The genetic basis of intellectual disability
The aim of my group is to identify and understand the genetic causes of intellectual disability. Until recently the focus has been on X-linked disease, as it is thought to account for the majority of familial cases and it was experimentally the most tractable.
Strategies that are being used to identify the cause of human disease are to perform high throughput sequence analysis and array CGH on samples from families with disease. Both techniques are powerful and have yielded useful results to date. We are continuing to do this by more detailed analysis of the X chromosome and also analysis of autosomes as a cause of intellectual disability as the predictions are that there are ~2000 genes throughout the genome that are critical to normal intellectual development.
We are also investigating specific gene abnormalities and trying to understand the mechanism of disease both in our own laboratory and in collaboration with other research groups. Our work has led to the identification of a number of new syndromes and greater understanding of the sequence variation of the human genome.
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