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21/01/2016

Minister for Life Sciences pledges increased capacity for genetic testing

Life science minister George Freeman has underlined the government's commitment to increasing capacity for genetic testing  with the creation  of the regional Genomic Medicine Centre as part of the 100,000 Genomes Project.

The project aims to sequence 100,000 whole human genomes and covers patients with rare diseases, cancer and infectious diseases. There will be 75,000 participants in the project, 40,000 of which will be patients and 35,000 of which will be healthy relatives.

Mr Freeman was responsding to a question submitted by MP for South Down, Margaret Ritchie, asking : What steps he is taking to ensure greater levels of genetic testing for cancer and ultra rare diseases; and if he will make a statement.

Genetic research is a key focus at Epilepsy Society. 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.'