Gene breakthrough boosts hope of drug for blood diseases

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http://www.guardian.co.uk/science/2013/jan/13/gene-breakthrough-blood-diseases


Noah Edwards, four, with his mum Ruby and sister Maya. Photograph: Nick Toogood

Noah Edwards is four years old and suffers from a disorder that prevents his blood from clotting. He bleeds profusely when cut and his face and body are easily bruised.

His condition, called platelet function disorder, is a constant worry for his mother, Ruby. However, thanks to Noah's involvement in a remarkable project, funded by the British Heart Foundation, his prospects of leading a normal life have received a major boost.

Researchers at Birmingham University have uncovered the genetic roots of platelet function disorder, a breakthrough that should not only improve screening and treatments for the condition but also increase chances of developing a new generation of drugs to counter blood clots and thrombosis, one of the main causes of death in the western world.

"We have discovered that a gene called G6b-B regulates the production of platelets in our blood," said Dr Yotis Senis, senior research fellow at Birmingham University. "Platelets are pieces of cellular material that circulate in our blood. When the wall of an artery is breached, platelets accumulate there and block the flow of blood."