"The riddles of God are more satisfying than the solutions of man." Chesterton






Wednesday, December 20, 2006

Some of my friends are egg-heads.

You gotta love an egg-head. I know one who is a smarty-pants, but is also witty and opinionated and also a domestic goddess. How can you not like someone like that. She is a scientist who traded in her centrifuge for a central vac, her petrie dishes for pie plates. When you meet someone with that kind of background you get a wonderful combination of SAHM shop talk and some some really great nuggets of information that let your mind take a big trip out of it's usual hang-out. I need broad thinkers in my life, especially ones that get your mind ruminating about the world on a molecular level.

Here is something she whipped up today (maybe along with some Christmas baking):

Discussing the “magic wand” or the “cure” for Down
syndrome is futile. We must first determine the cause. Many people who post on these threads are using the terms gene and chromosome interchangeably and it appears to me that they think science should approach Down syndrome as a genetic disease. Down syndrome is not a genetic disease. It is a phenotype. At this point these are the only facts we have: trisomy-21 is often compatible with life and results in a phenotype that is commonly referred to as Down syndrome. That’s
all we know. The rest is theory. The most common theory is that the phenotype and the pathophysiologies that are common to the phenotype are caused by an overproduction of the proteins that are coded for in genes on chromosome 21. No one knows what proteins, no one knows what genes. And again this is only a theory. It is more likely that the key to uncovering the mysteries of a chromosomal disorder lies not at the genetic level but at the chromosomal level. We cannot explain why trisomy-21 occurs. We can explain how it occurs. We have
some statistically significant data indicating that there is an increased
incidence of trisomy-21 in babies born to women over the age of 35. That’s all we know. Why is trisomy-21 often compatible with life? The survival rate for other trisomies is much lower than that of t-21. Does Mother Nature know what she’s doing? Could the Dalai Lama be right? Should we leave well enough alone? Are our children’s genetic contributions to humanity laying the ground work for
favorable evolutionary developments in the future?

4 comments:

Anonymous said...

Whoosh......that is the sound of your friend's information racing right over my sleep deprived head.

I did just read an article concerning the App gene. This is the gene that is associated with early onset Alzheimer's disease, and how it can perhaps be turned down.

Regardless of the how's and why's we jsut consider ourselves exceeding lucky to have Parker.

jennifergg said...

This is an excellent post! I just started blogging, a place called Pinwheels, and I'd like to link to your site, if that's okay?

It's at:
http://jennifergrafgroneberg.wordpress.com/

Thank you for sharing your beautiful family!

Anonymous said...

Happy New Year to you and your family from us across the pond.

Kelly said...

Thanks Tammy and Jennifer. Yes, you are welcome to link to here! Jennifer, I have enjoyed your web page too!