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Manchester gene sequencing project could hold key to better diagnosis for severe learning disability

In many children with severe learning disability, the cause is linked to a genetic disorder. Finding the cause of the problem can have many benefits; it can provide information about how to best to manage the child concerned and can answer parents' questions about the cause and whether there would be risks for future children.

Finding the problem gene often involves many investigations, however, including repeated blood tests and sometimes others such as scans under anaesthetic. All of these can be time-consuming and distressing for the children and families involved.

An NIHR Manchester Biomedical Research Centre funded team led by Prof Jill Clayton-Smith is embarking on a study to look at the benefits of sequencing up to 100 genes at a time, to help speed up the diagnosis and treatment of these children. Together with Simon Ramsden and Jill Urquhart, she will be using the Biomedical Research Centre sequencer to help analyse genes taken from a study cohort of 100 patients from across the North West region.

The two and a half year study is supported by the Biomedical Research Centre, plus a £125,000 grant from the charity Action Medical Research. Prof Clayton-Smith was supported by the charity 25 years ago when they funded her training fellowship, and is delighted to be working with them again.

"Our aim is not just to identify the genes involved, but to correlate our genetic findings with the clinical signs that the patients present with," she said. "For example, a combination of symptoms such as severe learning disability, specific physical malformations and seizures may have a direct link to a specific faulty gene. We're hopeful this research will lead to better and faster diagnosis, and avoid the need for lots of individual tests."



  • The NIHR Manchester Biomedical Research Centre was created by the National Institute for Health Research in 2008 to effectively move scientific breakthroughs from the laboratory, through clinical trials and into practice within hospitals to improve patient care. As a partnership between Central Manchester University Hospitals NHS Foundation Trust and The University of Manchester, the Biomedical Research Centre is designated as a specialist centre of excellence in genetics and developmental medicine. www.manchesterbrc.org
  • For further information please contact Kate Henry, Communications & Public Relations Manager, on 0161 276 3281 or email: kate.henry@cmft.nhs.uk