Author Topic: Genetic Research for AN?  (Read 4304 times)

marystro

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Genetic Research for AN?
« on: March 24, 2007, 10:44:44 pm »
With all the genetic researches going on for various ailments, I am curious if there is any such study for tumor like AN?  If the tumor is caused by a mutated gene, then theoretically such gene could have been replaced by healthy gene.  Obviously easier said then done  :(

It is most likely that there are not enough patients (translated to money) to have financial returns for the biotech / pharmaceutical industry.  Probably some wishful thinking on my side...

Mary
Mary
July 2006 - 22 x 18 x 20 mm
August 2006 - CK at Stanford by Dr. Chang/Dr. Soltys
February 2008 - 19 x 15 x 20 mm and stable
May 2009 - 17 x 14 x 18 mm

tony

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Re: Genetic Research for AN?
« Reply #1 on: March 25, 2007, 02:12:32 am »
Yes the NF2 version of the condition is about 50% inherited
and there are suggestions that gene replacement therapy
maybe a solution
(where the condition is known - but no tumours formed)
The convential AN is not thought to be genetic (at the moment)
but at one time NF1 and NF2 were called the same thing
- they know better now..
ANs are not usually passed down through the generations
yet there do seem to be some improbable and unexplained clusters
around given families/age groups etc
The final caveat is that many folk pass to another world,
gracefully in their sleep, without ever knowing they had an AN
Best regards
Tony

ppearl214

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Re: Genetic Research for AN?
« Reply #2 on: March 25, 2007, 08:03:47 am »
Mary,

Funny you note this as I did mention it also to my neuro oncologist (being the 2nd sibling with a brain tumor).  Setting up an appt with a genetic reasearch team is easy enough for me here in Boston if I want to follow through on it.  Both brain tumors in our family are different kinds so not sure if I'll follow through.

Phyl
"Gentlemen, I wash my hands of this weirdness", Capt Jack Sparrow - Davy Jones Locker, "Pirates of the Carribbean - At World's End"

marystro

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Re: Genetic Research for AN?
« Reply #3 on: March 25, 2007, 11:20:01 am »
Hi Bruce,

Yes, I have heard about the malfunctioned gene.  My question is more along the line of if anyone is actually engaged in active research in fixing the malfunction gene for patients that are pre-dispositioned and those already diagnosed.

May be Phyl can find out more from Boston.  There is also a large biotech community here in San Diego, more specifically, in La Jolla / Torrey Pines area, our biotech corridor including the Salks Institute (Jonas Salks invented polio vaccine here).  I should go and check it out also.  Then we can compare notes.

Mary
Mary
July 2006 - 22 x 18 x 20 mm
August 2006 - CK at Stanford by Dr. Chang/Dr. Soltys
February 2008 - 19 x 15 x 20 mm and stable
May 2009 - 17 x 14 x 18 mm

tony

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Re: Genetic Research for AN?
« Reply #4 on: March 25, 2007, 02:13:47 pm »
Sorry, I am right of the edge of my knowlege here
but I  think the US army are doing tests relating to the NF2 version
also US (medical )regards NF2 as a form cancer (UK does not-weid eh ?)
and it comes under some of the cancer research programmes
AND to for all the fellow NF2s out there....sorry for the scare...
No... NF2 is not a cancer and does not spread in the same way
the link is marginal to say the least....
best regards
tony

Sue

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Re: Genetic Research for AN?
« Reply #5 on: March 26, 2007, 12:57:03 am »
I hadn't heard about chromosome 22.....very interesting. So that chromosome is only for Schwann cells on the 8th nerve?  Very, very interesting. 

Genetics is fascinating.

Sue in Vancouver USA
PS
I found this on Wikipedia.  My mother had breast cancer.  Hmmmmmm  Not sure if that means anything at all. Just..hmmmmmmm

Diseases & disorders
The following diseases are some of those related to genes on chromosome 22:

amyotrophic lateral sclerosis
breast cancer
22q11.2 deletion syndrome
22q13 deletion syndrome or Phelan-McDermid syndrome
Li-Fraumeni syndrome
neurofibromatosis type 2
Rubinstein-Taybi syndrome
Waardenburg syndrome
Autism may be related to mutations of 22q13


« Last Edit: March 26, 2007, 01:19:09 am by Sue »
Sue in Vancouver, USA
 2 cm Left side
Diagnosed 3/13/06 GK 4-18-06
Gamma Knife Center of Oregon
My Blog, where you can read my story.


http://suecollins-blog.blogspot.com/2010/02/hello.html


The only good tumor be a dead tumor. Which it's becoming. Necrosis!
Poet Lorry-ate of Goode

tony

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Re: Genetic Research for AN?
« Reply #6 on: March 26, 2007, 12:11:29 pm »
Yes the 22 is an tumour inhibiter
in some way a control or back stop to stop body cells
growing too far too often
In NF2 (but not in all ANs by any means)
the damaged or incomplete part of 22
means that the brakes dont quite work as they should
and so tumours grow where they shouldnt
Note no relation to cancer cells
- just normal healthy cells growing too much
The real brain buster is : why the out comes are quite so
different one patient to another
The faulty gene etc seems to affect folk in different ways
Best regards
Tony

Omaschwannoma

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Re: Genetic Research for AN?
« Reply #7 on: March 26, 2007, 01:09:06 pm »
Diseases & disorders
The following diseases are some of those related to genes on chromosome 22:

amyotrophic lateral sclerosis
breast cancer
22q11.2 deletion syndrome
22q13 deletion syndrome or Phelan-McDermid syndrome
Li-Fraumeni syndrome
neurofibromatosis type 2
Rubinstein-Taybi syndrome
Waardenburg syndrome
Autism may be related to mutations of 22q13

Very interesting Sue as my mother and aunt have breast cancer and my nephew has Rubintein-Taybi syndrome--hmmmmmm.  I had AN removed in 2005.  Looked into 'disease and disorder' website, but didn't help much as they don't mention Acoustic Neuromas?  So wondering if their thinking is still along the lines of lack of chromosome 22 or not. 
1/05 Retrosigmoid 1.5cm AN left ear, SSD
2/08 Labyrinthectomy left ear 
Dr. Patrick Antonelli Shands at University of Florida, Gainesville, FL
12/09 diagnosis of semicircular canal dehiscence right ear

pearchica

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Re: Genetic Research for AN?
« Reply #8 on: March 26, 2007, 08:00:17 pm »
OH yes,  chromosome 22.. from what I remember reading ( I think it's same link that brucifer posted) the thing just stops regulating they don't know why, they just know it does.  (They being the research community).... Annie
Annie MMM MY Shwannoma (sung to the son My Sharona by the Knack-1979)
I have a TUMAH (Arnold Schwarzenegger accent) 2.4 x 2.2 x 1.9CM. CK Treatment 2/7-2/9/07, Stanford- Dr. Stephen Chang, Dr. Scott Soltys

Sue

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Re: Genetic Research for AN?
« Reply #9 on: March 27, 2007, 12:50:51 am »
So, I wonder why the tumor likes the auditory/balance nerve so much.  This must just be where the weakness is I guess.  My aunt and I were talking about this, and I wondered why the Schwann cells on a nerve anywhere else doesn't act up - excluding NF2 people, I mean.  Just sort of interesting, and perplexing. 

I looked all those other disorders up, because I'd never heard of them, except or ALS, breast cancer, autism and NF2 (which I've only learned about since getting this dumb thing) and one of those others usually affects the hearing.  Again....interesting.

Sue
Sue in Vancouver, USA
 2 cm Left side
Diagnosed 3/13/06 GK 4-18-06
Gamma Knife Center of Oregon
My Blog, where you can read my story.


http://suecollins-blog.blogspot.com/2010/02/hello.html


The only good tumor be a dead tumor. Which it's becoming. Necrosis!
Poet Lorry-ate of Goode