Lafora Screening update

Post date: Dec 18, 2011 4:33:53 PM

Centogene have now completed their investigative work to understand the technical difficulties in differentiating Clear from Carrier results. They have confirmed that the quality of DNA available in the cheek swab samples is not an issue in carrying out a successful test. However, they believe that the quantity of DNA available is relatively low. As a consequence, the low proportion of DNA in these samples means that the presence of other proteins interferes with the separation of the Lafora Clear and Carrier components.

Centogene are now working on ways to increase the quantity of usable DNA in the samples. An alternative would be to use blood samples, but we have agreed that this is not a desirable option, at this stage (as it would mean additional expense for MWHD owners).

The current timetable is as follows:

- Centogene will complete their work on increasing the quantity of available DNA before Christmas

- The original cohort of 46 samples will be re-tested

- The additional samples (approx. 200) will be tested

- Results will be reported to the WHDC by January 16th

Most people will be aware that Nora Price (laforatesting@mypostoffice.co.uk) has been acting as Coordinator for the Lafora Screening Programme, on behalf of the Wirehaired Dachshund Club. From December 1st, she is joined by Sue Holt (Waldmeister MW), who will be helping the team with the management and analysis of results. Sue has already begun work on the identification of Carriers based on existing known “Affected” test results.

Full disclosure of the test results and details of tested dogs' Sire/Dam is a condition of consent when opting to use the WHDC's subsidised test and was also one of the requirements of the KC Charitable Trust when they made their grant to the Club. The WHDC website will have a summary of the results received from Centogene.

On behalf of the Breed Council we want to thank Nora and those helping “behind the scenes” for all their time and effort they have committed to the Lafora Programme. Sometimes, it must feel like a thankless task, particularly when they seem to get nothing but criticism. But, without them, there would be no Screening Programme at all.

We have tried to keep everyone informed of the situation through our regular Newsletters and all our updates have been reported in Breed Notes in the dog press.

Finally, a plea for help. If you know of a MWHD owner who does not receive our Newsletter, please forward it to them, or print off a copy to give to them. If they do have internet access, get them to subscribe to the Newsletter by signing-up on the Breed Council's website: http://dachshundbreedcouncil.org.uk