Somatic adaptation and sex differences in human endocrine development and disease  

Year of award: 2017


  • Prof John Achermann

    University College London

Project summary

Our studies focus on conditions affecting human adrenal and reproductive function. It is important that these conditions are diagnosed and treated appropriately. We have described how changes in the protein SAMD9 can interfere with development, but also how cells can change dynamically to overcome this problem, which is known as somatic adaptation. We have also described the dynamic genetic events underlying sex differences in the development of the testes and ovaries. We want to investigate whether SAMD9 or somatic adaptation have a wider role in human biology.

We will study the role of sex chromosomes and hormones in early development and in diseases where there are differences determined by sex. We will use this information to investigate adrenal and reproductive conditions and use novel approaches to address sex differences in common diseases.

Our findings will improve diagnosis and management of a range of hormone-related conditions.