Gene screening to 'fundamentally change' understanding of childhood disorders

Posted: May 27, 2013 at 8:52 pm

Dr Matthew Hurles, who is leading the project, said: "This study will fundamentally change our understanding of how genetics causes these severe developmental disorders.

"That will undoubtedly impact on diagnosing them, and over the next few decades it will be the foundation for how we will end up treating them."

Although each condition may only affect a handful of children, there are hundreds of developmental disorders which are currently unknown to science affecting thousands of babies born each year.

Errors in the children's genes prevent them from developing normally, with common symptoms including learning or behavioural difficulties, birth defects such as cleft lip or extra fingers or toes, or growth problems.

Doctors still do not understand why most developmental disorders occur, meaning they are unable to tell the patient or their family why the condition has arisen.

In some cases the genetic error is inherited from one or other parent meaning they may be at risk of having another child with the same condition while in others it arises for the first time in the child.

The research drive was launched ahead of David Cameron's announcement in December that 100,000 NHS patients will have their entire genome sequenced within the next three years in a bid to transform care for patients with cancer and rare diseases.

Having such a vast database will allow doctors a greater understanding of how a patient's DNA can cause disease and influence the way they respond to different treatments, leading towards a future goal of tailored treatment, he said.

Speaking at the time of the announcement Mr Cameron said: "By unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs and above all better care."

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Gene screening to 'fundamentally change' understanding of childhood disorders

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