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Author Topic:   Genetic Research Update
Glori
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Posts: 259
From:Elk Rapids, Michigan
Registered: Aug 2000

posted November 17, 2002 10:59 AM     Click Here to See the Profile for Glori   Click Here to Email Glori     Edit/Delete Message   Reply w/Quote
I received an email regarding Gene Therapy and thought I would post an update to what's going on in the world of science.
Unfortunately, there was yet another death involved with a patient receiving gene therapy for a rare disease (not ichthyosis) and that has halted quite a bit of research. Last year, as some may recall, there was a rash of deaths in patients receiving gene therapy for various diseases and many of these deaths were "covered up" so to speak, by the research facilities monitoring them. When the actual number of deaths came to light, most of these research projects were all but shut down by the Federal Government, probably rightfully so.
Not long ago I received this message:
As of September 13th, 2002, the Institute of Human Gene Therapy (IHGT) web site has been permenantly removed. No forwarding or contact information exists at this time.
This was a project run by the University of Pennsylvania that was shut down after the death of a 19 year-old man. His death was directly related to the experimental therapy he was involved in.
Most gene therapy research has been reduced to severe autoimmune diseases that would otherwise cause death. It has become so difficult to get approval for research that most facilities realize that they have to be working on something frightening enough to get private funding and public approval.
An excellent article that shows the good, the bad and the ugly of gene therapy can be found here: http://www.fda.gov/fdac/features/2000/500_gene.html
The next link should be read after the above noted article to give you a better idea of why gene therapy is being so harshly treated and how and why it can go so wrong: http://www.fda.gov/foi/nooh/Wilson.htm
Several of you may have read an article posted by AdamsDad regarding successful gene therapy for Ichthyosis at Stanford University. According to an article by FIRST, Stanford has been unable to maintain the great skin results for more than a few weeks, so no one knows yet whether or not this research will ever help us.
Here is the most recent article from FIRST regarding the research at Stanford: http://www.scalyskin.org/content.cfm?ContentID=139&ColumnID=4
I found an article that really annoyed me that said some guy cured his Ichthyosis with self-hypnosis and refers to it as "Elephant Man's disease". http://www.bapera.com.br/revista/artigos_inter/gene_regulation.htm
If you want to support gene therapy research, the obvious places to pressure are the National Institute of Health and the FDA. These are the two main groups that control the current research and are also responsible for it's demise.
Personally, based on my own research, I am waiting for stem cell therapy. I think it will be more beneficial and less harmful to everyone, and I think the results will be long-lasting. In fact, this appears to be the focus of Stanford's latest batch of research, most likely because they have been unable to maintain good results with gene therapy. Once again, though, we have a quandry. Stem Cell research has been so controversial that it would be years and years before it would be allowed to be actively pursued as treatment, especially for something that people regard as a "skin problem".
To support Stem Cell Research, go here: http://www.stemcellfunding.org/fastaction/
to gain better understanding of Stem Cell Research, read this: http://www.aaas.org/spp/cstc/issues/stemcells.htm
I suppose all of this boils down to the fact that most people care about scary things like cancer and AIDS, and less about what appears to be an annoying skin problem. Most research is not geared towards us. Stem Cell therapy excites me more because the results are so immediate, doctors know almost immediately whether it will work or not and the research is moving faster in clinical terms (MUCH faster than gene therapy), but slower in terms of public and government approval.
So, any questions? Discussion? Debate?

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Keith Charsha
Member

Posts: 466
From:Southern California U.S.A.
Registered: Aug 2000

posted November 17, 2002 11:48 AM     Click Here to See the Profile for Keith Charsha   Click Here to Email Keith Charsha     Edit/Delete Message   Reply w/Quote
Glori,
I have a question, for anyone who remembers or still has the stanford website. I read the first article on gene therapy that you had posted, http://www.scalyskin.org/content.cfm?ContentID=139&ColumnID=4
I remember reading the Stanford article and it being about research on Epidermalysis Bullousa, the form of Ichthyosis where the skin blisters and peels and has no ability to "cling" to the body. The FIRST article indicated that the study was done on Lameller Ichthyosis. Is this a mistake or is it two different studies??? I also remember them saying that the skin grafts(for lack of a better word) had taken hold and were lasting for what seemed to be indefinently, more then 3 weeks anyway. Can anyone help clear this up, if so let me know, for now I'll try to find Adam's dads post when I get some free time.
Keith.

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KatieCakes
Member

Posts: 117
From:Boston & South Attleboro, MA, USA
Registered: May 2002

posted November 17, 2002 10:30 PM     Click Here to See the Profile for KatieCakes   Click Here to Email KatieCakes     Edit/Delete Message   Reply w/Quote
Hi Keith, I don't know if this will help but I think she was talking about a different article because Epidermalysis Bullousa, or EB is not a form of ichthyosis. Epidermolytic Hyperkeratosis is and if I'm not mistaken that is the kind of ichthyosis you have. EB is as you described it but I'm almost positive it is not a type of ichthyosis so it is very possible there was research done on both disorders. I attend teen camp with many teens with EB and none of them have ever mentioned it having to do with ichthyosis..they could barely pronouce it when I told them what I had. As a sidenote...we are very lucky bc in the most common forms of EB the disorder can be fatal because the blisters are prone to infection and it then the infections spread quickly. Most of the EB teens at camp are in wheelchairs and are heavily bandaged to keep from getting infected. When I see how strong they are, I feel like anything I deal with with my ichthyosis is something I can handle..because if they can handle the pain of the blisters in the face of death in some circumstances then I can handle anything.
Katie
PS. Sorry to go off on a tangent about EB..I miss camp alot..beware to never ask me about it or I'll go on for hours...hehe.

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Keith Charsha
Member

Posts: 466
From:Southern California U.S.A.
Registered: Aug 2000

posted November 18, 2002 12:36 PM     Click Here to See the Profile for Keith Charsha   Click Here to Email Keith Charsha     Edit/Delete Message   Reply w/Quote
Well,
After finding the post by Adams dad I went back to the Stanford site. The link no longer exists taking you right to the article on human gene therapy. I searched the entire site for about an hour and finally found several article "titles" about gene therapy involving epidermalysis bullousa, lameller and X-linked. For some reason I couldn't read the entire publication on these, just the titles of the experiments. I suppose you can get a hard copy of their research by contacting the webmaster at the genetics department. The last time I was at this site the only publication was on EB, I would have liked to be able to read the other experiments as well.
Keith.

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pauline5
Member

Posts: 836
From:Melbourne, Australia
Registered: Jan 2002

posted November 18, 2002 08:31 PM     Click Here to See the Profile for pauline5   Click Here to Email pauline5     Edit/Delete Message   Reply w/Quote
Hi Katie,

yes, you are right, EB is not a type of Ichthyosis, however, I did read somewhere that it did have similar genetic deficencies (if that is the right word for it) to EHK, because of the blistering component, and the extreme sensitivity of the skin, and thinning of the skin.

I knew a girl at my school who had EB, and yes, it is a terrible condition, much worse than any of us...I met up with her after almost 15 years, and she was in her mid 20s and was in hospital having skin grafts on her lower leg, because it had ulcerated, and it ended up being a malignant cancer, and she died 6 months later.....so that is the main difference between EHK and EB, as our blisters cannot turn cancerous, and we don't get ulcers which can turn cancerous....EB also affects the internal organs, especially the gullet ect...as the girl I knew couldn't eat solid foods, and had her food vitamised, so we should all think ourselves very lucky....

by the way she was an extremely strong willed girl, she was a qualified practising social worker....Amazing woman....

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Glori
Moderator

Posts: 259
From:Elk Rapids, Michigan
Registered: Aug 2000

posted November 19, 2002 11:40 PM     Click Here to See the Profile for Glori   Click Here to Email Glori     Edit/Delete Message   Reply w/Quote
The only study I was really referencing in my original post was the Lamellar study. All of the links I had to the original Stanford article no longer work and I also searched endlessly in their archives to find a link with no success.

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Keith Charsha
Member

Posts: 466
From:Southern California U.S.A.
Registered: Aug 2000

posted November 20, 2002 09:09 AM     Click Here to See the Profile for Keith Charsha   Click Here to Email Keith Charsha     Edit/Delete Message   Reply w/Quote
Glori,
Unfortunately I never got to read the Lameller study. The only one I read was the EB project and how the skin made from a mouse was taking hold and lasting, if I recall it had been months and the skin was still holding. I realize that all these studies are a few years old and things may have changed. I feel much better now about not being able to find the studies on the Stanford site. I'm not completely computer illiterate but hearing that someone else tried and had the same results makes me feel better.
Keith.

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Les Avakian
Moderator

Posts: 474
From:Fresno, Calif. USA 93705
Registered: Aug 2000

posted November 20, 2002 09:07 PM     Click Here to See the Profile for Les Avakian   Click Here to Email Les Avakian     Edit/Delete Message   Reply w/Quote
Hello Glori, Keith, Katie, and Pauline
I have gone back into my three year old archives of past research notes(yellow 8x11 scratch paper) and come up with some of the sites Kimberley from Toronto told me about.The first site came up www.stanford.edu/healthlink/_news/research. The second one is www.stanford.edu/group/nolan/nl-pubpapers.html.
The third is cmgm.stanford.edu/khavari/index.html
The fourth is www.stanford.edu
I have written as a heading:Cutaneous Gene Therapy by four doctors r. G.Scott Herron, Dr. Paul A. Khavari, Dr. Peter Marakavich, Dr. Warren Hoeffler.Under that I have written they have grafted a corrected form of the EB gene that lamellar is lacking.
Listed there is an email address:khavari@cmgm.stanford.edu.Maybe if the address is still active, you can write directly to him.I hope this helps.
Your central calif. ich friend,
Les

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AdamsDad
Member

Posts: 42
From:Atlanta, GA USA
Registered: Apr 2002

posted November 26, 2002 07:56 AM     Click Here to See the Profile for AdamsDad   Click Here to Email AdamsDad     Edit/Delete Message   Reply w/Quote
Keith:
The Stanford research did have to do with EB. I printed out the article so if you'd like I can mail it to you or fax it to you. While EB is technically not an "ich" the properties of the disorder and the fact that the gene was manipulated, I think, have cross-over possibilities to other forms of ich. Anyways, let me know.

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