According to an article from Newswise, the Coriell Institute for Medical Research announced the release of rare new N-glycanase deficiency samples. These samples will be available to researchers so that they can be accessed for further study.
N-glycanase (NGLY1) deficiency is caused by at least thirteen mutations on the NGLY1 gene which is found on chromosome three. This deficiency is extremely rare with only fifty people worldwide who are known to have the disorder. It was only discovered fairly recently, and so far very little research has been conducted in order to learn more about it, and no treatments have been developed. The NGLY1 gene is responsible for the production of n-glycanase, which breaks down sugar molecules found on proteins. When deficient, these abnormal proteins begin to accumulate in the body. Symptoms of NGLY1 deficiency include delays in development, problems with the liver, inability to produce tears, and abnormal, chorea-like movements. To learn more about n-glycanase deficiency, click here.
The new release does not represent the first samples for NGLY1 that the Coriell Institute has released, but the number available has now increased substantially. In the past, only sixteen samples were available for research, but now that number has increased to fifty-one. For diseases that are as rare as NGLY1, the availability of these samples is even more essential than usual. The samples are one of the few resources available for scientists to study the disorder since the number of patients is so small. Without them, the research process would be more lengthy and complicated since the researchers would have to seek samples themselves. With the availability of these new samples for NGLY1, the opportunities for research are now greater than ever before.
The Coriell Institute is dedicated to understanding the ways that individual genetic differences affect health, and it is considered one of the world’s foremost ‘biobanks,’ which store primarily human biosamples meant for research use. Resources from the organization have been used by researchers in eighty-five countries. The institute is also dedicated to the development of individualized clinical care rooted in the understanding of the role that genes play in treatment.
