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#27807 - 07/12/11 02:14 PM Ichthyosis Research Database
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Several years ago, one of the researchers got a grant to create a genetic and biopsy database of a bunch of people with ichthyosis. The group of people that volunteered to be a part of that registry are largely responsible for all the work that has been done on ichthyosis - all the genes that have been found, what is happening in the skin that causes the skin to behave as it does, and some breakthroughs in treatments that weren't available 20 years ago. Unfortunately, the grant ran out and the researcher is nearing retirement, so there have not been any new people added to the registry for several years.

Last year, another researcher received a huge grant to put together an updated database. He is working on finding the individual mutations within the specific gene and tailoring research to the specific mutations. However, to do anything really useful, he needs more volunteers.

Goal: at least 500 people with any of the rare types of ichthyosis (Not vulgaris and not x-linked). He currently has 124.

What he needs: A health history questionnaire filled out and a blood sample from the affected person(s) and their parents/siblings.

What you get
: If you don't know your mutation, he'll tell you what gene it is in. (KRT-1, TGM, etc) If you know it, he'll confirm it for you.

What it costs: no cost to you. His team will contact you and your doctor to have the blood drawn, send out the supplies he needs and there's no cost for the DNA assay.

If you're interested, send me a PM with your contact information and I'll forward it to him.

J


Edited by Hearsay (07/14/11 10:49 PM)
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#27809 - 07/12/11 05:20 PM Re: Ichthyosis Research Database [Re: Hearsay]
EmberSparks Offline
Member

Registered: 03/15/09
Posts: 60
Have people who were tested at the conference in Florida started to hear back yet?
_________________________
3 year old (collodion baby/ARCI)

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#27810 - 07/12/11 05:31 PM Re: Ichthyosis Research Database [Re: EmberSparks]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I am not sure. I know he's been running the samples but he's also been working hard on getting another paper approved for publishing and just won another grant from FIRST to continue where he left off. I'll be talking to him in the next day or two and will get back to you, as he's probably out of the office by now today.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#27814 - 07/12/11 11:59 PM Re: Ichthyosis Research Database [Re: Hearsay]
dslacker Offline
Member

Registered: 08/26/00
Posts: 61
Loc: Copenhagen - Denmark - Europe
If the researcher contacts Anders Vahlquist, Agneta Gånemo and Marie Virtanen at the Department of Medical Sciences, Section of Dermatology, Uppsala University, Uppsala, Sweden, he can get acces to a database with those informations collected from all of Scandinavia. I think there are more than 100 with biopsies and interviews...
_________________________
The Danish Slacker
-------------------------
dslacker@trustme.dk
"Have you got the will to be weird"
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#27815 - 07/13/11 12:15 PM Re: Ichthyosis Research Database [Re: dslacker]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Wonderful news, D! I will make sure he knows about it, although I'd be shocked if he didn't have those connections already.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#27820 - 07/15/11 09:25 PM Re: Ichthyosis Research Database [Re: EmberSparks]
MonkeyMama Offline
Member

Registered: 04/16/10
Posts: 44
Loc: Georgia
Originally Posted By: EmberSparks
Have people who were tested at the conference in Florida started to hear back yet?


We saw Dr. Choate in June and he's still working on Cate's information. He has eliminated some mutations that it is not, but hasn't isolated which one it is.
_________________________
Sam
Mama to Cate (1/30/08), our little monkey.
Collodian Baby/Lamellar Ichthyosis

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#28246 - 02/03/12 04:35 AM Re: Ichthyosis Research Database [Re: Hearsay]
willip Offline
Member

Registered: 04/28/11
Posts: 6
If this was in the uk I'm sure my OH would love to be in the study!
There was a study done in orkney a few years ago based on palmoplantar EHKs suferers, that I think was to do with isolating genetic problems in general.
Being an isolated location many genetic studies have been studied here (and no we are not all interbred and marrying our cousins! lol)

It might be of interest for the ones doing this study/database ?

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#28773 - 01/26/13 02:14 PM Re: Ichthyosis Research Database [Re: Hearsay]
Niser23 Offline
New member

Registered: 01/26/13
Posts: 1
Not sure but I possibly as a child was part of the first data base and would for sure be part of any research that would help.
New to this so don't know how to do everything yet, like private messages or anything but would for sure be interested. I have Lamellar Ichthyosis.

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#28777 - 01/28/13 04:25 PM Re: Ichthyosis Research Database [Re: Hearsay]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Do you have a genetic diagnosis or is it still unknown? The researcher is looking for people who have not had their gene identified yet, or have tried and were unsuccessful in finding it. If you click on my username, it will give you the option of "send a PM"
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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