Novel mechanisms in adrenal and reproductive biology
Year of award: 2012
Grantholders
Prof John Achermann
University College London
Project summary
Disorders of adrenal and gonad development are a diverse group of conditions that can be challenging to manage and potentially life-threatening. Professor Achermann's research focuses on: defining key molecular events involved in critical stages of adrenal and gonad development in humans; discovering novel causes of and diagnostic approaches to disorders (or differences) of sex development, ovarian insufficiency and adrenal hypoplasia; and exploring the ever-expanding role of steroidogenic factor 1 (NR5A1) in human disease. As well as having implications for the management of individuals with rare conditions, these studies are relevant for more common conditions such as infertility.