Disorders/differences in sex development (DSD) and adrenal hypoplasia.
Qualifications and training
Registered degrees: MB, BChir, MA, DCH, FRCP, FRCPCH, MD, PhD.
Professor John Achermann trained in Medicine in Cambridge (1991) and Paediatric Endocrinology in London (MD 1997) before undertaking a post-doctoral fellowship in Molecular Medicine at Northwestern University, Chicago, USA (1998-2001).
He completed his clinical training with a Clinician Scientist award from The Wellcome Trust (CCST 2005). Since 2006, he has been a Wellcome Trust Senior Research Fellow in Clinical Science at UCL Institute of Child Health.
He is an active member of the interdisciplinary teams for DSD at Great Ormond Street Hospital and UCLH.
John Achermann’s research interests include:
adrenal and sex development
genetic mechanisms of disease
nuclear receptor biology
John Achermann’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, Professor Achermann is interested in the clinical management of DSD and in care pathways, education and support for families with these conditions.
Arboleda, V. A., Lee, H., Parnaik, R., Fleming, A., Banerjee, A., Ferraz-de-Souza, B., Délot, E. C., Rodriguez-Fernandez, I. A., Braslavsky, D., Bergadá, I., Dell'Angelica, E. C., Nelson, S. F., Martinez-Agosto, J. A., Achermann, J. C., Vilain, E. (2012). Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet 44(7), 788-792 doi:10.1038/ng.2275. Author URL
Achermann, J. C., Jameson, J. L. (2011). Disorders of sex development. In Longo, D. L., Fauci, A. S., Kasper, D. L., Hauser, S. L., Jameson, J. L., Loscalzo, J. (Eds.). Harrison's principles of internal medicine (18th ed. pp.3046-3055). New York: McGraw-Hill.
Guclu, M., Lin, L., Erturk, E., Achermann, J. C., Cangul, H. (2010). Puberty, stress, and sudden death. Lancet 376(9751), 1512- doi:10.1016/S0140-6736(10)61153-1. Author URL
Brain, C. E., Creighton, S. M., Mushtaq, I., Carmichael, P. A., Barnicoat, A., Honour, J. W., Larcher, V., Achermann, J. C. (2010). Holistic management of DSD. Best Pract Res Clin Endocrinol Metab 24(2), 335-354 doi:10.1016/j.beem.2010.01.006. Author URL
Lourenço*, D., Brauner*, R., Lin*, L., De Perdigo, A., Weryha, G., Muresan, M., Boudjenah, R., Guerra-Junior, G., Maciel-Guerra, A. T., Achermann, J. C., McElreavey, K., Bashamboo, A. (2009). Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360(12), 1200-1210 doi:10.1056/NEJMoa0806228.