Children who are affected by a newly-discovered genetic disorder often cry without producing tears.
The new disease, dubbed NGLY1, also causes "neurologic, muscle, eye and liver problems," a Stanford School of Medicine news release reported.
The discovery of the disease was made possible with the help of a combination of modern gene sequencing techniques and old fashioned detective work.
"This represents a complete change in the way we're going about clinical medicine," said Gregory Enns, MB, ChB, associate professor of genetics in pediatrics at the Stanford University School of Medicine and co-lead author of the new paper, said in the news release.
"This is happening so quickly because of the integration of the families with the researchers, and because so many people are coming at this from so many angles," Enns said.
Children with this genetic disorder have mutations in the gene coding of N-glycanase 1. The team found children who have an abnormal NGLY1 gene do not make the N-glycanase enzyme, which helps break down incorrectly shaped proteins. The enzyme is usually found in all cells of the body, but is missing in the cases of children with this disorder. The team also found amorphous substance in the childrens' liver biopsies.
Researchers sequenced the genome of a child who was suffering from the disease and picked out several genes to investigate including NGLY1. The team found the child could moisten her eyes when trying to cry, but could not produce tears, and found other children suffering from similar ailments experienced the same phenomenon.
"We don't know how NGLY1 deficiency is causing the neurological findings seen in the children we're treating," Enns said. "Once the gene defect is found, that's when the work really begins."
Researchers are currently in the process of working to gain insight into the disorder and create a drug that could help.
"With a diagnosis, we can start working on a cure or a way to alleviate some of Grace's symptoms," Kristen Wilsey, whose three year old daughter has been diagnosed with the disease, said in the news release. "It's hard to describe that feeling. When we got the news, we were so excited that neither of us could sleep."
