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

特殊语言障碍（或SLI）是指智力正常，但在学习使用或理解语言方面存在问题的儿童。我们知道SLI在家庭中运行，是一种复杂的遗传疾病。这意味着一些人携带某些基因组合，当伴随着特定的环境因素时，使他们对语言缺陷特别敏感。据推测，这些变化微妙地改变了对大脑发育重要的蛋白质的功能。我们的团队在英国牛津大学的人类遗传学威康信托中心最近发现了两个与SLI易感性有关的基因。我正在申请一笔资金来研究这些基因和它们周围的DNA序列。这项研究将允许识别导致SLI易感性的特定遗传因素，并帮助我们发现哪些蛋白质网络在这一过程中是重要的。了解这些系统将有助于早期识别受影响的个人，并允许设计更好的语言治疗方案。此外，这些信息也可能有助于相关的发展障碍（如阅读障碍）的研究和正常语言习得的特征。

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.