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
"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