Monday, December 28, 2015

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.…/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.

Friday, December 25, 2015

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?