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16 November 2015

Genomics England and epilepsy research

Genomics England  has sequenced the genes of 5,000 patients; 11 genomic medicine centres have been set up; 2,500 researchers are involved in the project; and the cost of sequencing a whole genome has fallen from £5,000 to £1,000.

These figures were reported in the House of Commons on Tuesday by George Freeman (right), parliamentary under secretary of state for life sciences.

Replying to a question about the progress of Genomics England, fielded by Jo Churchill, MP for Bury St Edmunds, Mr Freeman said: 'We have identified first diagnostics and treatments for some rare diseases.

'We are the first nation on earth to commit to sequencing 100,000 entire genomes of NHS patients, which will be combined with patient records to unlock NHS and UK leadership in the fast-emerging field of genomic medicine, focusing initially on rare diseases and cancer.

'NHS England is setting the international standard on ethics and patient consent in genomic medicine.'

Gene editing saves leukaemia girl

MP for Southport John Pugh drew Mr Freeman's attention to the case of one-year old Layla Richards whose life was saved from leukaemia by gene editing at Great Ormond Street Hospital. Mr Pugh asked what specific support he was providing for such pioneering work.

George Freeman replied: 'Genome editing is the latest in a suite of technologies that is rapidly emerging in genomics. Through the Genomics England programme, we are actively supporting those tools and intermediate technologies, and through the accelerated access review that I have launched, we are looking to harness those breakthroughs to support new treatments and new flexibilities for the National Institute for Health and Care Excellence and NHS England on targeted treatments.'

Epilepsy and genetic research

Genetic research is a key focus at Epilepsy Society. Understanding how a person's genetic make-up can affect their risk of developing epilepsy, the consequences and their response to treatment is central to research at the Epilepsy Society Research Centre (right).

The charity's medical director Professor Ley Sander explained: 'At the moment we are at the stage of unravelling the genetic architecture of epilepsy. In recent years the number of genes that we have been able to identify as being responsible for different forms of the condition has gone from a handful to hundreds.

‘We are recognising epilepsy syndromes, defining them genetically and we are beginning to understand them biologically.

‘Currently our focus is  looking at the extreme forms of epilepsy characterised by uncontrolled seizures and difficulties such as learning disabilities. In severe forms of epilepsy it can be easier to pinpoint the missing part of the genome which is causing the mal-functioning genes. In less severe epilepsies it can be far more difficult to pick out the genetic variants which are causing the seizures.'

Find out more

Have a look inside our research laboratories and see how our DNA sequencer enables researchers to map a person's DNA quickly and efficiently on site..
Have a look inside our research centre to see the cutting-edge technology that is helping us to unravel the biology of epilepsy..