Molecular genetics of sex determination and gonad development

性发育障碍是人类最常见的出生缺陷形式之一(每4,000名新生儿中就有一名)。有这种发病率的许多其他儿童状况需要产前诊断或新生儿筛查。这些疾病往往会导致不孕不育、生殖器畸形和性别错配。S出生时的性别不确定对有关个人和家庭的身体和心理都会造成非常大的创伤。对受影响的个人来说，这会在以后的生活中产生深远的后果。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的基因调控网络的失败。这项研究项目将识别对性别决定和性腺发育至关重要的基因，找出这些基因是如何发挥作用和相互作用的，并发现它们是如何导致人类异常的性发育的。

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.