Paul Gissen

paul gissen 2022

Paul Gissen has been a Clinical Professor in Paediatric Metabolic Medicine at the UCL GOS Institute of Child Health (GOS ICH) since 2013 and is an Honorary Consultant at Great Ormond Street Hospital for Children (GOSH). He also leads Gene and Stem Cell Therapies Theme at the GOSH and GOS ICH Biomedical Research Centre.

Having obtained his medical degree from the University of Glasgow in 1995, Paul completed his Paediatrics training at Manchester, Sheffield and Birmingham Children’s hospitals specialising in inherited metabolic disorders.

During his PhD at Birmingham University Paul identified genetic causes of several rare paediatric diseases and became interested in molecular and cellular basis of intracellular trafficking disorders such as Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, Niemann Pick type C disease and Neuronal Ceroid Lipofuscinosis.

Paul moved to UCL and GOSH in 2011 as a Wellcome Trust Senior Clinical Fellow.

His current research focus is on both laboratory and clinical development of novel therapies for children with rare diseases.


  • Paediatric Inherited Metabolic Disorders
  • Battens disease
  • Niemann Pick disease


  • (1995) MBChB University of Glasgow
  • (2005) PhD University of Birmingham
  • (2005-2008) Subspecialty training in Paediatric Metabolic Medicine
  • (2011) FRCPCH

Research Interests

Dr Gissen obtained his PhD in Human Molecular Genetics from the University of Birmingham investigating genetic causes of rare inherited paediatric metabolic disorders. He was successful at in identifying several novel disease-causing genes. His current research focus is on both laboratory and clinical development of novel therapies for children with rare diseases. More information about his current research can be found on the UCL website.


  1. Papandreou A, Doykov I, Spiewak J, Komarov N, Habermann S, Kurian MA, Mills PB, Mills K, Gissen P, Heywood WE. Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Clinical cohort recruitment and characterization group. Dev Med Child Neurol. 2022 Jul 14.
  2. Iwan K, Patel N, Heslegrave A, Borisova M, Lee L, Bower R, Mole SE, Mills PB, Zetterberg H, Mills K, Gissen P, Heywood WE. Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Res. 2021 Jul 20;10:614.
  3. Thompson DA, Handley SE, Henderson RH, Marmoy OR, Gissen P. An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy. Eye (Lond). 2021 Sep;35(9):2438-2448.
  4. Cozmescu AC, Counsell J, Gissen P. Gene therapies targeting the liver. J Hepatol. 2021 Jan;74(1):235-236.
  5. Seker Yilmaz B, Baruteau J, Rahim AA, Gissen P. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. Int J Mol Sci. 2020 Jul 17;21(14):5059.