Molecular genetics of sex determination and gonad development

性发育障碍是人类最常见的出生缺陷之一（每4000个新生儿中就有1个）。许多其他有这种发病率的儿童疾病需要产前诊断或新生儿筛查。这些疾病通常导致不孕、生殖器异常和性别分配错误。孩子出生时性别的不确定性会给相关个人和家庭带来巨大的生理和心理创伤。受影响的人在以后的生活中会产生深远的影响。这些问题的原因通常是负责胚胎中睾丸或卵巢正常发育的微妙基因调控网络的失败。该研究项目将确定对性腺性别决定和发育重要的基因，找出这些基因如何发挥作用和相互作用，并发现它们如何导致人类性发育异常。

Disorders of sexual development are among the most common forms of birth defects in humans (1 in 4,000 births). Many other childhood conditions with this incidence warrant prenatal diagnosis or neonatal screening. These disorders often result in infertility, genital abnormalities and gender mis-assignment. Uncertainty about a child s gender at birth can be very traumatic physically and psychologically for the individual and family concerned. There are profound consequences in later life for the affected individual. The cause of these problems is most often the failure of the delicate network of gene regulation that is responsible for proper development of testes or ovaries in the embryo. This research project will identify genes important for sex determination and development of the gonads, find out how these genes function and interact, and discover how they contribute to cases of aberrant sexual development in humans.