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
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.
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
- 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,
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