Identifying the genes responsible for intersex conditions

Project description

Intersex is a term used to describe a variety of congenital conditions where gonadal or anatomical sex is atypical. Intersex conditions encompass a wide range of abnormalities, including hypospadias (abnormal urinary opening in males), gonadal dysgenesis (underdeveloped or imperfectly formed gonads), ambiguous genitalia, and sex reversal (i.e. XX males and XY females). Our aim is to identify genes causing intersex conditions, and the molecular mechanisms underlying testis and ovary formation in the mammalian embryo. This proposal will provide new insights into the molecular control of testis development, and thus offer the potential to improve diagnosis and clinical management of intersex conditions. Approaches include human genetics, as well as molecular, cell and developmental biology. See: Leon NY, Reyes AP and Harley VR (2019) A clinical algorithm to diagnose differences of sex development. Lancet Diabetes Endocrinol 7:560-574 or visit the website for the NHMRC research program on intersex conditions: http://dsdgenetics.org/.