Researchers have identified an elusive gene responsible for Gray Platelet Syndrome, an extremely rare blood disorder in which only about 50 known cases have been reported. As a result, it is hoped that future cases will be easier to diagnose with a DNA test.
The findings were made following a collaborative study by Professor Willem Ouwehand and Dr Cornelis Albers, who are both based at the Wellcome Trust Sanger Institute and the University of Cambridge, and Dr Paquita Nurden, from the Rare Platelet Disorders laboratory, based in Bordeaux, who have described how they achieved this.
Platelets are the second most abundant cell in the blood. Their main task is to survey the blood vessel wall for damage and to orchestrate its repair where required. On the flip side, platelets also play a "darker" role after vessel wall damage and cause blood clots that may lead to heart attacks or stroke.
Some people are born with platelets that do not function well and these rare conditions are thought to be inherited. Gray Platelet Syndrome poses a risk of bleeds, some of which can be severe and life threatening, e.g. if they occur in the brain. Gray Platelet Syndrome was first identified in the 1970s and is named for the grayish appearance of these platelets when viewed with a microscope.
Identifying the cause of increased bleeding in young patients has been a painstaking process. An important step in translating research findings in human genetics in improvements of patient care has focused around the need to develop simpler and rapid DNA-based diagnostic test. To achieve this, researchers needed to discover the gene responsible for the rare platelet bleeding disorders.
In the past it was a major challenge to discover which genes caused rare disorders because DNA samples from numerous large families affected by the same disorder had to be identified and genetically analysed to pinpoint the region harbouring the causative gene.
|Contact: Don Powell|
Wellcome Trust Sanger Institute