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A Couple's Quest To Stop A Rare Disease Before It Takes One Of Them

Sonia Vallabh lost her mother to a rare brain disease in 2010, and then learned she had inherited the same genetic mutation. She and her husband, Eric Minikel, went back to school to study the family of illnesses — prion diseases — in the hope of finding a cure for Sonia.

Eric and Sonia prepare materials for an experiment measuring prion protein in spinal fluid. They're both third-year Harvard graduate students doing research at the Broad Institute in Cambridge, Mass.
June 19, 2017
In 2010, Sonia Vallabh [ https://www.broadinstitute.org/bios/sonia-vallabh ] watched her mom, Kamni Vallabh, die in a really horrible way.
First, her mom's memory started to go, then she lost the ability to reason. Sonia says it was like watching someone get unplugged from the world. By the end, it was as if she was stuck between being awake and asleep. She was confused and uncomfortable all the time.
"Even when awake, was she fully or was she really? And when asleep, was she really asleep?" says Sonia.
The smart, warm, artistic Kamni – just 51 years old — was disappearing into profound dementia.
"I think until you've seen it, it's hard to actually imagine what it is for a person to be alive and their body is moving around, but their brain is not there anymore," says Eric Minikel [ https://www.broadinstitute.org/bios/eric-minikel ], Sonia's husband.
In less than a year, Sonia's mom died.
An autopsy showed Kamni had died from something rare — a prion disease. Specifically, one called fatal familial insomnia [ https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia ] because in some patients it steals the ability to fall asleep.
Basically, certain molecules had started clumping together in Kamni's brain, killing her brain cells. It was all because of one tiny error in her DNA — an "A" where there was supposed to be a "G," a single typo in a manuscript of 6 billion letters.
[...]
One small success
In one way, Sonia and Eric have already stopped the disease in its tracks.
Sonia is very pregnant. She's due in July to have a daughter — a daughter without a mutation for prion disease. That's something the couple made sure of by screening embryos [ http://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/ ] after in vitro fertilization.
So, they've stopped the transmission of prion disease in Sonia's line of the family. And in a way, that's a gift from Sonia's mom, Kamni, the couple says.
"If my mom was still alive, we wouldn't know any of this and we wouldn't have had the opportunity to choose to have a mutation-negative baby," says Sonia. "But, tragically, it also means that they'll never meet."
Sonia and Eric hope that, by the time their daughter is in elementary school, Sonia will be taking an experimental drug that could keep her as healthy as she is today.
http://www.npr.org/sections/health-shots/2017/06/19/527795512/a-couples-quest-to-stop-a-rare-disease-before-it-takes-one-of-them [with embedded audio]

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