Real science is amazing

I just read the most amazing article in Scientific American about a clinic in Strasburg, PA that specializes in studying and treating rare genetic disorders found in Amish and Mennonite communities. The article details using real science to determine genetic defects and how in some cases, that science is used to develop specific nutritional/medical interventions to counteract and/or cure the resulting disease. 

Real science is amazing! I say "real science" to distinguish it from all the woo-woo being presented on line.  Yes, nutrition can mitigate the bad effects of disease, but there are no miracle cures.  It takes good, hard, real science to determine the problem and to develop the solution.


Unfortunately, you can't read the article without subscribing but here's a link to a shorter article written by the director of the clinic.
http://www.scientificamerican.com/…/clinic-genomics-can-im…/

Here is a brief summary of some of the original article:

“Mark” was brought to the Clinic for Special Children in Strasburg, PA.  He was “frail  and socially detached.  He lay on the floor in constant, restless motion.  His eyes roamed but did not fix, and he was unmoved by sound”.    Test results indicated that Mark suffered from a deficiency of 5,10-methylene-tetrahydrofolate reductase (MTHFR) and they discovered an error in the his MTHFR-coding genes.  MTHFR deficiency results in depriving the brain of methionine and CH3.  An over the counter compound, betaine, supplies the brain with these compounds by an alternative metabolic pathway.  They provided the betaine to Mark, monitored his blood and titrated the dosage as needed.  Mark recovered somewhat, took his first steps and began responding to light and sound, but the damage was done and he is still disabled.

The clinic developed a test for the genetic defect.  The first case they found in a newborn turned out to be Mark’s sister.  They started her treatment about 2 weeks after she was born and today she is “an accomplished student, affectionate daughter and formidable stickball player”.  The treatment costs about 60 cents per day.  It doesn’t specifically say so in the article, but the implication is this is now a standard, ongoing protocol

Another disease in the communities – GA1 – was usually misdiagnosed as multiple sclerosis and a third, known as maple syrup urine disease (MSUD) which makes the urine smell like maple syrup.  They’ve developed nutritional interventions for each of these which mitigate the health problems.

 

Fun with hot metal (For the undying 9/11 MORONIC JET FUEL ARGUMENT)

Christmas situation

About 2 o'clock this morning, Woodrow (my dog) suddenly barked, then jumped off the bed, trotted around the house and then hopped back into bed and went to sleep. I just realized that there were no presents here when I got up. Coincidence?

No-class of 1975

I graduated High School in 1975 so this year is/was the 40th anniversary.  Some recent Facebook conversations has reminded me that quite a bit of history occurred from the time I was born until the time I graduated, so I thought I'd write up some personal thoughts on those days.

October, 1957
I am born - history begins!

Sputnik is launched. The space race begins.  This is significant to me in that my high school was built as a direct response.  As I understand the story, there was a big push on to get more and more kids into what we now call STEM (science, technology, engineering and mathematics).  My High School was meant to be cutting edge in this regard, especially I think with regard to chemistry labs.  All of my math and science teachers were top notch.  I think we were a little odd in that we were the Vanguards (named after the rocket) but our mascot was a gryphon/griffin.  I'm not sure how/where the gryphon fit in to the STEM idea, unless it was a nod to the humanities to keep them happy.  I don't actually remember ever touching on this topic in any class throughout my school days.

The first US combat casualty occurs in Vietnam.

January 1959
Castro takes over in Cuba.  My mother used to say she could not understand how Castro was initially welcomed by the US and she and her friends thought he was going to wonderful and then he became our enemy.  I didn't have an answer for her at the time, but now I know it was because FREEDOM and CAPITALISM.  This is definitely not something covered in any class.

February 1959
The day the music died!   Buddy Holly, Ritchie Valens and J.P. “The Big Bopper” Richardson are killed when their chartered Beechcraft Bonanza plane crashes in Iowa a few minutes after takeoff.  Not really significant to me at the time, but their music is part of what I grew up with, their memories were significant to many musicians of my day and of course, Don McLean hates his hit song about the subject.

April 1961
Bay of Pigs invasion.  Not something I noticed, but its impact on the American zeitgeist was significant and played a big role in our subsequent misadventures in VietNam.  Again, not covered in school.

February 1962
John Glenn is the first American to orbit the Earth.  I have a vague memory of my father pulling me in to a room to watch a rocket launch, telling me it was an historic occasion.  It probably wasn't this one, but I'd like to believe it was.

October 1962
The Cuban Missile Crisis.  I was one month into Kindergarten.  Little did I know that my school career (and life) could have been over before it had even really begun.  Luckily, the X-Men were there to save the day!

November 1963
JFK assassinated.  I don't remember the actual event.  I have another vague memory of coming home from school one day and my mother watching the funeral procession on TV.

Speaking of TV - Doctor Who premieres on the BBC.  This is an event that passes unnoticed by me until sometime in the late 70s or early 80s when reruns are being shown on public TV in the US and I become addicted.

August 1964
Gulf of Tonkin incident(s).  US Navy ships may or may not have been involved with one or maybe 2 battles with North Vietnamese torpedo boats.  (My memory is hazy, but I seem to recall that at some point there were claims that the Vietnamese boats were leaving mines in the water, but there's no mention of that in the Wikipedia article.)  In any event, this gave President Johnson cover to get Congress to approve a resolution to allow escalation of the war.

May 1967
Summer of Love kicks off.  My personal opinion is that if you were not old enough to be getting high and getting laid during the Summer of Love, then you are not a baby boomer.  If you got high and got laid, I'd say you are a boomer (which means that a few of my fellow 1975 graduates could be boomers!).  If you did neither but your friends or classmates were doing both, you're a boomer.  If your parents got together during WWII and you were born in 1964, you were more than likely an accident (sorry).  You are definitely not a boomer.

Black Friday Eve (with apologies to Major Henry Livingston Jr. and/or Clement Clarke Moore)

'Twas the eve of Black Friday and all over the house
We were stuffed to the gills, even ate a mouse!
Or was that a mousse?
I'm a silly goose
Oops, my belt just broke loose
Now look at what's all over the house...

To be continued???