Prof Shamima Rahman

Professor of Paediatric Metabolic Medicine and Honorary Consultant


Professor Shamima Rahman holds an honorary consultant appointment at Great Ormond Street Hospital (GOSH) and the National Hospital for Neurology, London, where she sees children and adults affected by mitochondrial diseases as part of the NHS Specialised National Clinical Service for Rare Mitochondrial Disorders.  

Professor Rahman trained in medicine at the University of Oxford and in Paediatrics at the Royal Hospital for Sick Children, Bristol, and GOSH, before taking up a Royal Children's Hospital Research Foundation Scholarship at the Murdoch Institute, Melbourne, Australia.  

On returning to England in 1994 she completed paediatric training at the John Radcliffe Hospital, Oxford, prior to a Medical Research Council Clinical Training Fellowship at the UCL Great Ormond Street Institute of Child Health (ICH), to undertake a PhD entitled 'The Molecular Basis of Cytochrome Oxidase Deficiency in Childhood'. In 2000, she completed specialist training in paediatric metabolic medicine during a Clinical Lectureship at the ICH. 

In 2006 Professor Rahman was awarded a DH/HEFCE Best Research for Best Health Clinical Senior Lectureship.  


  • Paediatric metabolic medicine 
  • Mitochondrial disorders 

• BA (Hons) Physiological science from Oxford University 
• MA 
• BM BCh from Oxford University  
• PhD in molecular medicine 

• Fellow of the Royal College of Physicians 
• Fellow of the Royal College of Paediatrics and Child Health Member 
• British Medical Association Member 
• Society for the Study of Inborn Errors of Metabolism [SSIEM] 
• Member, Education and Training Advisory Committee of the SSIEM 
• Member, British Inherited Metabolic Disease Group 

• Nuclear genes for mitochondrial respiratory chain disorders in childhood 
• Complex I deficiency 
• Complex II deficiency  
• Multiple respiratory chain defects 
• Mitochondrial DNA maintenance disorders 
• Treatment of mitochondrial diseases 
• Coenzyme Q10 deficiency 
• Cerebral folate deficiency 

News & Publications

Shamima Rahman has written multiple publications including: 
Kanabus, M., Shahni, R., Saldanha, J. W., Murphy, E., Plagnol, V., Van't Hoff, W., . . . Rahman, S. 2015. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. Journal of Inherited metabolic Disease. 38 (2) pp.  211-219. 
Rahman, S. 2015. Emerging aspects of treatment in mitochondrial disorders. Journal of inherited metabolic disease. 
Pitceathly, R. D. S., Morrow, J. M., Sinclair, C. D. J., Rahman, S., Yousry, T. A., Hanna, M. G., . . . Davagnanam, I. 2015. Extra-ocular muscle MRI in genetically-defined mitochondrial disease. European Radiology. 
Fassone, E., Duncan, A. J., Taanman, J. W., Pagnamenta, A. T., Sadowski, M. I., Holand, T., . . . Rahman, S.2015. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Human molecular genetics. 
Lemonde, H., & Rahman, S. 2015. Inherited mitochondrial disease. Paediatrics and Child Health (United Kingdom), 25 (3), pp. 133-138. 
Falk, M. J., Shen, L., Navarro-Gomez, D., Gai, X., Gonzalez, M., Zuchner, S., . . . Wong, L. -. J. 2015. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics and Metabolism, 114 (3) pp. 388-396. 
O'Sullivan, M., Rutland, P., Lucas, D., Ashton, E., Hendricks, S., Rahman, S., & Bitner-Glindzicz, M. 2015. Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss. Hum Mol Genet, 24 (4), pp. 1036-1044. 
Raman, S., Peters, M. J., Klein, N., Kwan, A., Hubank, M., Rahman, S., & Rashid, A. 2015. Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children. Intensive Care Medicine. 
Broomfield, A., Sweeney, M. G., Woodward, C. E., Fratter, C., Morris, A. M., Leonard, J. V., . . . Rahman, S. 2015. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis, 38 (3), pp. 445-457. 
Hall, A. M., Vilasi, A., Garcia-Perez, I., Lapsley, M., Alston, C. L., Pitceathly, R. D., . . . Hanna, M. G. 2015. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int, 87 (3), pp. 610-622. 

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