Saturday, April 21, 2007

From the IOM: an N of 1; Ep 31



For quicktime format click here


running time = 6m 21s

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63 Comments:

At 4/22/2007 9:52 PM, Blogger María Luján said...

Hi Bart
Congratulations for your clear english , I could understand almost everything.
I have had always the intuition that the path of the study of the genetic expression in terms of levels of certain proteins and the impact of environment- more than the full sequencing would be more fruitful in terms of understanding. One aspect to consider- beyond the full sequencing is the epigenetics, that can alter in several ways the expression and this means many levels of environment effect.
Therefore I wonder, considering your presentation Dont you think that we would have more fruitful paths in research than the full genome sequencing in autism- Considering high level of tech and highest standards of science- in terms of metabolism, physiology and biochemistry in autism considering the detection of different subgroups?

 
At 4/22/2007 10:09 PM, Blogger Bartholomew Cubbins said...

Hi Maria, Genome sequencing is the ultimate in quantitation. There is no guesswork, there is no interpretation. And I think that these experiments are too easy to ignore.

Of course you're right about epigenetics - it's probably going to impact more heredity than we can imagine at this point, but it's a harder question to answer.

There are high throughput DNA methylation tests and I advocate these as well, but one has to start somewhere and I think this is the best place.

 
At 4/22/2007 11:49 PM, Blogger Steve D said...

Very enlightening. Those of us who are on your side, but are also non-biologist/geneticist/scientists really appreciate these well-encapsulated presentations.
Keep up the good work, BC.

 
At 4/24/2007 7:14 AM, Blogger Kathleen Seidel said...

BC, I think this is one of your best yet -- very understandable, with clean audio and uncomplicated visuals. And that straightforward estimate of what it would cost to do this particular job right -- it's a great message to the funding folks to JFDI.

 
At 4/25/2007 4:16 AM, Blogger Kevin said...

Fascinating. I love your blog mate, I truly learn something every time I visit. Thank you.

 
At 5/07/2007 4:03 PM, Blogger Liz said...

Hi Bart -- this is somewhat of a comment hijack.

It's Liz from I Speak of Dreams.

Alpha Blogger Robert Scoble is promoting the idea that mercury/vaccinations are implicated in autism. Can you help rebut?

First post

http://scobleizer.com/2007/05/04/my-parental-heroes/
May 4, 2007
My Parental Heroes

Today I was interviewing Sridhar Vembu, CEO of Zoho

[snip]

2) He [2) He personally believes that something about the vaccinations that we’re giving our kids triggers it, or plays a role. He understands that this is a controversial belief, but he says he noticed a major regression after his son had three vaccinations in one day.
3) Some kids do see improvement. He’s working with doctors around the world and said he’s seen a huge improvement in his son’s case with changes in diet and other treatments.] personally believes that something about the vaccinations that we’re giving our kids triggers it, or plays a role. He understands that this is a controversial belief, but he says he noticed a major regression after his son had three vaccinations in one day.
3) Some kids do see improvement. He’s working with doctors around the world and said he’s seen a huge improvement in his son’s case with changes in diet and other treatments.

[snip]


Second post

http://scobleizer.com/2007/05/07/followup-to-my-autism-post/

Followup to my Autism post

Zoli Erdos follows up my Autism post with a lengthy, thoughtful, and well-researched post. Thanks Zoli for doing that.

Zoli's post

http://www.zoliblog.com/blog/_archives/2007/5/6/2930024.html

[snip]
Chelation, and mercury-contamination as primary cause are highly controversial - however, some parents clearly feel they don't have other choices left. If treatment can be be successful at all, it has better chances at early stages, so they feel they don't have the luxury of waiting for the medical establishment to clear the way. (Talk about "luxury", not all families can afford these treatments, some costing $50K and more).

The Scoble article sparked a heated debate amongst commenters - mostly parents of kids with autism. The dispute around the merits of biomedical treatments, vaccination as a cause are not surprising - but I am seeing another battle-line drawn, between those who are seeking to cure autism, and those who reject a "cure", since autism is not a disease, not a developmental disorder... it's just the way some people are, and that's all right.
[snip]

'm struggling to put this into words, as I don't want to hurt anyone's feelings, but the point I'm trying to make is this: while it's everyone's right to select their approach to autism, and for many acceptance is the right one, denial does not help - after all, if you could eradicate autism overnight, you'd probably do it, so let other people pursue this option... they are not doing it to hurt you.
[snip]

I know it is like whack-a-mole, but Scoble is sufficiently promenent that this does deserve some response.

 
At 5/16/2007 10:04 PM, Blogger laurentius rex said...

Thats what you think,

Occam and his razor indeed, but nothing but nothing is so simple in the real universe,

Quantition indeed when even the concept of number is indeterminate in anything but an appreciation of human and higher animal cognition.

It is only real because you think so, but you cannot concieve of the mechanisms that make you think so, as it is outside the box and not factored into the equation

 
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I really like the information you supplied, because my daughters are very unique and feel it is important look at a variety points of view. With my autistic daughter who is unique, which I can also prove due the genetic test I completed based on the book "Genetic ByPass" and of course Amy Yasko. Her mutation are in the Mae A, VDR and SUOX of the Methylation Pathways and we completed RNA Metals 1, 2, 3 and 4. The great news of all is she has increase language and her behavior is changing. So I know you are not a fan of RNA in the bottle, but it has changed my daughter (Nineteen years old and completely disabled) and she is improving. Keep publishing, because it is important that we do not see autism as all one, but the possibility of uniqueness among an umbrella group label that is termed autisms.

 
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I really like the information you supplied, because my daughters are unique and feel it is important look at a variety points of view. With my autistic daughter who is unique, which I can also prove due the genetic test I completed based on the book "Genetic ByPass" and of course Amy Yasko. Her mutation are in the Mae A, VDR and SUOX of the Methylation Pathways and we completed RNA Metals 1, 2, 3 and 4. The great news of all is she has increase language and her behavior is changing. So I know you are not a fan of RNA in the bottle but it has changed my daughter and she is improving. Keep publishing, because it is important that we do not see autism as all one, but the possibility of uniqueness among an umbrella group label that is termed autisms.

 
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