MB BChir MA DCH FRCP FRCPCH MD PhD
John trained in medicine in Cambridge (1991, MB), paediatric endocrinology in London (1997, MD) and molecular biology in Chicago, USA (1998-2001, PhD). His interests include human adrenal and sex development and endocrine genetics. Since 2006, he has been a Wellcome Trust Senior Fellow at UCL Great Ormond Street Institute of Child Health and has around 200 publications. He is passionate about football - the beautiful game.
- Differences in sex development
- Congenital adrenal hypoplasia
John’s research focuses on the mechanisms involved in adrenal and gonad (testis, ovary) development in humans. His team are trying to gain a better understanding of the factors that influence development of these organs and are investigating new conditions causing adrenal hypoplasia or disorders/ differences of sex development (DSD) in children and adults. In addition to these laboratory based approaches, he is interested in the clinical management of DSD and in care pathways, education and support for families with these conditions.
- adrenal and sex development
- genetic mechanisms of disease
- nuclear receptor biology
Read more about John's academic profile here.
McGlacken-Byrne, S. M., del Valle, I., Stabej, P. L. Q., Bellutti, L., Garcia-Alonso, L., Ocaka, L. A., . . . Achermann, J. C. (2022). Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency. JCI Insight, 7 (5), e154671. doi:10.1172/jci.insight.154671
Buonocore, F., Maharaj, A., Qamar, Y., Koehler, K., Suntharalingham, J. P., Chan, L. F., . . . Achermann, J. C. (2021). Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK. Journal of the Endocrine Society. doi:10.1210/jendso/bvab08
Buonocore, F., Clifford-Mobley, O., King, T. F. J., Striglioni, N., Man, E., Suntharalingham, J. P., . . . Achermann, J. C. (2019). Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD. Journal of the Endocrine Society. doi:10.1210/js.2019-00306
del Valle, I., Buonocore, F., Duncan, A. J., Lin, L., Barenco, M., Parnaik, R., . . . Achermann, J. C. (2017). A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved]. Wellcome Open Research, 2, 25. doi:10.12688/wellcomeopenres.11253.2
Buonocore, F., Kühnen, P., Suntharalingham, J. P., Del Valle, I., Digweed, M., Stachelscheid, H., . . . Achermann, J. C. (2017). Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest. doi:10.1172/JCI91913