Re: Re: Genetic databank idea

[Guest guest]

NORD - http://www.rarediseases.org/

Barb

in Texas - Son Ken

(30) UC 91 & PSC 99

-----Original Message-----

From: Stefan Holubar what is NORD

[Guest guest]

Thanks Barb. They are on my list.

Lee

> NORD - http://www.rarediseases.org/

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> Barb in Texas - Son Ken (30) UC 91 & PSC 99

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> -----Original Message-----

> From: Stefan Holubar what is NORD

>

[Guest guest]

Dear Stef, I'm working on it. I have contacted and left a message with

the genetic alliance to see if they can guide us in getting into the

bio bank. Barb just sent the site for NORD, the national organization

of rare diseases. I will see what I find out from the genetic alliance

first.

Lee

We will let everyone know when we have a firm time and place.

>

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> Lee,

> Sounds good. When is the conference? And what is NORD and the genetic

> alliance? There certainly are huge issues such as collection,

> confidentiality/privacy, storage, access but the above groups might

> be able to handle it.

> -Stef

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[Guest guest]

Dear Dave,

Thanks for the information. I am still contacting the genetic alliance

to find out more about this because maybe it will be something our

foundation could sponsor even if it isn't possible to do at a

conference. I'll let you know what I find out. They did tell me that

they are working on a bio-bank.

Lee

>

>

> Dear All;

>

> Sorry I was not " on-line " today, and was unable to join in on the

> interesting discussions about genetic testing. Although I am all in

> favor of this, I think this will depend greatly on a consortium

> [perhaps international?] of PSC researchers getting together who get

> grant funding from NIH (or other granting agencies) to study this

> important topic. They will probably have to submit grant proposals to

> NIH (or other agencies) spelling out all of the genes they would be

> looking for, and why, how they would collect samples from a

> clinically well-defined pool of patients, how many patients would be

> involved to make the studies statistically significant, how

> many " control " patients would also be involved [i.e. typically in any

> genetic study one needs to compare samples from the patients with the

> disease and those without the disease], how they would store and

> share the samples, how the samples will be analyzed, how the data

> would be analyzed, how much it would cost in terms of personnel and

> equipment/supplies etc. They would also have to complete and submit a

> large number of forms concerning procedures to be used to protect the

> health of the patients, and the privacy of the patients involved.

> This would all then have to be reviewed by a grant review panel, and

> only once approved by a grant panel could the research go ahead. So,

> in a nutshell, I don't think we'd be able to donate samples at a

> conference this spring, unless this was part of a government agency

> funded project that had gone through these grant application

> procedures and had received approval and funding.

>

> I guess my commentary about genetic testing sparked this lively

> discussion. I am sorry to now throw flame retardant on these sparks.

> My note about how so few members of the group had participated in

> research studies on the genetics was not well explained. For this I

> apologize. What I should have added was that there would seem to be a

> need for PSC researchers to pool their resources (and willing

> patients) to develop a co-ordinated plan to get at the genetic basis

> of the disease. [if PSC researchers had already been successful in

> this endeavor, then perhaps more PSCers would have answered " Yes " to

> the genetic testing poll?] I think that genetic testing has to

> be " investigator " driven, and well-funded, and regrettably can't

> be " patient " driven because of all the ethical and privacy issues

> involved.

>

> Best regards,

>

> Dave

> (father of (19); PSC 07/03; UC 08/03)

>