By combining the modern tools of gene sequencing and social media, a global team of researchers has confirmed the identification of a new genetic disorder that causes severe impairments in children.
The new disease, called NGLY1 deficiency, is reported online in the March 20 issue of Genetics in Medicine, the journal of the American College of Genetics and Genomics. The study describes the disease in eight patients, confirming the work of Durham, N.C.-based Duke Medicine scientists who originally identified the genetic mutation in a single young patient in 2012.
Children with the genetic mutation have a distinctive inability to produce tears when they cry, but also have movement disorders, developmental delays and liver problems. The genetic defect is so rare that without social media, the eight affected children would in all likelihood have remained unknown to each other and to scientists, but instead were connected within months.
After we got the original diagnosis, we worked really hard to find additional cases to confirm that we got it right, said senior author David Goldstein, director of the Center for Human Genome Variation at Duke. While we were working hard but making slow progress, the original family was writing about their experience and connecting with others on social media. They were able to find several more potential patients to be tested. This experience really brought home to all of us just how important family engagement is to this work and how important it is to think hard and long about every patients genome.
Duke researchers and colleagues across two continents worked to sequence the entire genomes and exomes of the individual patients, revealing the newly identified genetic defect that was shared among them.
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