Achermann Group

Human Adrenal and Reproductive Biology

Our 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.

Projects 

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

1) Sex-differences and sex-chromosomes in development

We are interested in 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.

2) 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.

3) Early-Onset primary ovarian insufficiency (POI)

We are studying the genetic causes of early-onset POI and linking our findings to early human ovary development and meiosis.

Key publications

  • Del Valle, I., Young, M.D., Kildisiute, G. et al. An integrated single-cell analysis of human adrenal cortex development. JCI Insight. 2023;8:e168177. doi: 10.1172/jci.insight.168177.

  • McGlacken-Byrne, S. M., del Valle, I., Stabej, P. L. Q., et al. Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency. JCI Insight, 2022:7, e154671. doi:10.1172/jci.insight.154671

  • Buonocore, F., Maharaj, A., Qamar, Y., et al. Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK. Journal of the Endocrine Society. 2021;5:bvab08

  • Buonocore, F., Kühnen, P., Suntharalingham, J. P., et al. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest. 2017;127(5):1700-1713. PMCID:5409795

  • Del Valle, I., Buonocore, F., Duncan, A. J., et al.  A genomic atlas of human adrenal and gonad development. Wellcome Open Res. 2017:2:25. PMCID:5407452

  • Guran, T., Buonocore, F., Saka, N., et al.  Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort. J Clin Endocrinol Metab. 2016;101(1):284-292. PMCID:4701852

  • Arboleda, V. A., Lee, H., Parnaik, R., et al.  Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012;44(7):788-792. PMCID:3386373

  • Lourenço, D., Brauner, R., Lin, L., et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009;360(12):1200-1210. PMCID:2778147

  • Achermann, J. C., Ito, M., Ito, M.,et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999;22:125-126.

Principal Investigator 

Professor John Achermann - UCL Profiles page

John Acherman

Contact us

 Section staff list

Molecular Basis of Rare Diseases Section

UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London
WC1N 1EH