Re: UPD11 test - anyone had it yet?

October 5, 2005

What is UPD 11?

What are the advantages to knowing if they have a certain genetic marker?

Inga

At 03:21 PM 10/5/2005 +0100, you wrote:

>We had Maddy's 12 month appointment with Sue Holder our geneticist on

>Monday. She told me that she had heard at a genetics conference a week

>before that UPD11 was now being linked to RSS as well as UPD7. Just

>wondering if anyone has had this test already as part of a research project?

>

>Apparently her lab will be able to test Maddy, once the research is over,

>using the blood we have already supplied, if there is still considered to be

>a link, but she will check if we still want the test first.

>

>Gillian

>

>---------------------------------

>Yahoo! Messenger NEW - crystal clear PC to PC calling worldwide with

>voicemail

>

October 5, 2005

It's the equivalent of UPD7 (uniparental disomy of chromosome 7) except for that

it is chromosome 11 and not 7. UPD7 is the test that gives a positive reult for

1 in 10 RSS children.

No advantages to knowing, apart from more certainty there is a genetic cause if

the test is positive, rather than something I did wrong (I know, I know it's not

our fault - but who doesn't still ask themselves this once in a while?)

Of course, more importantly the sooner the Drs know what causes RSS, the sooner

we have a cure, so the more research the better. Genetic breakthroughs are the

most likely to get lots of Drs interested in RSS as it is such a new area.

Particularly as the genetics of RSS might hold the key to the most lucrative

discovery in medical science - the treatment that can really let people eat all

day and not put on weight, or at the very least, treatments for type 2 diabetics

(a current hot topic - probably because it's richer countries that are likely to

have epidemics of this).

Anyway I'm a scientist and I always want to know the explanation of everything!

Inga wrote: