts or Optic Nerve Hypoplasia or Micropapilla - January 1, 2014.

The Poodle Club of America Foundation, Inc. is supporting research aimed at identifying the molecular causes of Optic Nerve Hypoplasia & Micropapilla and Inherited Cataracts in miniature and toy poodles. OptiGen in collaboration with the research laboratory of Dr. Gustavo Aguirre at the University of Pennsylvania is collecting samples and clinical data on these diseases with the goal of developing diagnostic DNA tests for the conditions.  Research samples from affected dogs are needed for this study.  More complete information on the studies as well as research sample submission forms may be found at Optic Nerve Hypoplasia & Micropapilla and Inherited Cataracts.

* Please note we have focused this study in Miniature and Toy Poodles because it is in these varieties that Optic Nerve Hypoplasia, Micropapilla or Inherited Cataracts are more frequently found. However, if there are Standard Poodles diagnosed with Optic Nerve Hypoplasia, Micropapilla or Inherited Cataracts, we would be delighted to include samples from them as well for the research work.

REQUEST FOR RESEARCH SAMPLES from Golden or Labrador Retrievers diagnosed with Iris Melanoma - March 9, 2012

OptiGen, in collaboration with researchers at the University of Pennsylvania, is collecting samples for research aimed at identifying the mutation(s) responsible for Iris Melanoma in Golden and/or Labrador retrievers. We would like to receive a blood sample (3-5 ml in EDTA/lavender top tubes) form any Golden or Labrador retriever that has been diagnosed with Iris Melanoma before 5 years of age.  If you would like to submit a sample for this research, please contact genetest@optigen.com. We will send you a research form and will request a 5-6 generation copy of the dog's pedigree along with any ophthalmology records that are available. Detailed clinical records, including photographs of histopathology if available, will be helpful for this research.

RESEARCH SAMPLES NEEDED FOR PRA and CATARACTS 

Special Note To Veterinary Ophthalmologists

FREE TESTING FOR PRA-AFFECTED PUREBRED DOGS

Who qualifies?
 Any purebred dog that has been examined by a board certified veterinary ophthalmologist (ACVO, ECVO) and that has been diagnosed with PRA is eligible for review for possible inclusion in the Free Testing program. Status of "PRA suspicious" or "atypical PRA" does not qualify.

Here's how it works:

1. You mail, email, or fax a copy of the eye exam report (CERF report or other) plus a copy of a 4-5 generation pedigree for PRE-APPROVAL before sending a blood sample. If possible, provide an email address for a reply.

2. Wait for a response from OptiGen to learn if your dog has a diagnosis that qualifies for free testing.

3. Once you’ve received the PRE-APPROVAL notification from OptiGen, send a blood sample - at least 3 ml of unclotted blood - according to standard instructions (Ship Sample).
Cheek swab samples are not suitable for most research purposes; a blood sample is greatly preferred. Print out and complete all details of the standard Request Test form (ignore any payment questions). Send this order form with the notation “Approved for Research” clearly printed on the first page.  Including a copy of email correspondence noting the prior approval by OptiGen is helpful.

What happens next?

OptiGen will test the sample from your PRA affected dog for the known and/or likely causes of the disease in that breed.  For those samples that represent breeds where no PRA mutations have yet been identified, personal communications on test results will be issued from OptiGen as the research is conducted.  OptiGen frequently relies on the expertise of two veterinary ophthalmologists, Dr. Gustavo Aguirre at the University of Pennsylvania and Dr. Gregory Acland at Cornell University. With the assistance of their consultations and academic research efforts, OptiGen strives to help advance the understanding of inherited eye diseases in dogs.

INHERITED CATARACTS

Modeled on our PRA research program, these projects are aimed at identifying the genes and mutations responsible for specific cataracts found in certain breeds.  There are many types of cataracts but we are studying only 2 types at this time: 

  • Bilateral, Posterior Subcapsular type that develops between 1.5 yrs and 3 yrs of age in the following breeds: Golden Retrievers, Labrador Retrievers, Rottweilers, Bernese Mountain Dogs, and English Springer Spaniels 
  • Bilateral Posterior Cortical type that develops between 1 yr. and 3 yrs of age in the Siberian Husky, Samoyed and the Alaskan Malamute
  • Bilateral Anterior Cortical Cataracts that develop between 3 yrs and 4 yrs of age in the American Cocker Spaniel.  These cataracts tend to progress with age.  Because of the high variability in cataract type, it is preferred that all dogs involved in this project have been examined by Dr. Gustavo Aguirre.

    The 3 steps for submitting cataract samples for research are the same as those for submitting PRA research samples (as described above).

SPECIAL NOTE TO VETERINARY OPHTHALMOLOGISTS

OptiGen greatly values any research input from the diplomats of American and European Colleges of Veterinary Ophthalmologists. We would like to encourage the submission of any samples that you deem affected with the eye diseases described above as well as any other samples that might represent inherited diseases of research interest.  Examples of the latter might include: choroidal hypoplasia in breeds not previously identified as having Collie Eye Anomaly, optic nerve colobomas, microphthalmia, multi-focal retinopathy in breeds not yet recognized as having CMR mutations, etc. Although we appreciate being contacted prior to submission, prior approval is not required for samples being sent directly from a veterinary ophthalmologist. 

Our staff will be happy to help you with any questions on how to submit these research submissions.  

OptiGen frequently relies on the expertise of two veterinary ophthalmologists, Dr. Gustavo Aguirre at the University of Pennsylvania and Dr. Gregory Acland at Cornell University. With the assistance of their consultations and academic research efforts, OptiGen strives to help advance the understanding of inherited eye diseases in dogs.

 

 

     

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OptiGen®, LLC · Cornell Business & Technology Park · 767 Warren Road, Suite 300 · Ithaca, New York 14850
Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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