NEW YORK (GenomeWeb News) – Researchers affiliated with the UK National Health Service are developing a DNA test for a rare blood disorder called Grey Platelet Syndrome.
Last week, a team of researchers from the UK, France, and the Netherlands found NBEAL2 mutations through whole-exome sequencing on four unrelated individuals with the disorder. The researchers found that the protein encoded by the NBEAL2 gene is altered at a different position in the four patients and that those affected by the disorder have inherited two non-functioning copies of the gene, one from the father and one from the mother.
According to a statement issued by the Wellcome Trust Sanger Institute, one of the participants in the study, a new, simple DNA test is being developed for the disorder at the NHS Blood and Transplant Centre at the Addenbrooke's Biomedical campus in Cambridge, UK.
"It is really great to see how the use of modern genomics technologies is going to be of direct benefit for patient care," William Ouwehand, who heads a NHS Blood and Transplant research team on platelet biology at both the Wellcome Trust Sanger Institute and the University of Cambridge, and a lead author of the study published in Nature Genetics, said in a statement.
"[W]e have shown that the genetic basis of a rare bleeding disorder can be discovered with relative ease," he added. "This study … gives us confidence to achieve the same for a large number of other rare inherited platelet bleeding disorders."
Grey Platelet Syndrome was first identified in the 1970s and is caused by the absence or reduction of alpha granules in blood platelets. According to the Wellcome Trust Sanger Institute, only about 50 known cases of the disorder have been reported.