Investigating the genetic cause of genital abnormalities in males

本研究旨在探讨男性生殖器常见缺陷尿道下裂的遗传原因。尿道下裂是指阴茎开口位置异常。尿道下裂影响1 ~250男性，通常需要手术，并可能导致性交和排尿问题。利用新技术研究患者的DNA，我们将确定导致尿道下裂的突变和参与男性生殖器发育的新基因。这将改善临床诊断和患者管理。

This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.