Topic: GOOD NEWS - PLL Gene Mutation has been found

[Tadi]

DIE SENSATION!!!
Heute ist der Tag der Tage für den Mini!!!!

Haben eben eine E-mail vom AHT bekommen, dass die endgültige Mutation gefunden ist und möglicherweise schon Ende Oktober den endgültigen PLL-Test.

Wahnsinn!!!

Posted on: September 04, 2009, 04:03:08 PMHere is the email from the AHT... with the BEST NEWS EVER!!!!

Dear All,
 
It with very great pleasure that I am able to tell you that we have, at long last, identified the mutation that causes PLL.
 
The discovery was made by members of the AHT canine genetics team, in collaboration with David Sargan's research group (Cambridge University) and David Gould (Davies Veterinary Specialists).
 
We had hoped to be able to offer breeders a linkage test before the end of the year, but in fact the DNA test that will shortly be made available will be based on the exact mutation that causes this horrible condition so will considerably more accurate.
 
Brief details will be placed on our website by the end of the day and the test will hopefully be availaible by the end of October 2009.
 
Please note - the test is not available yet.  We will make full details available as soon as all details have been finalised. 
 
We will also provide full information on how to request results for dogs whose samples contributed to the research. 
 
Please watch our website for full details as they emerge.
 
Over the coming days and weeks we will be formally notifying all relevant Breed Club secretaries and health Co-ordinators but please feel free to share this exciting news with whoever you like.
 
I would personally like to thank all of you who have worked with me tirelessly over the years on this project, providing samples, information & support.  It is announcements like this that make my job so rewarding.
 
Have a good weekend.
 
Cathryn


Hey Adrian, when will we drink the promised champange?

I’M SO HAPPY!!!

Greetings
Zori & Tadi

[Stubborn Head]

Oh man....ich bin so glücklich, das es jetzt endlich soweit ist!!! Ich glaub ich m,ach heute Abend auch erst mal ne Flasche Chamus auf!! :drinks:

[vomBollhorst]

Danke für die schnelle Info!

Einfach Klasse!!

LG Günter

PS: Hätte 1000000 Fragen, aber erst mal sacken lassen :wbt: :tbt:

[ChaosEmpire]

More information from america is available here: http://www.caninegeneticdiseases.net/GLX/mainGLX.htm

Owner who have send them DNA samples can already request results (this is not for people who send the Samples to England/AHT)
Posted on: September 04, 2009, 07:21:16 PMThe official statement of AHT: http://www.aht.org.uk/news.html#pll

Geneticists identify a mutation for Primary Lens Luxation (PLL) in several breeds.
(September 2009)

A mutation responsible for the development of primary lens luxation in many breeds of dogs has been identified by geneticists working in the Kennel Club Genetics Centre at the Animal Health Trust, led by Dr Cathryn Mellersh, in collaboration with Dr David Sargan (Cambridge University) and Dr David Gould (Davies Veterinary Specialists).

A DNA test for this mutation is expected to be available by late October, 2009.

Primary Lens Luxation (PLL) is a well-recognised, painful and blinding inherited eye condition that affects many breeds of dog. In affected dogs the zonular fibres that support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. If the lens falls into the anterior chamber of the eye glaucoma and loss of vision can quickly result.

The team of scientists have identified a mutation that is responsible for the development of PLL in several breeds, including the Miniature Bull Terrier, the Lancashire Heeler, Tibetan Terrier, the Jack Russell Terrier, the Parson Russell Terrier, the Patterdale Terrier, the Sealyham Terrier and the Chinese Crested dog.

A DNA test soon to be made available at the Animal Health Trust can be used to determine a dog’s genotype with respect to this mutation. Dogs will be identified as CLEAR (has two normal copies of the gene), CARRIER (has one normal copy and one mutated copy) and AFFECTED (has two copies of the mutation). Breeders will be given an estimate of each dog’s risk of developing PLL depending on their genotype and will be able to make sensible breeding decisions that minimise the risk of producing dogs that will become affected by this serious and debilitating condition.

Breeders and owners will be able to test their dogs using a simple test kit that will be made available shortly. It will be possible to collect DNA from dogs to be tested via a simple cheek swab which will be included in the test kit, along with all information, necessary forms and full instructions.

PLEASE NOTE: THIS TEST IS NOT YET AVAILABLE. FULL DETAILS WILL BE POSTED ON THIS WEBSITE AS SOON AS THEY HAVE BEEN FINALISED.

Owners who submitted samples for the PLL research prior to September 1, 2009 may request test results using a form that will also shortly become available on this website.

We would like to sincerely thank all the many owners and breeders, from all over the world, who have contributed DNA and information from their dogs to this project. This discovery would not have been possible without them. We would also like to thank everybody who has made a financial donation to support the research.

[arcazy]

More info from the MBT List

Hi Everyone,

I wanted you to know that I have talk with Liz Hansen at the University of
Missouri College of Veterinary this morning and I have GREAT NEWS!!!!!!!! !!!

There has been over 200 blood tests sent in ... Liz Hansen gave me quick
breakdown this morning of 69 that they have results on at this time. Here
is the breakdown

19 Mini bulls were sent in by owner as being affected and the test confirmed
with diagnosis "Affected".

50 Mini bulls were tested out of the ones tested 28 were identified as
normal and 22 were identified as carriers.

The University of Missouri will very soon in the near future be addressing
what paperwork for those of you who have submitted blood how to get your
results. I will keep all posted as to any news I have from here out.

This is great news!!!

I am hoping to have Liz Hansen do a presentation at one of our bigger shows
coming next year.

Deb Guerrero
MBTCA Head of Health
"Have a Nice Day!"
http://www.cambria- minibullterriers .com

 

[ChaosEmpire]

Hi Susie

just wanted to post this

It shows that all affected got tested as affected, and also that there are much more free, than most of us have expected
hopefully the other ~150 in america wont decrease this "good" percentage

[arcazy]

Only 69 results so far but it is a very positive start, I am not surprised to be honest and I am staying very optimistic on this one  :girl_wink:

[Adrian]

i'm very surprised that on these 69 none is affected
how many interbreds in these 69 ?

[ChaosEmpire]

adrian

the results are for 50 "unknown"
the other 19 have been samples of affected, tested as affected

28 free
22 carrier
0 affected

[Bulli-Mama]

Bin auch sehr happy... :yahoo:

könnte man bitte mal die letzten Post etwas in deutsch zusammen fassen...?
ich versteh nur die Hälfte  :blush2:

[Adrian]

adrian

the results are for 50 "unknown"
the other 19 have been samples of affected, tested as affected

28 free
22 carrier
0 affected

yeah but 0 affected on 50 unknown
it is just some very few results from not so random i suppose.

anyway, looking forward to see how things will turn.

[arcazy]

This is the entire email and the great news is it's not just MBT's who will benefit from this DNA test, I would think there will be some celebrating in the dog world this weekend  thumbsup

> Date: Fri, 4 Sep 2009 15:49:04
> To: <VOPH-L@LISTSERV. UGA.EDU>
> Subject: [VOPH-L] Primary Lens Luxation gene identified
>
>
> Dear All
> I have just today received word from Dr Cathryn Mellersh at the Animal
> Health Trust, Newmarket, UK that she and co-workers have succeeding in
> identifying the mutation causing Primary Lens Luxation in several breeds
> here in
> the UK. I have copied her emails (with her permission given below) for
> your
> information.
> Regards
> Stuart
>
>
> Stuart R Ellis BVSc CertVOphthal MRCVS
> Panellist
> BVA/KC/ISDS Eye Scheme
> Preston
> UK
>
>
>
>
> It with very great pleasure that I am able to tell you that we have, at
> long last, identified the mutation that causes PLL.
>
> The discovery was made by members of the AHT canine genetics team, in
> collaboration with David Sargan's research group (Cambridge University)
> and
> David Gould (Davies Veterinary Specialists) .
>
> We had hoped to be able to offer breeders a linkage test before the end
> of
> the year, but in fact the DNA test that will shortly be made available
> will be based on the exact mutation that causes this horrible condition
> so
> will considerably more accurate.
>
> Brief details will be placed on our website by the end of the day and the
> test will hopefully be availaible by the end of October 2009.
>
> Please note - the test is not available yet. We will make full details
> available as soon as all details have been finalised.
>
> We will also provide full information on how to request results for dogs
> whose samples contributed to the research.
>
> Please watch our website for full details as they emerge.
>
> Over the coming days and weeks we will be formally notifying all relevant
> Breed Club secretaries and health Co-ordinators but please feel free to
> share this exciting news with whoever you like.
>
> I would personally like to thank all of you who have worked with me
> tirelessly over the years on this project, providing samples, information
> &
> support. It is announcements like this that make my job so rewarding.
>
>
> ************ ********* ********
>
>
> Dear Cathryn
> That is fantastic news, well done to all concerned. The breeders will be
> very grateful. Does this apply to all the breeds known to be affected?
> Kind regards
> Stuart
>
>
> ************ ********* ********
>
>
> Hi Stuart,
>
> So far we've found the mutation in Mini bulls, lancashire Heelers, Jack
> russells, parson russells, patterdales, Sealyham terriers, Tibetan
> terriers
> and Chinese crested dogs. We also tested PLL affected Border collies,
> Lhasa
> Apsos, Shar peis and Cockers but they didn't have the mutation, so
> presumably they have a different genetics basis to their PLL and the test
> won't be
> applicable to them.
>
> Now we have the mutation it will be very easy to test any PLL affected
> dog
> of any other breed, to see if it shares the mutation, so should you come
> across anything wild & wonderful with PLL please send us a swab.
>
> We're very happy with this result. Its be a long, community effort but
> we
> got there in the end.
>
> Best wishes
>
> cathryn
>
> -----

[Tadi]

Steffi,

von 69 getesteten Hunden wurden

19 als "erkrankt" durch den Test bestätigt (wurde von den Besitzern auch so angegeben)

28 freie und

22 Träger

Ich denke und hoffe, dass diese Verteilung auch auf größeren Zahlen repräsentativ bleibt, denn die hohe Zahl der "freien" ist wundervoll und überrascht einige, wohingegen andere von solch positiven Ergebnissen ausgegangen sind.

LG
Zori

[Bulli-Mama]

Tadi vielen Dank!
Die letzte Mail ist so zu verstehen das der Test nicht nur für den Mini gut ist sondern für die anderen Rassen die von PLL betroffen sind auch?

[Sabine]

Mir fällt ein richtiger Felsbrocken vom Herzen ...

Weiß jemand, ob wir die Ergebnisse mitgeteilt bekommen? Für mich wäre es schon wichtig, so bald wie möglich zu erfahren, was nun ist.