Principal Investigators

Personal biography

Following a Diploma in Nursing studies in Moscow, I qualified in Medicine in 1995 at the University of Glasgow. After six years of general and paediatric training as a junior doctor in Glasgow, Manchester and Sheffield Hospitals, I studied for a PhD as a WellChild Clinical Research Training Fellow in Birmingham where I identified several genes responsible for childhood diseases. Following this I combined a GSK Research Fellowship at the University of Birmingham with clinical specialty training in metabolic diseases at Birmingham Children's Hospital. I was appointed Lecturer and then Senior Lecturer in Birmingham in 2008 before moving to UCL and Great Ormond Street Hospital where I became a Professor in 2013. In 2011 I became a Wellcome Trust Senior Fellow in Clinical Science.

Research biography

I began my research in 2001 investigating the molecular basis of childhood liver metabolic diseases. I became particularly interested in the mechanisms that traffic proteins to their correct destination inside the cells. My research has involved the identification of gene mutations responsible for childhood disorders, particularly those that involve protein mistrafficking in the liver and the brain.  

More recently I also become committed to developing and testing new treatments for inborn errors of metabolism diseases

Research group interests

We apply imaging and biochemical methods to disease models in order to improve understanding and develop treatments in IEMs and specifically intracellular trafficking disorders. A major part of work is studying the function of VPS33B and VIPAR proteins that are involved in a severe multi-system disorder Arthrogryposis, Renal Dysfunction and Cholestasis syndrome. We also are working on developing treatments in this disorder. We closely collaborate with other groups in CIEM to develop gene therapy approach to treatment of inborn errors.  

Personal biography

I studied medicine at King's College, Cambridge and University College Hospital, London. I trained as a paediatrician in various London teaching hospitals including the Professorial Medical Unit at Great Ormond Street which had a special interest in inborn errors of metabolism. My research training was undertaken in the Institute of Child Health where I developed techniques for identification and measurement of bile acids by gas chromatography and gas chromatography - mass spectrometry. I was appointed Metabolic Consultant at Great Ormond Street in 1987 and Professor of Paediatric Metabolic Disease and Hepatology in the UCL Institute of Child Health in 1998. I have been awarded several international prizes for research including the Horst Bickel award. I am currently Chairman of the Society for the Study of Inborn Errors of Metabolism (SSIEM).

Research biography

I have contributed to the discovery of disorders of bile acid synthesis, peroxisomal disorders, disorders of cholesterol synthesis, disorders of neurotransmitter amine synthesis, disorders of fatty acid oxidation, congenital disorders of glycosylation, disorders of amino acid metabolism, disorders of vitamin B6 metabolism, disorders of manganese homeostasis. I have introduced several new treatments such as bile acid replacement for inborn errors of bile acid synthesis, pyridoxal phosphate for pyridoxamine phosphate oxidase deficiency, chelation treatment for inborn errors of manganese homeostasis. I have also demonstrated the role of phytosterols in causing parenteral nutrition-associated liver disease which has contributed to the introduction of intravenous lipid emulsions less likely to cause this serious complication of intravenous feeding.

Publication record (Scopus): 206 papers, 6982 citations, h-index 48

Research group interests

I work very closely with Philippa and Kevin Mills. We are currently working on a new disorder of B6 metabolism, a new bile acid synthesis disorder, a new peroxisomal disorder and new methods for diagnosis of Niemann-Pick C disease. We are investigating the use of next generation sequencing for the rapid diagnosis of inborn errors metabolism and for the discovery of new disorders. We are trying to improve treatment of the B6-responsive disorders.

Research biography

Kevin is a senior lecturer at UCL and an Honorary Clinical Scientist at Great Ormond Street Hospital.  He also heads the Biological Mass Spectrometry Centre at the UCL Institute of Child Health which includes proteomic, metabolomic and lipidomic mass spectrometry capability. His laboratory is unique in that it can develop any diagnostic marker found in the 'omic' wings of the facility into rapid, multiplexed, diagnostic medical tests in the targeted mass spectrometry section.

Kevin's 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. His group was responsible for the development of a new, quicker and the gold standard test for the diagnosis of Fabry disease. This assay is used today both nationally and internationally for screening millions of patients for Fabry disease. 

Research Biography

I obtained my PhD (Biochemistry) from Aston University in 1987 and was made a Fellow of the Royal College of Pathologists in 2003. As well as being Head of Service for Laboratory Medicine at GOSH, I hold the UCL Chair of Clinical Chemistry and have a strong interest in the diagnosis and monitoring of patients with inherited metabolic disorders.  This work is underpinned by a number of basic and translational research projects that are carried out in conjunction with ICH. I am also the Laboratory Director of the Neurometabolic Unit at the National Hospital, Queen Square (UCLH Foundation Trust).

Publication record (Scopus): 192 papers, 8663 citations, h-index 48

Research group interests

The main focus of my group is the diagnosis, monitoring and identification of disease mechanisms relating to inherited neurometabolic conditions. There is a strong emphasis on translational research. Of particular interest is disorders of monoamine, lysosomal and mitochondrial metabolism. There is a strong translational research element to this work, in particular with the diagnostic laboratories at GOSH and the National Hospital, Queen Square, London.

Personal Biography

After graduating from the School of BioSciences at Cardiff University in 1991 I was awarded a PhD position at Cardiff and investigated the effects of herbicides on the synthesis of very long chain fatty acids in plants. I continued life as a post-doctoral plant biochemist at the Royal Holloway University investigating the biosynthesis of carotenoids and was involved in collaborative projects with Astra Zeneca. By this time I had developed many complementary translational skills and was determined to make my research more applicable to human disease and was recruited in 1999 to work as a senior post-doctoral fellow in the mass spectrometry unit at the Institute of Child Health, UCL. Here I began working in the field of inherited metabolic diseases. In 2010 I was awarded an NIHR BRC Research Fellowship and in 2011 I was appointed Lecturer at the Institute of Child Health.

Research Biography

I have been involved in establishing the genetic basis for several inherited metabolic disorders. The characterisation of the biochemical and genetic basis of these disorders has enabled us to develop translational diagnostic tests that allow clinicians to diagnose patients more rapidly, facilitate better monitoring of treatment and enable pre-natal diagnosis. I am particularly interested in those disorders that cause neurological disease especially the vitamin B6-dependent epilepsies and disorders of hypermanganesemia which result in a Parkinsonian-like movement disorder. Other metabolic disorders that I have worked on include the congenital disorders of glycosylation, inborn errors of bile acid metabolism, urea cycle disorders and the lysosomal storage disorders.

Research Group Interests

The aim of our research is to improve diagnosis and treatment for children with inherited metabolic disorders, primarily focusing on those disorders that cause neurological disease. We use our knowledge of the metabolic biochemical pathways in parallel with next generation sequencing methodologies to facilitate identification of candidate genes in patients, mutations in which are then investigated further in model systems. Greater understanding of metabolic disorders will enable identification of more effective treatments for these life-threatening diseases. We collaborate closely with Prof. Peter Clayton, Prof. Paul Gissen and Dr. Kevin Mills at UCL Institute of Child Health and have close links with the paediatric neurology and metabolic teams at Great Ormond Street Hospital (GOSH) whilst working alongside the Chemical Pathology Department and the Clinical Genetics Service at GOSH to develop translational tests for patient diagnosis.

Personal Biography

I studied Medicine and completed my paediatric training in Düsseldorf / Germany in 2001. I finished my doctoral thesis 2013 and commenced my subspeciality training in Inborn errors of metabolism. I trained in four leading European Metabolic Centers, including Düsseldorf / Germany, Nijmegen / The Netherlands, Leuven / Belgium and London / UK. I was appointed as Consultant in Metabolism at Great Ormond Street Hospital for Children in 2004. Prior to my appointment at GOSH, I worked as a Consultant in Neuropaediatrics with special interest in Metabolic Medicine at the University Hospital in Essen / Germany.

Research Biography

During my post-doctorial position funded by the Flanders Fund for Scientific Research at the Catholic University of Leuven / Belgium, my main clinical and basic research was focused on the emerging field of Congenital disorders of glycosylation (CDG). I was a Marie Curie Fellow at the University in Essen / Germany and completed the "Habilitation" in 2004. My PhD studies at the University of Nijmegen / The Netherlands on "Congenital Disorders of Glycosylation - Clinical and Molecular Studies" were completed in 2006. The research led to the discovery and in depth description of seven new CDG disorders and I developed a new diagnostic test that has led to the identification of over 30 new CDG disorders. I am an Honorary Senior lecturer at the Institute of Child Health at the University College London.

Research group interests

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). This work is done in close collaboration with K and P Mills and W Heywood. We work on new methods for diagnosis and disease monitoring. As partner of several networks, I am contributing to the description of natural courses 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. In my current position in GOSH and at the Institute for Child Health / UCL, I combine clinical and academic work on a broad spectrum of IMDs and I am chief - and co-investigator for various clinical trials.

NHNN team includes the following Consultants in Adult Metabolic Disorders: Drs Elaine Murphy and Robin Lachmann.

Further information can be obtained by visiting the University College London Hospitals website