Paul Gissen is the Head of “Genetics and Genomic Medicine” Department at the UCL GOS Institute of Child Health and Honorary Consultant in Paediatric Metabolic Diseases at Great Ormond Street Hospital for Children NHS Foundation Trust. He leads “Gene, Stem and Cell Therapies” theme of the GOSH and GOS ICH Biomedical Research Centre.

Having obtained his medical degree with commendation from the University of Glasgow in 1995, Paul completed his Paediatrics training at Manchester, Sheffield and Birmingham Children’s hospitals specializing 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 Lipofuscinoses (NCL).

Paul relocated to UCL Institute of Child Health and Great Ormond Street Hospital for Children in 2011 and was appointed a Clinical Professor of Paediatric Metabolic Medicine in 2013.

The aim of Prof Gissen’s research is to improve disease understanding and treatment of Inherited Metabolic Disorders (IMD).

During his PhD and postdoctoral research Paul focused on the genetics and molecular mechanism of Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, a multi-system disorder with wide range of clinical problems including bleeding, cholestasis, bone and kidney disease. He discovered a novel protein complex that regulates intracellular trafficking of proteins, establishment of cell polarity and organellar biogenesis. The work funded by many different competitive grants allowed his group to publish extensively in this field (Gissen et al, Nat Genetics, 2004, Cullinane et al, Nat Genetics, 2010, Bem et al, Blood, 2015, Banushi at el. Nat Comms, 2016, Hanley et al, Journal of Hepatology, 2017).

Over the past 10 years he developed an interest in development of novel therapies for metabolic disorders. As well as ARC syndrome he is leading or collaborating on various translational laboratory and clinical projects developing genetic therapies in several disorders. Paul has been one of four investigators in the clinical trial of cerliponase alfa, an enzyme replacement therapy in CLN2 type NCL.