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Human Genome Project Identifies New Genetic Disorder

CNN News reports on a newly identified genetic disorder identified by the Human Genome Project that is responsible for symptoms such as lack of tear production and liver disease in children. The mutation, NGLY1 deficiency, has currently been identified in 14 individuals. “NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum–associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease.” For many patients, the discovery of the mutation by the Human Genome Project offers relief from the long journey of unanswered questions. “I think cognitively it’s really nice to have a label…once you do have a name, you can then start looking for a cure,” one parent said.

Read the article published by CNN News.