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Posts tagged ‘genetics’

Sharing rare data for a common cause

The information that gathers in our wake as we move through life and health centre or hospital waiting rooms is a powerful tool for medical research. Cecily Berryman tells us how a health emergency brought discussions about data science to the heart of her family.

Three years ago my husband suddenly became very ill. He needed emergency surgery to fix a tear in his aorta, the huge artery that carries blood as it pumps away from the heart. Afterwards the surgeon called it an ‘acute aortic dissection’ and mentioned it was likely to be a connective tissue disorder that has a genetic cause. Extensive testing revealed it was not a known disorder.

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Single cell technology – an eye for detail

New technology is helping scientists study the secrets of single cells in more detail than ever before. Dr Roy Drissen at the  MRC Weatherall Institute for Molecular Medicine tells Sylvie Kruiniger how single cell technology has helped them discover a previously unknown stage in blood cell development which may have implications for the future of leukaemia treatment.

Dr Roy Drissen holds a microfluidic chip. Photo: martinphelps.com

 

“Before Galileo invented the telescope, we could just see Jupiter. With the telescope, we saw that Jupiter had moons. That’s what single cell technology is doing for biology: where we used to think there was only one type of cell, we can now see several.” Read more

UK Biobank: looking at the whole person

Today, the UK Biobank has launched the largest body scanning project in the world. Funded by the MRC, Wellcome Trust and British Heart Foundation, the biobank will scan 100,000 people to provide images of their brains, hearts, bones, carotid arteries and abdominal fat. Head of the Division of Brain Sciences at Imperial College London Professor Paul Matthews is one of the academic experts who have been supporting UK Biobank to create this resource and he tells us how it could prove invaluable to all areas of medicine.

Professor Paul Matthews

Building the bank
Over 10 years, the UK Biobank has recruited and gathered a wealth of high quality information from 500,000 people across the country. These people have donated blood, urine and saliva samples, provided detailed health, lifestyle and environment information and agreed to allow the biobank to follow their GP and hospital records throughout life.

Now we will be adding sophisticated imaging to enrich our understanding of the origins and progression of the major diseases of later life. Read more