Dr Derralynn Hughes

Job title

Professor Experimental Haematology

Clinical Director of Research and Innovation at the Royal Free London NHS Foundation Trust,

Co-Clinical Director of the NCL cancer Alliance



GMC Number


Contact details

Phone number: 020 794 0500 ext: 22497

Email address: derralynnhughes@nhs.net

PA/secretary email address: Tracey.Clarke1@nhs,net

Related services

Lysosomal storage disorder - Gaucher's disease


Prof.  Derralynn Hughes is Professor of Experimental Haematology at the University College London, Clinical Director of Research and Innovation at the Royal Free London NHS Foundation Trust, and Co-Clinical Director of the NCL cancer Alliance. She is also chair of the European Working Group on Gaucher Disease. She has clinical responsibilities in the area of Haematology and Lysosomal Storage Disorders and is chair of the anaemia clinical practice group.

She directs the research programme in the LSD unit where interests include understanding the pathophysiology of phenotypic heterogeneity in Fabry Disease and bone related pathology in Gaucher disease and malignancy. Prof Hughes is Principal Investigator of a number of clinical trials examining the efficacy of Enzyme, Chaperone and gene therapies and other new agents in the treatment of Gaucher, Fabry, Pompe and MPS disorders. A particular interest relates to the clinical and biological effects of bone disease and malignancy in Gaucher disease. She is an author of over 150 papers in the area of macrophage biology and lysosomal Storage Disorders.


  • D. A Hughes, P Elliott , J Shah2, J Zuckerman, , G Coghlan, J Brookes, and  A Mehta Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa  In Press Heart (Epub 4 May 2007)
  • Barba-Romero MA, Deegan P, Giugliani R, Hughes D. Does geographical location influence the phenotype of Fabry disease in women in Europe? Clin Genet. 2010 Feb;77(2):131-40. PubMed PMID: 20096069
  • Hughes DA, Ramaswami U, Barba Romero MÁ, Deegan P; FOS Investigators. Age adjusting severity scores for Anderson-Fabry disease. Mol Genet Metab. 2010 Oct-Nov;101(2-3):219-27. Epub 2010 Jun 22. PubMed PMID: 20691627.
  • Hughes DA, Barba Romero MÁ, Hollak CE, Giugliani R, Deegan PB. Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS-the Fabry Outcome Survey. Mol Genet Metab. 2011 Jul;103(3):207-14. Epub 2011 Mar 31. PubMed PMID: 21543245
  • Ebrahim HY, Baker RJ, Mehta AB, Hughes DA. Functional analysis of variant lysosomal acid-glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293T). J Inherit Metab Dis. 2012Mar;35(2):325-34. Epub 2011 Oct 5. PubMed PMID: 21972175.
  • Elliot P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB, Hughes DA, Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry disease survey. on behalf of ACES study group. . Heart. 2011Dec;97(23):1957-60. Epub 2011 Sep 2. PubMed PMID: 21890869.
  • Hughes DA, Malmenäs M, Deegan PB, Elliott PM, Ginsberg L, Hajioff D, IoannidisAS, Orteu CH, Ramaswami U, West M, Pastores GM, Jenkinson C; on behalf of the FOSInvestigators. Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet. 2012 Mar;49(3):212-220. Epub 2012 Feb 7.PubMed PMID: 22315436.
  • Thomas AS, Mehta AB, Hughes DA. Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis. 2013 Mar;50(3):212-7. doi: 10.1016/j.bcmd.2012.11.004. Epub 2012 Dec 6. PubMed PMID:23219328.
  • Hughes DA, Deegan PB, Milligan A, Wright N, Butler LH, Jacobs A, Mehta AB. A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease. Mol Genet Metab. 2013 Jul;109(3):269-75. doi: 10.1016/j.ymgme.2013.04.015. Epub 2013 Apr 28. PubMed PMID: 23702393.
  • Reed M, Baker RJ, Mehta AB, Hughes DA. Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease. Blood Cells Mol Dis. 2013 May 23. doi:pii: S1079-9796(13)00086-7. 10.1016/j.bcmd.2013.04.006. [Epub ahead of print] PubMed PMID: 23707505.
  •  Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. Germain DP, Hughes DA, et al. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. PubMed PMID: 27509102.
  • Gaucher Disease in Bone: From Pathophysiology to Practice. Derralynn Hughes et al J Bone Miner Res. 2019 Jun; 34(6): 996–1013.  . doi: 10.1002/jbmr.3734 PMCID: PMC6852006
  •  Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation L. Lavalle, A. S. Thomas, .. D. A. Hughes PLoS One. 2018; 13(4): e0193550.  PMCID: PMC5886405
  • Fabry disease and incidence of cancer Sarah Bird.., Derralynn Hughes Orphanet J Rare Dis. 2017; 12: 150. Published online 2017 Sep 6. doi: 10.1186/s13023-017-0701-6 PMCID: PMC5588622
  • Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study Derralynn A Hughes et al J Med Genet. 2017 Apr; 54(4): 288–296.   PMCID: PMC5502308