UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health

Prof Shamima Rahman

Prof Shamima Rahman

Professor of Paediatric Metabolic Medicine

Genetics & Genomic Medicine Dept

UCL GOS Institute of Child Health

Joined UCL
1st Apr 2002

Research summary

The Mitochondrial Research Group at the UCL Great Ormond Street Institute of Child Health focuses on enhancing the outcomes for children with mitochondrial and other metabolic diseases by discovering mitochondrial disease genes, developing novel computational diagnostic strategies, and investigating therapeutic approaches where there are currently very limited, effective treatments. This work is leading to improved diagnosis and management.

The Mitochondrial Research Group's work currently focusses on the development of novel therapies for mitochondrial disease, whilst continuing our efforts to find new genetic causes and mechanisms for mitochondrial disorders presenting in childhood.

Molecular basis of mitochondrial disease

We have conducted a long-term project that has identified novel nuclear genes and gene variants responsible for human mitochondrial disease using an 'integrative genomics' approach. This includes detailed clinical and biochemical characterisation of patients (deep phenotyping), homozygosity mapping by high-throughput genotyping in consanguineous families, sequence analysis of candidate genes, high throughput 'next generation' sequencing methods, developing novel bioinformatics pipelines, and establishing multiple functional studies to prove pathogenicity of many disease-causing mutations identified in our laboratory. Using this approach we have discovered new disease genes, including a complex I assembly factor and genes needed for mitochondrial DNA maintenance, coenzyme Q10 biosynthesis and mitochondrial homeostasis. We have also elucidated new disease mechanisms such as our discovery that the JAK-STAT cytokine STAT2, a component of innate immunity, is a critical factor governing mitochondrial dynamics. We are now using multi-omics to investigate further the disease mechanisms underpinning the phenotypic complexity of mitochondrial diseases.

We have provided genetic diagnoses for hundreds of families referred from Great Ormond Street Hospital and further afield. This has increased the diagnostic rate from 5% 20 years ago to currently ~70% in a research setting. Gene discovery provides new insight into disease aetiology, which facilitates the development of new targeted therapies in the longer term.

Developing novel therapies

We have evaluated a number of small molecule therapies for mitochondrial disease, including vitamins and cofactors, decanoic acid, and nonsense readthrough agents. We are now commencing a gene therapy programme for these disorders.

Current members of the Mitochondrial Research Group at ICH

Postdoctoral research associate

Dr Elaina Maldonado

Clinical research fellow

Dr Nandaki Keshavan

PhD student

Joyeeta Rahman

Teaching summary

Professor Rahman is a Training Advisor to the Royal College of Paediatrics and Child Health. She is also a founding member of and currently Senior Advisor to the Education and Training Committee (ETAC) of the Society for the Study of Inborn Errors of Metabolism (SSIEM). She has been a key member of the ETAC committee delivering 11 annual SSIEM Academies since ETAC’s inception in 2008. This is a 4 year rolling programme which has trained physicians and biochemists from more than 50 countries across the globe in inherited metabolic disease.

Professor Rahman regularly lectures on the following UCL BSc and MSc courses:

BSc/MSc Principles of Mitochondrial Physiology and Pathophysiology CELL 3007 Module, UCL

MSc Clinical Genomics, Genetics and Rare Diseases CHLDGX05 Module, ICH

MSc Cardiovascular Science Cardiovascular Genetics module, UCL

MSc/MRes Neuromuscular Disease programme, Skeletal muscle and associated diseases module, Institute of Neurology

MSc Genomic Medicine Genomics of Common and Rare Inherited Diseases Module, QMUL

Professor Rahman has taught on the annual Practical Neurology Study Days at the UCL Great Ormond Street Institute of Child Health since 1997, and has been invited to give more than 100 national and international lectures during her career.


Royal College of Physicians
Doctorate, Fellow of the Royal College of Physicians | 2011
Royal College of Paediatrics and Child Health
Doctorate, Fellow of the Royal College of Paediatrics and Child Health | 2008
University College London
Doctorate, Doctor of Philosophy | 2002
Royal College of Physicians
Doctorate, Member of the Royal College of Physicians | 1991
University of Oxford
Doctorate, Bachelor of Medicine & Bachelor of Surgery | 1988
University of Oxford
First Degree, Bachelor of Arts (Honours) | 1985


Professor Shamima Rahman is an international authority on paediatric metabolic diseases and founded and has run the Mitochondrial Research Group at the UCL Great Ormond Street Institute of Child Health since 2000. Professor Rahman trained in Medicine at the University of Oxford and in Paediatrics at the Royal Hospital for Sick Children, Bristol and Great Ormond Street Hospital, London before taking up a Royal Children's Hospital Research Foundation Scholarship at the Murdoch Institute, Melbourne, Australia. On returning to England she completed paediatric training at the John Radcliffe Hospital, Oxford and a Medical Research Council Clinical Training Fellowship at the Institute of Child Health, London (PhD entitled "The Molecular Basis of Cytochrome c Oxidase Deficiency in Childhood") before establishing the Mitochondrial Research Group. She was promoted to Professor in 2014.

Professor Rahman is clinically active, working as an honorary Consultant at Great Ormond Street Hospital for Children, London, where she has a special focus on children affected by primary mitochondrial diseases.

Professor Rahman is an Editor of the Journal of Inherited Metabolic Disease, a Senior Editor of the Annals of Human Genetics and sits on the Scientific Advisory Board of the French Muscular Dystrophy Association (AFM-Telethon), the Australian Mitochondrial Disease Foundation’s Clinical and Scientific Review Panel, and the Medical Advisory Boards of the Lily Foundation and the Freya Foundation. She also acts as a special adviser to the Human Fertilisation and Embryology Authority.