Shamima Rahman

• Mitochondrial diseases
• Neurometabolic diseases
• Disorders of B vitamin metabolism

BMBCh Oxford University

MA Oxford University

PhD University College London

FRCP Royal College of Physicians

FRCPCH Royal College of Paediatrics and Child Health

Professor Rahman trained in Medicine at Oxford University, in Paediatrics at the Royal Hospital for Sick Children in Bristol and John Radcliffe Hospital in Oxford, and in Paediatric Metabolic Medicine at Great Ormond Street Hospital, including a year’s research exchange at the Murdoch Children’s Research Institute of the Royal Hospital for Children, Melbourne, Australia. Professor Rahman completed her PhD on “The Molecular Basis of Cytochrome c Oxidase Deficiency in Childhood” at University College London.

Professor Rahman established the Mitochondrial Research Group at the UCL Institute of Child Health in 2000 after completing her PhD studies. The focus of her research group is to improve the outcomes for children affected by mitochondrial and other rare metabolic diseases by discovering novel disease genes, developing new diagnostic approaches, and investigating novel pharmacological and genetic therapeutic options where there are currently no disease-modifying treatments. She has authored more than 200 original research papers and book chapters.

Professor Rahman is Editor in Chief of the Journal of Inherited Metabolic Disease, a Council Member of the Society for Study of Inborn Errors of Metabolism, and a Senior Editor of the Annals of Human Genetics. She sits on the Medical Advisory Boards of the Lily Foundation and the Freya Foundation, is a member of the Medical Research Council Clinical Training Panel, is an Assessment Advisor on Paediatric Metabolic Medicine to the Royal College of Paediatrics and Child Health, and acts as a special adviser to the UK’s Human Fertilisation and Embryology Authority.

1. Thomas RH, Hunter A, Butterworth L, Feeney C, Graves TD, Holmes S, Hossain P, Lowndes J, Sharpe J, Upadhyaya S, Varhaug KN, Votruba M, Wheeler R, Staley K, Rahman S. (2022) Research priorities for mitochondrial disorders: Current landscape and patient and professional views. J Inherit Metab Dis. 45(4):796-803. PMID: 35543492.
2. Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF. (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400.
3. 100,000 Genomes Project Pilot Investigators, et al. (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 385(20):1868-1880. PMID: 34758253.
4. Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. (2021) Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Ann Clin Transl Neurol. 8(11):2155-2165. PMID: 34662929.
5. Hay E, Wilson LC, Hoskins B, Samuels M, Munot P, Rahman S. (2021) Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency. Eur J Hum Genet. 29(10):1536-1541. PMID: 34285383.
6. Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. (2021) Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Neurol Genet. 2021 Jun;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun. PMID: 34056100.
7. Ferreira CR, Rahman S, Keller M, Zschocke J. (2021) An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 44(1):164-177. PMID: 33340416.
8. Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. (2020) Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. Am J Hum Genet. 106(2):256-263. PMID: 32004446.
9. Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques TS, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. (2020) The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genet Med 22(1):199-209. PMID: 31462754.
10. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. (2020) Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. J Inherit Metab Dis. 43(4):726-736. PMID: 32391929.

• Assessment Advisor on Paediatric Metabolic Medicine, Royal College of Paediatrics and Child Health
• Editor in Chief, Journal of Inherited Metabolic Disease
• Council Member, Society for Study of Inborn Errors of Metabolism
• Senior Editor, Annals of Human Genetics
• Medical Advisory Board, Lily Foundation
• Medical Advisory Board, Freya Foundation
• Member, Medical Research Council Clinical Training Panel
• Special Advisor, UK Human Fertilisation and Embryology Authority