Att Kelpie Owners & Breeders

[Tapua]

This will be of interest to all Kelpie owners or breeders. Many would know about the late Dr Wiltons research into Cerebellar Abiotrophy (CA) in Kelpies or better known as Ataxia. A number of people submitted blood for research 3+ years ago and for those samples to be used in current research a consent form needs to be submitted. Furthermore if you own an affected or own have a sibling or progeny of an affected sire or dam please consider submitting blood slamples. Affected samples are most sought after, with a full 3 or 5 generation pedigree and a signed consent form.( I bred ANKC Kelpies from 91 -2010 under the Mimbil prefix)

This is cross posted from Facebook.

Research Project: Cerebellar abiotrophy - Ataxia in the Australian Kelpie · 153 like this.21 hours ago · Would you like to participate in the study?

If so, please download the information statement from here: https://dl.dropbox.com/u/26784242/Information%20Statement%20for%20the%20CA%20in%20Kelpies%20Project.pdf and the consent form from here: https://dl.dropbox.com/u/26784242/Consent%20Form%20for%20the%20CA%20Kelpies%20Research%20Project.pdf. A completed consent form and a printed pedigree (if available) are required for all samples sent in for this research.

Please email Annie at: [email protected], for further information or clarification.

Edited January 25, 2013 by Tapua

[koalathebear]

This is a beautiful breed and the disease is so heart-breaking. If people have affected Kelpies - please contribute to the study. It would be so great if they could make the same progress that was possible with CA in border collies

The facebook page for the research is here: http://www.facebook.com/CA.Kelpies

The project aims to identify the molecular cause and mechanism of CA in Australian Kelpies. Genetic variants that underlie neuronal cell loss and cerebellar ataxia are defined through identification of functional sequence differences that are only present in the genome of CA affected Kelpies. Variant effects will be confirmed by investigation of the functional effect of potential causative at the protein level. Further histopathological examination of the cerebellum from affected dogs are proposed, building on a limited published study to explore the pattern of cell loss in the cerebellum of CA affected Kelpies.

Successful identification of a causative mutation for this condition will enable development of a test for CA carriers and an informed breeding program can be put in place, an outcome sought by the Kelpie breeders. Development of a reliable genetic test (using the identified mutation) will assist breeders to screen for Kelpies affected with CA as well as to identify carriers of CA and so avoid the production of affected pups. The objective of developing the test and breeding program is to eventually eliminate the disease gene from the Kelpie breed. In addition, identification of the genetic basis of CA in Kelpies could provide candidate genes for investigating similar disorders in other dog breeds as well as in humans.

Edited January 26, 2013 by koalathebear

[Jumabaar]

Finnish Hounds also have CA, and I believe Helsinki University has been researching the disease. Would be good to see some collaboration there too :)

Thankfully I havent experienced this particular disease but all my dogs have given blood and other samples to the Uni. Its great to see this getting a little more momentum at last!!

[koalathebear]

I'm so glad the research wasn't abandoned after the first researcher died - although they need anyone who contributed samples the first time to re-consent for their samples to be used

Edited January 26, 2013 by koalathebear

[temperamentfirst]

I'm so glad the research wasn't abandoned after the first researcher died - although they need anyone who contributed samples the first time to re-consent for their samples to be used

They may not need re-consent as Sydney and NSW universities have a research partnership agreement which covers most of these arrangements. It also depends if the research is being continued by someone who was already involved with Alan's work, and on how the consent was worded. Sydney Uni has also continued Alan's research on Border Collies and I cannot speak too highly of those involved.

[Jumabaar]

I'm so glad the research wasn't abandoned after the first researcher died - although they need anyone who contributed samples the first time to re-consent for their samples to be used

They may not need re-consent as Sydney and NSW universities have a research partnership agreement which covers most of these arrangements. It also depends if the research is being continued by someone who was already involved with Alan's work, and on how the consent was worded. Sydney Uni has also continued Alan's research on Border Collies and I cannot speak too highly of those involved.

The researcher is the one who has said that consent forms needed to be resigned as they didnt originally cover collaborators.