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Major investment by BRC boosts disability diagnosis.

Children in the North West with a range of genetic conditions including learning disabilities will now have access to faster and improved diagnosis, thanks to the new Manchester Biomedical Research Centre (BRC).

Based at the Central Manchester and Manchester Children's University Hospitals NHS Trust, the BRC has invested £250,000 in a high resolution chip analyser. This analyses samples of DNA from patients and can identify tiny genetic changes which indicate the cause of a child's developmental problems.

"Each year over a thousand children and their parents are referred to our clinical genetics department in order to provide an explanation and a diagnosis for a range of developmental conditions such as learning disability. These can now be analysed very quickly using the new chip analyser in our DNA laboratory," explained Professor Graeme Black, who heads the team working with the new equipment.

"Conditions such as Downs syndrome are fairly easy to identify because they have a recognisable pattern of problems and can be diagnosed by simply looking down a microscope to count the number of chromosomes a child has. Other birth defects are extremely varied and we may not recognise an obvious genetic pattern just from looking at the patient's symptoms - this makes a genetic cause much harder to detect as we have to look at all the genetic information in detail rather than just focusing on one area. The high resolution chip analyser means very small changes can be detected quickly and easily."

"Once we have diagnosed the problem, we can work with the family to explain why such problems have occurred as well as to look at treatment options for the child. If the problem is inherited, we can also counsel parents about the implications if they decide to have another baby." The new chip analyser is one of very few in the North West, and has a wide range of capabilities. In addition to diagnosing genetic learning disabilities, scientists and researchers at the BRC will also use it to diagnose other inherited conditions as well as to help identify genes underlying more common conditions such as arthritis.

Added Professor Black "Some of the families who have already started to benefit from this resource have been known to the department for many years and have previously undergone many other investigations. Now that we have the chip analyser many children will be diagnosed much earlier and will be spared the need to have other tests."