PDA

View Full Version : Gene Testing



Graham
24th January 2014, 03:09
After several months of asking, I am finally being tested for the MND genes.

Knowing the defective gene will help me identify an effective therapy.

Progress at last from NHS!

Chrissy
24th January 2014, 10:40
Hi
I am pleased for you, hope this is the way forward for you.

Take care
Chrissy

ccvsd
24th January 2014, 11:15
Good luck.

Caroline
x

Terry
24th January 2014, 12:09
hi graham;

is this being done under nhs.

regards terry

roy
24th January 2014, 14:39
Hi Graham

Remorseless determination to succeed respect :-)

Roy

ccinjersey
24th January 2014, 15:45
Good to see you Roy :) :)

miranda
24th January 2014, 16:32
Hello Roy.

Graham
24th January 2014, 20:56
Hi,

Terry, yes, on the NHS! Everyone in the UK can get the tests starting with c9orf72. A slew of other MND genes are to be announced this year and their respective tests will follow.

Interestingly, the rabbi in the Brainstorm trial exhibited FTD with motor function deficeits which are markers for c9orf72. I expect to be negative for c9orf72.

It ain't over till the fat angels sing, Roy. Big Bob's party is still on!

Caroline Harkness
5th February 2014, 10:42
Hi,

Terry, yes, on the NHS! Everyone in the UK can get the tests starting with c9orf72. A slew of other MND genes are to be announced this year and their respective tests will follow.

Interestingly, the rabbi in the Brainstorm trial exhibited FTD with motor function deficeits which are markers for c9orf72. I expect to be negative for c9orf72.

It ain't over till the fat angels sing, Roy. Big Bob's party is still on!heya Graham

Heya Graham
What type of test do they run? Is it bloods ?
Cheers Caroline

Graham
8th February 2014, 21:55
Hi Caroline,

Yes, just bloods. For north England, samples are sent to Hallamshire, Sheffield, for analysis. Approx 2 month turnaround.

Graham
18th July 2014, 13:19
Finally got my gene test results fòr c9orf72. As expected it was negative.

I will now enquire for my next gene test. Why I must persistently ask for specific gene tests is frustrating.

I now know one gene therapy is inappropriate for me, leaving the path open for others to enter phase 1 trials for gene therapy.

john
18th July 2014, 14:10
Graham,

Have you got SOD 1 test results if there is such a thing because although it occurs with familial ALS it also occurs in others with mnd and is a likely candidate for therapy very soon.(by research standards very soon is not quite our everyday definition)

John

Graham
23rd July 2014, 20:33
Hi John,

Yes, I will ask for SOD1 gene test next. I'm pretty sure I have a gene thing going on, but not classical MND genes. My uncle who looks very much like me is suffering Primary Supránuclear Palsy. A devastating neurodegenerative disease similar to MND.

john
23rd July 2014, 22:34
Someone posted on alstdi the results of an in depth analysis of the genes of mnd patients and they say that from their work they have arrived at 20% of mnd has common genetic traits! a lot more than the 5 to 10 % reported.
I think that as genome testing becomes more refined they will find a lot more reasons why some are likely to develop mnd. I must admit I have never heard of your uncles condition.

John

Graham
12th August 2014, 18:55
Hi John,

Yes, I would suggest that genetic factors will end up being the major factor, inherently defective or susceptible to disease.

Since the announcement of the whole genome project, I have decided to participate in it, and request my neuros be given the results.

bakeit Forum