Shamima Rahman

Shamima Rahman (born 1964) is a Nigeria-born British paediatrician, scientist, and academic. She is the professor of paediatric metabolic medicine at the University College London Great Ormond Street Institute of Child Health and an honorary consultant at Great Ormond Street Hospital, London. Her research focuses on elucidating the genetic basis for paediatric mitochondrial and rare metabolic diseases, and developing novel pharmacological and genetic therapies to address these currently incurable disorders.

Rahman's intake at NGHS coincided with the termination of the Direct Grant Scheme under which a quarter of enrolments in the England and Wales secondary schools were directly funded by the central government. Despite NGHS choosing to become independent, Rahman secured a full scholarship to attend the school. She travelled to NGHS by bus, and was unable to participate in after-school extracurricular activities owing to the long commute. Rahman credits her mother was encouraging her to pursue medicine. The school supported her preparation for Oxbridge.

Rahman returned to England in 1994 and completed her paediatric training at the John Radcliffe Hospital, Oxfordshire before joining the Medical Research Council clinical training fellowship at the UCL Great Ormond Street Institute of Child Health (UCL ICH), London to undertake a PhD in molecular medicine. She studied the molecular basis of cytochrome c oxidase deficiency in childhood under the expert supervision of James Leonard and Anthony Schapira. She also received additional funding for her doctoral thesis work from Children Living with Inherited Metabolic Diseases (formerly known as Research Trust for Metabolic Diseases in Children). She was subsequently promoted to reader at UCL ICH and then professor in 2014. She was selected for two fellowships at the Royal College of Paediatrics and Child Health and Royal College of Physicians in 2008 and 2011 respectively.

She runs the Mitochondrial Research Group at UCL ICH that focuses on improving the "outcomes for children with mitochondrial and other metabolic diseases" through the discovery of mitochondrial disease genes, development of novel computational diagnostic strategies and therapeutic approaches in the absence of effective treatments. A number of small molecule therapies for mitochondrial disease have also been evaluated, including vitamins and cofactors, decanoic acid, and nonsense readthrough agents; the Group is in the process of developing a gene therapy programme to address these disorders. Rahman currently leads an National Institute for Health and Care Research (NIHR)-funded study on ClinGen gene curations and contributes to ClinVar variant curations for primary mitochondrial diseases.

Since its inception, the projects undertaken by the Group have provided genetic diagnoses for hundreds of patients referred from and beyond GOSH, leading to an increased diagnostic rate in a research setting (from 5 percent 20 years ago to approximately 70 percent in the present day).

Other engagements She is the editor-in-chief of Journal of Inherited Metabolic Disease (JMID) and JIMD Reports, and a senior editor of Annals of Human Genetics.

She was part of the UCL ICH team that received the Equality Challenge Unit (ECU)'s Athena SWAN charter Silver award in 2013.

Selected publications Keegan, Anna; Cetin, Ozge; Chilcott, Ellie M.; Diaz, Juan Antinao; Eaton, Simon; Waddington, Simon N.; Counsell, John R.; Rahman, Shamima; Karda, Rajvinder (2025-08-01), Next Generation AAV-F Capsid gene therapy rescues disease pathology in a model of Pyruvate Dehydrogenase Complex Deficiency, bioRxiv, doi:10.1101/2025.07.30.667478, retrieved 2025-09-14 Zhang, Fangfang; Dorn, Tatjana; Gnutti, Barbara; Anikster, Yair; Kuebler, Sarah; Ahrens-Nicklas, Rebecca; Gosselin, Rachel; Rahman, Shamima; Durst, Ronen; Zanuttigh, Enrica; Güra, Miriam A.; Poch, Christine M.; Meier, Anna B.; Laugwitz, Karl-Ludwig; Schüller, Hans-Joachim (2025-07-31). "Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models". Communications Medicine. 5 (1): 323. doi:10.1038/s43856-025-01017-z. ISSN 2730-664X Gregory, L. C.; Krywawych, S.; Rahman, S.; Lagos, Carlos F.; Eaton, S.; Dattani, M. T. (2025-07-01). "A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN)". Metabolism - Clinical and Experimental. 168. doi:10.1016/j.metabol.2025.156256. ISSN 0026–0495. PMID 40185395. Rahman, Shamima; Baruteau, Julien (2025). "First in Human Gene Editing for an Inherited Metabolic Disease". Journal of Inherited Metabolic Disease. 48 (4): e70056. doi:10.1002/jimd.70056. ISSN 1573–2665. Ball, Megan; van Bergen, Nicole J.; Compton, Alison G.; Thorburn, David R.; Rahman, Shamima; Christodoulou, John (2025). "Therapies for Mitochondrial Disease: Past, Present, and Future". Journal of Inherited Metabolic Disease. 48(4): e70065. doi:10.1002/jimd.70065. ISSN 1573–2665. PMC 12301291. PMID 40714961.