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Scientists Sort Through 'Junk' to Unravel a Genetic Mystery
NY Times ^ | February 7, 2006 | ELIZABETH SVOBODA

Posted on 02/06/2006 8:47:48 PM PST by neverdem

In 1965, when her 10-month-old son, David, started having seizures, Joan Stokes's excitement at being a first-time mother gave way to terror.

"I couldn't imagine what was wrong," she said.

The pediatrician was equally baffled. David's condition was not a result of a bacterial infection — it failed to respond to antibiotics — and tests for an array of common genetic disorders came back negative.

It was not until Ms. Stokes began discussing David's illness with her mother, her cousins and other relatives that she realized she belonged to a seemingly cursed lineage.

"I had a brother that died in infancy who I knew nothing about," Ms. Stokes said, "and my mother told me, 'Oh, your brother had the same thing.' "

Other long-hidden stories of baby boys shaking uncontrollably and then dying began to surface — a cousin here, a great-uncle there — and it became clear that the family's ill-fated heritage stretched back to the 19th century.

David, though, clung to life, and a further round of testing revealed that he had low levels of parathyroid hormone.

Suspecting there was a problem with the parathyroid glands, small glands in the neck that ordinarily regulate calcium metabolism, doctors at St. Louis Children's Hospital gave David high doses of vitamin D to raise his blood calcium to normal levels.

The results were immediate and startling: David's seizures stopped, and unlike many of his male forebears, he grew and thrived, coasting through childhood without significant developmental delays.

A second afflicted son, born two years later, did similarly well on the vitamin D treatment.

Still, the genetic cause of the boys' rare disorder, known as X-linked recessive hypoparathyroidism, remained a conundrum. Michael Whyte of Washington University, one of the Stokes children's doctors, was determined to locate the chromosomal source of the illness.

(Excerpt) Read more at nytimes.com ...


TOPICS: Culture/Society; News/Current Events; US: Missouri
KEYWORDS: genetics; health; heredity; hypoparathyroidism; medicine

1 posted on 02/06/2006 8:47:51 PM PST by neverdem
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To: martin_fierro

Ping?


2 posted on 02/06/2006 8:53:10 PM PST by CobaltBlue (Extremism in the defense of liberty is no vice. Moderation in the pursuit of justice is no virtue.)
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To: El Gato; JudyB1938; Ernest_at_the_Beach; Robert A. Cook, PE; lepton; LadyDoc; jb6; tiamat; PGalt; ..
IAS: Index Patient for New York's Aggressive HIV Strain Is Identified

Rare Chlamydia Strain Infecting Gay Men

FReepmail me if you want on or off my health and science ping list.

3 posted on 02/06/2006 8:54:41 PM PST by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: neverdem

If you find this thread interesting you may enjoy "folding" with some FReepers. WATCH THIS

http://short-media.com/files/thraxfoldingflash/

Then join us here!

http://www.freerepublic.com/focus/f-chat/1572512/posts


4 posted on 02/06/2006 8:56:23 PM PST by Drango (A liberal's compassion is limited only by the size of someone else's wallet.)
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To: neverdem

To read the whole story without subcribing then just follow this link and then click on the headline in google.

http://www.google.com/search?hl=en&q=Scientists+Sort+Through+%27Junk%27+to+Unravel+a+Genetic+Mystery&btnG=Google+Search


5 posted on 02/06/2006 9:01:40 PM PST by Revel
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To: caryatid; CobaltBlue; Emmalein; Jessarah; Ol' Sox; Old Student; Pharmboy; RikaStrom; ...
Thanks for the meta-ping, CB!

Genetic
Genealogy
Send FReepmail if you want on/off GGP list
Marty = Paternal Haplogroup O(2?) (M175)
GG LINKS:
African Ancestry
DNAPrint Genomics
FamilyTree DNA
mitosearch
Nat'l Geographic Genographic Project
Oxford Ancestors
RelativeGenetics
Sorenson Molecular Genealogy Foundation
Trace Genetics
ybase
ysearch
The List of Ping Lists

6 posted on 02/06/2006 9:05:55 PM PST by martin_fierro (< |:)~)
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To: neverdem

I am waiting for daveloneranger and other FR creationists to tell us that this is "junk science" that violates Genesis.

Six posts later we will see that evolution is associated with nazis, stalin, communism, moral decay, dental decay, liberals, and the decline of western civilization.


7 posted on 02/06/2006 9:52:14 PM PST by thomaswest (Labeling: My religion is the one true faith; yours is a cult.)
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To: neverdem
There they go again, thwarting natural selection ;-)
8 posted on 02/06/2006 9:54:07 PM PST by RobbyS ( CHIRHO)
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To: thomaswest

Do you know that the basic meaning of evolution is the same as development?


9 posted on 02/06/2006 9:58:07 PM PST by RobbyS ( CHIRHO)
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To: neverdem
The term "junk" could be applied to much of the science today. If the scientific community cannot understand it, it must be junk. Hmmmmmmm.
10 posted on 02/06/2006 10:03:51 PM PST by Fielding (Sans Dieu Rien)
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To: neverdem
"Eugenics" is a dirty word. But the fact is that because we discover relatively simple treatments for genetic disorders that killed in the past means that our future generations will be plagued with genetic problems. It may be that our great-great-great grandchildren have to take many pills a day, like our grandmothers now do, just to stay alive.

So what to do?

Eventually, we'll have to recognize that we must do some level of gene therapy, otherwise the human race will not be able to live without constant medicine.

It does risk abuse, but I think the only method is to allow parents the ability to chose which genetic pattern their child will have. Yes, some will scream for moral reasons, and others in paranoia about Nazi past atrocities. But what choice do we have? We either accept that modern medicine will evolve humans that depend on constant medical attention. Or we go to the next level of evolution, and chose our children's genes.

Take your pick.

11 posted on 02/06/2006 10:12:54 PM PST by narby (Hillary! The Wicked Witch of the Left)
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To: thomaswest
I am waiting for daveloneranger and other FR creationists to tell us that this is "junk science" that violates Genesis.

Grow up.

Sincerely,

a 4th year post-doc in molecular neurobiology
12 posted on 02/06/2006 10:13:51 PM PST by aruanan
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To: metmom

Read later bookmark.


13 posted on 02/06/2006 10:38:22 PM PST by metmom (Welfare was never meant to be a career choice.)
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To: neverdem

btt


14 posted on 02/06/2006 11:46:14 PM PST by Marie (Support the Troops. Slap a hippy.)
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To: thomaswest
This is good science completely consistent with Genesis, except for the part where they labeled some DNA "junk" when the full functionality of DNA is not understood yet.

This science doesn't support evolution at all. It supports devolution. This is another harmful mutation resulting in deformed and malfunctioning glands. Where are the beneficial mutations?

Oh that's right, Sickle Cell Anemia which by crippling half the red blood cells makes a person less susceptible to blood born diseases. Nice one. It's like saying a child born without arms is immune to carpal tunnel syndrome.

And this science doesn't depend on Evolution in any way. You don't have to assume man came from apes to scientifically diagnose this. Look at what they did. They ruled out bacteria. Found a trend in the family indicating genetics but not evolution. Found a specific deficiency and began aggressively treating the deficiency. <

"Six posts later we will see that evolution is associated with nazis, stalin, communism, moral decay, dental decay, liberals, and the decline of western civilization. "

If you say so.

15 posted on 02/07/2006 12:45:52 AM PST by DannyTN
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To: thomaswest
I am waiting for daveloneranger and other FR creationists to tell us that this is "junk science" that violates Genesis. Six posts later we will see that evolution is associated with nazis, stalin, communism, moral decay, dental decay, liberals, and the decline of western civilization.

It is sad when they do this. They live in their own little minds and then refuse to open them for fear they might have to admit they were wrong.

16 posted on 02/07/2006 7:17:05 AM PST by Emmalein (Try not to let your mind wander...It is too small and fragile to be out by itself.)
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