UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health



Neurometabolic Disorders

The aim of Dr Philippa Mills' research is to improve diagnosis and treatment for children with inherited metabolic disorders, primarily focusing on those disorders that cause neurological disease. Her group has a particular interest in the vitamin B6-responsive epilepsies and disorders that result in abnormal manganese storage.

Liver and Brain Metabolism

Professor Peter Clayton is undertaking research into inborn errors that affect the brain and /or liver including disorders of bile acid and sterol metabolism and disorders of vitamin B6 metabolism. Mass spectrometry methods are used to identify and measure metabolites and gene sequencing to define gene mutations providing new diagnostic methods and new treatments.

Disease Biomarkers in Inherited Metabolic Disorders

Dr Kevin Mills' main interest is understanding the disease mechanisms underlying neurological and rare inborn errors of metabolism. His group's focus is on patient-driven, translational research which aims to establish rapid, sensitive methods to study, diagnose and monitor the treatment of patients from GOSH and the National Hospital for Neurology. Dr Mills is interested in defects in post-translational modification of proteins and lysosomal storage diseases particularly Fabry disease.


Dr Anna is a research associate working with Dr Kevin Mills and is funded by StemBancc EU Consortium. Her area of research is deep proteomic profiling of induced pluripotent stem cells, and development of targeted proteomic LC-MS/MS assays for pluripotency. Anna attained her PhD in 2014 in the field of structural proteomics at University of Evry, France, where she specialized in in-solution structural analysis of proteins combined with high-resolution mass spectrometry. She is a graduate in Biotechnology from West Pomeranian University of Technology in Poland.

Brain Lysosomal and Mitochondrial Function, Dopamine Metabolism

Professor Simon Heales' research is focused on improving the diagnosis, monitoring and treatment of inborn errors of neuro-metabolism. Particular emphasis is on disorders affecting brain dopamine, lysosomal and mitochondrial function. There is a strong translational element to his research and strong collaboration occurs with the accredited NHS laboratories of Great Ormond Street Hospital and the National Hospital, Queen Square, London.

Batten Disease

The aim of Dr Mole's research is to improve diagnosis, understanding and treatment for children and adults with inherited metabolic disorders, primarily focusing on neurological disease that includes lysosomal storage.

Her group has a particular interest in the group of diseases known as the neuronal ceroid lipofusinoses (Batten disease).

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Dr Barbara Csanyi works as a Clinical Research Fellow at Great Ormond Street Hospital. Her team and she is involved in a very exciting clinical trial: they do enzyme replacement therapy with children affected by late infantile type of Batten disease

Gene Therapy Tools

(Gene Transfer Technology Group - led by Dr Simon Waddington):

"Our aim is to develop gene therapy for early onset genetic diseases; we specialise in vector design and synthesis and their preclinical evaluation"


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Dr Julien Baruteau is a Research Training Fellow in the Gene Transfer Technology Group at University College London since 2013 and a Honorary Clinical Fellow in Metabolic Medicine, Great Ormond Street Hospital in London. Prior to this post, he trained in Toulouse, France where he graduated as Paediatrician in 2008. He specialised in Inherited Metabolic Diseases in Paris and Toulouse, France where he worked as a Locum Consultant during four years. He gained experience in Liver Cell Therapy in Metabolic Diseases in Pr Sokal's laboratory, Catholic University of Louvain, Brussels, Belgium in 2011. Since 2012 he has joined the Metabolic team in Great Ormond Street Hospital as a Clinical Fellow. In 2013, he performed a national survey in the UK about a urea cycle defect called argininosuccinic aciduria or argininosuccinate lyase deficiency, a rare inherited metabolic disorder. In order to improve patients'outcome, Action Medical Research supports his efforts to develop a gene therapy approach for this disease.

Gene Therapy for Paediatric Neurodegenerative Disorders

Dr Ahad Rahim's research focuses on developing novel therapies for paediatric neurological disorders such as Niemann-Pick type C disease, infantile neuroaxonal dystrophy and Gaucher disease. His group are interested in understanding the underlying disease mechanisms and developing gene therapy or novel small molecule drugs as a treatment. 

Genetic Causes of Childhood Neurological Diseases

Dr Manju Kurian's research group aims to identify the underlying genetic causes of childhood neurological diseases causing epilepsy and movement disorders. Her group uses cell and animal models to elucidate disease mechanisms and investigate novel treatment strategies.

Dr Stephanie Grunewald

My research focus is mainly clinical based and focuses on further characterization and defining the group of inborn errors of metabolism called congenital disorders of glycosylation (CDG) and description of natural history of inborn errors of metabolism with focus on organic acidaemias, urea cycle defects and galactosemia to improve patients' diagnosis, management and development of new treatments.