Mending Broken Hearts Appeal - help us fight for a cure

January 13, 2012

Gene breakthrough could help combat killer blood clots

Red blood cellsWe’re funding scientists and doctors in Birmingham to help people who have rare disorders which cause them to bleed uncontrollably.

They have found clues in the lab which will help identify and diagnose more patients, so they can get the right treatment.

There are an estimated 2,000 people in the UK living with inherited platelet disorders – which means they don’t have enough functioning platelets (which are needed for normal blood clotting). People with these disorders can bruise just from wearing a watch or rucksack, and suffer from spontaneous nose bleeds.

Doctors are running a study across the UK – called GAPP – to better identify people with inherited platelet disorders, so they can get the best treatment.  Alongside the clinical study, scientists in the lab are looking at what causes the different platelet disorders.

Dr Hélène Wilson, our Research Advisor, said:

“As well as potentially benefiting patients with rare clotting disorders, we hope this research will also open up new therapeutic avenues to develop treatments which prevent the deadly blood clots that can cause heart attacks and strokes.”

Protein identified

BHF Research Fellow Dr Yotis Senis recently made a breakthrough in the lab and found that a protein called G6b-B could be involved, as it interferes with normal platelet function. He said:

“We pass information back and forth between basic scientists and clinicians – much like a game of ping-pong. Discoveries we make in the lab provide information for screening patients.”

Noah Edwards was diagnosed with platelet function disorder with thrombocytopenia at the age of one, and he has been involved in the GAPP clinical study to improve knowledge on problems with platelet function.

Noah’s mum Ruby, is hugely encouraged by the work at Birmingham:

“It’s very difficult when your child is diagnosed with a condition which is so little understood. I am delighted that Noah is among the patients who have been studied in GAPP as it brings us closer to understanding these rare yet important conditions.”

The research was published in the journal Science Signalling.