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UCL Great Ormond Street Institute of Child Health

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Professor John Achermann

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HUMAN ADRENAL AND REPRODUCTIVE BIOLOGY

Our group’s aims are to better understand the genetic mechanisms of human endocrine development with a focus on adrenal and reproductive biology, cell growth and sex chromosomes. This work is leading to improved diagnosis and management.

Main Funding: The Wellcome Trust, GOSHCC

Our current work focusses on the role of somatic and genomic variation on human reproductive development, growth and endocrine function.

1) Somatic adaptation in endocrine disorders.

Recently, we have described how changes in a protein, SAMD9, can interfere with development, but also how cells can change dynamically to overcome this problem (somatic adaptation/reversion). We are now investigating whether SAMD9 or somatic adaptation has a wider role in endocrine systems and human biology.

2) Sex-differences in development

We have also described the dynamic genetic/transcriptomic events underlying development of the gonads (testes, ovaries) and adrenal glands in human. We are now studying the interaction of genes, sex chromosomes and hormones in early development, which may also shed light on conditions where there are sex-differences.

3) Molecular basis of endocrine disorders

We are continuing our efforts to find new genetic causes and mechanisms for adrenal and reproductive dysfunction, fetal growth restriction and pregnancy complications. This knowledge is leading to personalised approaches to management and the potential discovery of new therapeutic approaches for a range of conditions.

Link to IRIS