Gene sequencing could hold key to better severe learning disability diagnosis

A team led by Professor Jill Clayton-Smith is investigating the benefits of sequencing up to 100 genes at a time, to help speed up the diagnosis and treatment of children with severe learning disabilities. With Simon Ramsden and Jill Urquhart, she is using next generation sequencing to help analyse genes taken from a study cohort of 100 patients from across the North West of England.

The group’s aim is not just to identify the genes involved but to correlate the genetic findings with the clinical signs that the patients present with. 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. The group hope this research will lead to early and more accurate diagnosis avoiding the need for a long series of investigations.

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