A new genetic disorder was discovered in which symptoms include developmental delays, abnormal tear production, and liver disease. A paper identified NGLY1 deficiency as an inherited genetic disorder. Eight patients have been confirmed to have it, and they all share similar symptoms. The article talks mostly about the efforts of Grace Wilsey's parents to find out what was wrong with their daughter, because she refused to eat, her eyes were unfocused, and she was unnaturally lethargic. When she was older, more problems appeared: she had hypotonia, and tests showed that she had signs of liver damage. The Wilseys took their daughter to many doctors, but no one was able to find out what was wrong. Then they met Matthew Bainbridge, who was working at Baylor's Human Genome Sequencing Center. Geneticists look for any kind of unusual genetic mutation before anything else, because that's usually a sign that there are problems. Bainbridge did some digging online after narrowing down the source of Grace's problems to the NGLY1, and found a blog written by Matthew Might, an assistant professor at the University of Utah. His son had a unknown genetic disorder involving NGLY1, which includes the coding for N-glycanase 1. It usually helps break down defective proteins so the body can reuse them. His son's symptoms were very much like Grace's, but the main thing that both children had in common was their inability to cry. Bainbridge contacted him, and soon other researchers with similar cases came forward as well. The total number of patients with this disorder (found so far) has reached 14. Different treatment options are being studied as well.
I'm always interested in hearing about new scientific findings, especially in genetics. What was especially unique about this case was how people used social media to help solve this medical mystery. It's good to hear that these families can possibly have some more peace of mind, at least in knowing that there are other people with the disorder out there. I'm interested to hear what treatments are discovered, and I hope that they'll finally be able to help their kids. The Human Genome Project provides an important reference for researchers, and it was key in this investigation. Discovering which genes cause which disorders is important because it provides us with an even better map of our DNA. In the future, it is likely that we'll have mapped out what each gene combination and mutation does, so that we'll be able to treat basically any genetic disorder.
http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/index.html?hpt=us_c2
Its always very interesting to hear of a new disorder being found. However sometimes i really do wonder if some are made up. Not specifically this one only however, by telling someone they have a disorder they'll believe it. Sometimes i believe society creates more problems while trying to fix it
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