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Geneticists aim to develop test to identify learning disability
January 20, 2000Clinical geneticist and principal investigator Dr David FitzPatrick explains: "In approximately 10% of CGMH cases, the condition will be caused by a chromosomal abnormality such as a chromosome 21 problem as in Down's Syndrome. Recent studies have suggested that a further 6% of cases may be caused by tiny sub-microscopic abnormalities at the ends of the chromosomes which we have called cryptic subtelomeric aneuploidy (CRYSTA).
"The present methods available to detect CRYSTA are expensive and unsuitable for the analysis of the large number of cases of CGMH - between 600 and 900 - that are diagnosed every year in Scotland."
The Chief Scientist's Office (Scottish Executive) has awarded a grant of £137,146 to the team to evaluate the use of a test which uses a quantitative fluorescence-based polymerase chain reaction technique. Using samples of blood taken for other purposes, the technique will test between 600 and 800 children with previously unexplained CGMH, to assess the prevalence of CRYSTA in this group.
Says David FitzPatrick: "The identification of CRYSTA not only provides an explanation for the disorder, thus preventing further expensive diagnostic investigations, but also clarifies the recurrence risk and enables prenatal diagnosis and carrier testing within families."
Samples stored from 2000 other children with learning disabilities will also be used in this testing process.
Other researchers working on the 26-month project are Professor David Bonthron, medical genetics, Dr Harry Campbell, Public Health Sciences, and consultant paediatricians Dr Anne O'Hare and Dr Patricia Jackson.
For further information,
please contact:
Dr David FitzPatrick, Molecular Medicine Centre, Tel: 0131 651 1017
Edinburgh, University of
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