A New Genetic Disorder Has Been Discovered, And 'NGLY1 Deficiency' Sufferers Are Literally Unable To Cry
On Thursday, the journal Genetics in Medicine published a groundbreaking study that identified a new genetic disorder: NGLY-1 deficiency. Those afflicted are missing the enzyme N-glycanase 1, which regulates the body's cells, and makes it possible to "recycle" defective cells. Without it, people often exhibit liver damage, abnormal movements, and — the most unusual effect of all — an inability to cry tears.
The researchers wrote their paper based on eight children with very similar cases. Before they made the discovery, nobody knew what the children were suffering from. Four-year-old Grace Wilsey, for example, grew up with impaired motor development, was often unable to move around, and suffered hypotonia, a condition which entails reduced muscle strength. Worst of all, her liver was abnormally damaged.
So how did the researchers discover these eight children and put together enough evidence for an entirely unknown disease? Social media, it turns out, helped a great deal. Matthew Bainbridge, a close friend of Grace's parents who worked at Baylor University's Human Genome Sequencing Center, came upon a blog written by Matt Might, a University of Utah professor whose son Bertrand suffered from similar symptoms as Grace. Duke University scientists had already used gene sequencing to determine Bertrand's gene mutations.
Bainbridge reached out to Might, and eventually the Wilseys came in contact with the scientists for Might's son. Eventually, the reason behind Grace and Bertrand's symptoms was discovered — as well as the symptoms of six other children whom the researcher team discovered via social media.
Once the scientists — who came from Stanford, Baylor, Duke and Emory, to name a few — had the eight children, they conducted biochemical testing, determining they all had mutations on the NGLY1 enzyme.
There's still work to be done, as the study's lead author Gregory Enns had to say, according to a press release by Stanford Medical School: "We don’t know how NGLY1 deficiency is causing the neurological findings seen in the children we’re treating. Once the gene defect is found, that’s when the work really begins."
That said, the fact that Grace and the other children now have a diagnosis has certainly brought a great deal of relief to families.
“With a diagnosis, we can start working on a cure or a way to alleviate some of Grace’s symptoms,” Kristen Wilsey said in the Stanford press release. “It’s hard to describe that feeling. When we got the news, we were so excited that neither of us could sleep."