Researchers with the U.S. National Institutes of health today announced the discovery of a new genetic disorder. The disease is known to affect young children, causing fever, rashes, and strokes that can cause severe disability. It has been dubbed DADA2 for deficiency of adenosine deaminase 2.
Doctors at the National Human Genome Research Institute (NHGRI) used genome sequencing to provide a diagnosis for the condition. They found that some variants of the CECR1 gene stall production of a protein important for blood vessel integrity. The findings have been published in the New England Journal of Medicine.
“This discovery is another example of genome sequencing playing a central role in revealing the genomic basis for an important rare disease,” said Dr. Eric Green, director of the NHGRI. “Such studies illustrate how genomics is paving the way to improved human health.”
Through the genetic testing, researchers were able to determine that the condition causes a lack of the ADA2 enzyme. This, in turn causes abnormalities in the wall of blood vessels causing them to swell and produce the symptoms seen in affected children.
Green and his colleagues hope that the discovery of DADA2 could soon lead to better treatment options for such children. Specific drugs that reduce blood vessel swelling are one option. Another is an ADA2 replacement therapy option to introduce ADA2 into the bloodstreams of those affected with the condition, for which an artificial ADA2 protein might help. Bone marrow transplants could also be an option for patients as could altering the genetics of their existing bone marrow.
“This genome sequencing study expands what has previously been known about vascular biology, and it is truly gratifying to be among two labs using next-generation genome sequencing technology to arrive at complementary conclusions about the functionality of the same gene,” said Dr. Daniel Kastner, the scientific direector at the NHGRI. “The role of ADA2 in such serious human disease is important and suggests that ADA2 variants may contribute to other more common illnesses.”