March 20, 2014

CNN: New Genetic Disorder Discovered

Kids who don't cry: New genetic disorder discovered

By Jacque Wilson, CNN
updated 2:53 PM EDT, Thu March 20, 2014
Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.
Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.

(CNN) -- What do you do when your baby lies limp in your arms, staring blankly into the distance while never crying?
What do you do when tests show signs of liver damage and your baby's seizures won't stop, but doctors can't tell you what's wrong or how to fix it?
Thanks to the Human Genome Project, which was completed in 2003, identifying new genetic mutations has gotten easier and cheaper. But geneticists often struggle to find patients who share these rare DNA quirks. Studying multiple patients with the same gene mutations and similar symptoms is crucial to identifying a new genetic disorder.
That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable.
The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

And they credit an "Internet blog" with bringing the patients and scientists together.

Read the FULL STORY at CNN.com

8 comments :

  1. I hope your journey can continue to help other families.

    Also, DO NOT read the CNN comments. My brain is still crawling from reading just a few. If you want to see the helpful or kind comments, have someone curate them for you. I don't understand some people sometimes.

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    1. Thanks, Jennifer! As a general rule, I never read the comments! However, I actually did read the CNN comments and didn't think they were that bad--just completely idiotic. They were a vast improvement over the comments we received at the release of "Hunting Down My Son's Killer". Those consisted of articulate, well-thought out arguments for why we should euthanize Bertrand, and careful critiques as to why we were the most irresponsible, horrible people on the planet. Much harder to blow off. Also, the CNN article hasn't gotten that much coverage, so there aren't as many comments to shift through. (We read the comments to check for leads on new patients.) When dealing with the anonymous internet user, one needs very thick skin! Otherwise, most internet users are really quite lovely. Thanks for being one of those. :)

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    2. "Don't read the comments" is a good rule for a lot of news sites, isn't it? On the other hand, it's kind of nice to see that so many people have lives so trouble-free that they think this sort of story is a great springboard for political jokes or HARHAR CRYING BABIES ARE THE WORST.

      Incidentally, Grace looks adorable in the photo!

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    3. Thanks, Marian! Yes, Grace is an absolute doll! Her parents are fantastic too. :)

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  2. Love the story, love you guys, hate the comments :) Love, Ashley

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  3. primarily feel proud of yourselves, for what you have accomplished in the last 6 years. best to all
    joan hall

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    1. Thank you, Joan! Love to you and George!

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