Achermann Group
Human Adrenal and Reproductive Biology
We aim to better understand the genetic mechanisms of human endocrine development with a focus on adrenal and reproductive biology, cell growth and sex chromosomes. Our focus in the past 25 years has been to understand basic mechanisms of human endocrine development, to discover new genetic conditions that affect hormone systems, and to use this information to improve diagnosis, management and support for young people and their families.
Current Projects
Sex-differences and sex-chromosomes in development
We are interested in the dynamic genetic/transcriptomic events underlying development of the gonads (testes, ovaries),adrenal glands and other endocrine systems in humans. We are now studying the interaction of genes, sex chromosomes and hormones in early development.
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.
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.
- Dr Ignacio del Valle Torres, Senior Research Fellow
Recent Staff
- Jenifer Suntharalingham
- Federica Buonocore
- Sinead McGlacken-Byrne
Collaborators
- Human Developmental Biology Resource
- UCL Genomics
Funders
- Wellcome
- British Society for Paediatric Endocrinology & Diabetes
Mapping the anatomical and transcriptional landscape of early human fetal ovary development.
McGlacken-Byrne SM, Del Valle I, Xenakis T, Simcock IC, Suntharalingham JP, Buonocore F, Crespo B, Moreno N, Liptrot D, Niola P, Brooks T, Conway GS, Dattani MT, Arthurs OJ, Solanky N, Achermann JC. Sci Rep. 2025 May 6;15(1):15814. doi: 10.1038/s41598-025-96135-y.
Transcriptomic sex differences in early human fetal brain development.
Buonocore F, Suntharalingham JP, Ogunbiyi OK, Jones A, Moreno N, Niola P, Brooks T, Solanky N, Dattani MT, Del Valle I, Achermann JC. Commun Biol. 2025 Apr 25;8(1):664. doi: 10.1038/s42003-025-08070-3.
Suntharalingham JP, Del Valle I, Buonocore F, McGlacken-Byrne SM, Brooks T, Ogunbiyi OK, Liptrot D, Dunton N, Madhan GK, Metcalfe K, Nel L, Marshall AR, Ishida M, Sebire NJ, Moore GE, Crespo B, Solanky N, Conway GS, Achermann JC. Commun Biol. 2025 Feb 16;8(1):249. doi: 10.1038/s42003-025-07699-4.
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2.
An integrated single-cell analysis of human adrenal cortex development.
Del Valle I, Young MD, Kildisiute G, Ogunbiyi OK, Buonocore F, Simcock IC, Khabirova E, Crespo B, Moreno N, Brooks T, Niola P, Swarbrick K, Suntharalingham JP, McGlacken-Byrne SM, Arthurs OJ, Behjati S, Achermann JC. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177.
Man E, Mushtaq I, Barnicoat A, Carmichael P, Hughes CR, Davies K, Aitkenhead H, Amin R, Buchanan CR, Cherian A, Costa NJ, Creighton SM, Duffy PG, Hewson E, Hindmarsh PC, Monzani LC, Peters CJ, Ransley PG, Smeulders N, Spoudeas HA, Wood D, Hughes IA, Katugampola H, Brain CE, Dattani MT, Achermann JC.J Endocr Soc. 2022 Oct 28;7(1):bvac165. doi: 10.1210/jendso/bvac165.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086.
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913.
A genomic atlas of human adrenal and gonad development.
Del Valle I, Buonocore F, Duncan AJ, Lin L, Barenco M, Parnaik R, Shah S, Hubank M, Gerrelli D, Achermann JC. Wellcome Open Res. 2017 Apr 7;2:25. doi: 10.12688/wellcomeopenres.11253.2.
For a full publication list please visit Professor John Achermann's UCL Profiles page
Genetics and Genomic Medicine
UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London WC1N 1EH