Investigation of the roles of CMIP and ATP2C2 in Specific Language Impairment (SLI).

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Specific Language Impairment (or SLI) is diagnosed in children who have problems learning to use or understand language despite normal intelligence and otherwise typical development. We know that SLI runs in families and is a complex genetic disorder. This means that some individuals carry certain gene combinations that, when accompanied by particular environmental factors, make them particularly sensitive to language deficits. It is assumed that these variations subtly alter the function of proteins important for brain development. Our team at the Wellcome Trust Centre for Human Genetics in Oxford has recently identified two genes that contribute to SLI susceptibility. I am asking for a grant to characterise these genes and the DNA sequence around them. This research will allow the identification of specific genetic elements that cause predisposition to SLI and help us to discover which protein networks are important in this process. An understanding of these systems will help the early identification of affected individuals and allow the design of better speech therapy programs. In addition, this information may also be useful for the study of related developmental disorders (such as dyslexia) and the characterisation of normal language acquisition.