UCL Great Ormond Street Institute of Child Health


Prof Shamima Rahman

My Mitochondrial Research Group at the UCL Institute of Child Health is currently active in the following research areas:
Identification of novel nuclear genes causing mitochondrial disease
Using a combined homozygosity mapping, whole exome sequencing and integrative genomics approach we have identified a number of nuclear genes causing childhood-onset mitochondrial disorders, including genes involved in complex I function, biosynthesis of coenzyme Q10 and maintenance and expression of the mitochondrial genome. We are currently using exome sequence analysis to define the genetic basis of the following subgroups of mitochondrial disease:

  • isolated complex I deficiency
  • isolated complex IV deficiency
  • multiple respiratory chain deficiencies
  • children with a strong clinical, radiological or pathological suspicion of mitochondrial disease, but normal muscle respiratory chain enzyme activities

Genetic susceptibility to aminoglycoside-mediated ototoxicity

We demonstrated that 1 in 500 UK children carries a mitochondrial DNA mutation, m.1555A>G, that confers exquisite sensitivity to aminoglycoside-mediated ototoxicity. More recently we have shown that, in the absence of aminoglycoside exposure, normal hearing can be  maintained until at least 44 years in affected individuals. This work is part of an ongoing collaboration with Professor Maria Bitner-Glindzicz at ICH, and we are now investigating the burden of m.1555A>G-related deafness in survivors of extreme prematurity, the MitoGent study (with Professor Neil Marlow at UCLH), as well as investigating the molecular mechanisms underpinning deafness in affected individuals.

Small molecule treatment of mitochondrial disease

Current PhD projects in the Mitochondrial Research Group are investigating mechanisms and treatment of coenzyme Q10 deficiency (in collaboration with Dr Iain Hargreaves at the National Hospital for Neurology) and central folate deficiency (with Professor Simon Heales at Great Ormond Street Hospital). These are potentially exciting developments in an area of medicine where there are currently very few effective treatment options.

Current members of the Mitochondrial Research Group at ICH

Postdoctoral research associates

Dr Elisa Fassone

Dr Rojeen Shahni

Clinical research fellow

Dr Yehani Wedatilake

PhD students

Sophie-Beth Aylett

Marta Kanabus

Mary O'Sullivan

Award year Qualification Institution
2011 FRCP
Fellow of the Royal College of Physicians
Clinical Medicine
Royal College of Physicians
Fellow of the Royal College of Paediatrics and Child Health
Royal College of Paediatrics and Child Health
2002 PhD
Doctor of Philosophy
Molecular Medicine
University College London
1991 MRCP
Member of the Royal College of Physicians
Clinical Medicine
Royal College of Physicians
1988 BM BCh
Bachelor of Medicine & Bachelor of Surgery
Clinical Medicine
University of Oxford
1985 BA Hons
Bachelor of Arts (Honours)
Physiological Science
University of Oxford

I trained in Medicine at the University of Oxford (1988) 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 (1993). On returning to England in 1994 I completed paediatric training at the John Radcliffe Hospital, Oxford, before taking up a Medical Research Council Clinical Training Fellowship at the Institute of Child Health, London, to undertake a PhD entitled 'The Molecular Basis of Cytochrome c Oxidase Deficiency in Childhood'. I completed specialist training in paediatric metabolic medicine during a Clinical Lectureship at the UCL Institute of Child Health (from 2000). In 2006 I was awarded a DH/HEFCE Best Research for Best Health Clinical Senior Lectureship and in 2011 I was promoted to Reader. I hold honorary consultant appointments at Great Ormond Street Hospital and the National Hospital for Neurology, Queen Square, London, where I see children and adults affected by mitochondrial diseases as part of the NHS Specialised National Clinical Service for Rare Mitochondrial Disorders.


Mitochondrial disorders: diagnosis & treatment|*|Natural history of mitochondrial disorders