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Dr Bridget Bax

Reader in Rare Diseases
Research into the molecular basis of rare diseases and development of therapies for their treatment

Dr Bridget Bax is a Reader in Rare Disease at St. George’s University of London and Deputy Head of Cell Biology, based in the Institute of Molecular and Clinical Sciences. Her research focuses on the understanding the molecular mechanisms that underlie rare diseases and on the development of cell-based therapies for their treatment. Dr Bax has a particular interest in the ultra-rare disease, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).


Dr Bax graduated with a B.Sc. (Hons) in Biochemistry from Royal Holloway, University of London before joining the Institute of Obstetrics and Gynaecology, University of London as a Research Biochemist. She then joined the Royal Postgraduate Medical School, University of London as a Research Assistant and obtained her Ph.D. in Medicine, where she developed a two-sided human trophoblast model for studying the trans-trophoblast transport of amino acids.  After a postdoctoral position at St George's, University of London, she was appointed Senior Research Fellow in 2002 when she started as an independent researcher in the area of rare inherited metabolic diseases.

She was appointed as a Reader in Rare Diseases in 2013. Dr Bax also serves as a visiting professor in the School of Human Sciences at London Metropolitan University, London.


Membership of Professional Societies and Committees

Dr Bax is a member of the Biochemical Society, the Society for the Study of Inborn Errors of Metabolism, the International Society for Extracellular Vesicles, and is an elected Fellow of the Royal Society of Biology (Chartered Biologist).

Dr Bax is a serving member on a number of committees including the Research Degrees Committee; St George’s University Research Ethics Committee and Virtual Panel for PhD examiner approval. She contributes to the non-academic, patient-based community in her role as a committee member of Purine Metabolic Patients Association, a registered charity that aims to advance education about purine and pyrimidine metabolic disorders to professionals and the public. She also advises Metabolic Support UK on the scientific content of information provided to patients.

Dr Bax is a former Member of the Scientific and Medical Board for Erytech Pharma, France (2013-2018) and a member of the Rare Renal Disease Group, Uromodulin / Urate Nephropathies (2014-2018).


Professional Honours and Recent Invitations

Editorial Board member for the Archives of Science and for the International Journal of Personalized Medicine.

Invited Speaker: Recordati Rare Diseases Foundation course, Mitochondrial Medicine 30 years on: state of the art, Nice, April 2019.

Invited to participate at the International Centre for Parliamentary Studies Rare Diseases Europe 2018 Roundtable, Brussels, October 2018.

Invited to participate at the International Consensus Conference on Diagnosis and Treatment of MNGIE, Bologna, 2019.

Dr Bax specialises in the field of rare diseases.

A rare disease is defined in the European Union as a disorder that affects fewer than five individuals in 10,000 of the population. Globally there are over 350 million individuals affected by one of the seven to eight thousand rare diseases but to date there are only around 400 licenced treatments available. A majority of patients with rare diseases experience diagnosis delays and have life-threatening disorders. For many diseases, there is a deficit of medical and scientific knowledge.

The research focus of Dr Bridget Bax and her team is two-fold: firstly to improve the understanding of the underlying pathogenic mechanisms of rare inherited diseases and secondly, to develop cell-based therapies for the treatment of diseases with unmet needs. Currently the team are studying the ultra-rare disease, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive metabolic disorder caused by mutations in the gene (TYMP) which encodes for thymidine phosphorylase, an enzyme involved in the pyrimidine salvage pathway.

The the use of patient-derived induced pluripotent stem cell (iPSCs) technology, the team have developed neuronal cell lines and three dimensional organoid culture models of MNGIE for studying the molecular mechanisms involved in the neuronal aspects of the disease. Another area of research is the application of expression profiling and bioinformatics analyses in the identification and validation of miRNA biomarkers in patient body fluids for providing a means of understanding the molecular mechanisms of the disease and for monitoring responses to therapy

The team have developed the autologous erythrocyte as a vehicle for delivering enzyme replacement therapies and other therapeutic proteins. The encapsulation technology has the advantage of prolonging the circulatory half-life of proteins, minimizing immunogenic reactions and negating the need for expensive chemical modification.  Dr Bax conceptualized the introduction of erythrocyte-mediated enzyme replacement therapy into the clinical setting in 1995 through the treatment of an adult patient with adenosine deaminase deficiency. She managed a contract with the Hampshire Primary Care Trust on behalf of the South of England Specialised Commissioning group for 18 years for the treatment this patient.

Dr Bax subsequently applied this platform technology to the compassionate treatment of patients with MNGIE, in the form of erythrocyte encapsulated thymidine phosphorylase (EE-TP). Orphan Drug Designation was granted for EE-TP by the Food and Drug Administration (USA) and European Medicines Agency.  The clinical development of EE-TP is currently funded by the MRC, in partnership with Orphan Technologies, to whom the technology is exclusively licensed to. Approval for running a clinical trial of EE-TP in the UK was recently granted by the Medicines and Healthcare products Regulatory Agency (MHRA). Efforts are in progress to extend trials to other European countries. Three patents for the treatment of MNGIE are filed in the UK, Europe and the USA.

Current Funding

Validation of a serum microRNA panel for predicting the treatment efficacy of an enzyme replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy.  BE Bax & M Levene. The Lily Foundation, 2018-2020, £36,796.


RNA-Sequencing and bioinformatic analysis of iPSC-derived cerebral organoids generated from patients with MNGIE. BE Bax. PUMPA, 2018-2019, £12,505.


MICA. Clinical development of erythrocyte encapsulated thymidine phosphorylase - a therapy for mitochondrial neurogastrointestinal encephalomyopathy.  BE Bax, NF Moran, P Sedgwick & MD Bain. Medical Research Council, 2014-2021, £3,330,591 & Orphan Technologies, 2014-2021, £3,330,591.


Recent Funding

Prevention of red blood cell sickling in sickle cell disease.  BE Bax. Research England Innovation Awards, 2018-2019, £18,019.


Prevention of red blood cell sickling. BE Bax. Orphan Technologies, Postdoctoral bridging salary, March- December 2018.


Pilot miRNA expression profiling of serum from patients with MNGIE. BE Bax. PUMPA, 2017-2018,   £10,000.


The development of an induced pluripotent stem cell model for investigating the underlying molecular mechanisms that contribute to the neuronal aspects of Mitochondrial Neurogastrointestinal Encephalomyopathy.  BE Bax. PUMPA, PhD studentship, 2014-2018, £142,133.


Characterisation of reprogrammed MNGIE organoids. BE Bax. Neopharm, Equipment grant, 2015, £17,500.


Erythrocyte encapsulated adenosine deaminase (EE-ADA) therapy. BE Bax. South of England Specialised Commissioning Group, 2012-2013, £199,884.


An investigation into the underlying molecular mechanisms of mitochondrial neurogastrointestinal encephalomyopathy. BE Bax. PUMPA, PhD studentship, 2012-2017, £112,101.


Exosomes as biomarkers of MNGIE. BE Bax. PUMPA, Equipment grant 2012-2013. £40,000.


Pre-clinical safety studies of erythrocyte encapsulated thymidine phosphorylase. BE Bax, MD Bain, & NF Moran. Medical Research Council, 2010-2012, £790,000.


Identification of potential plasma biomarkers for monitoring disease progression and treatment efficacy in MNGIE. BE Bax. Higher Education Funding Council for Britain, 2010-2011, £14,280.


Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with Mitochondrial neurogastrointestinal encephalomyopathy. BE Bax, MD Bain, & NF Moran. United Mitochondrial Disease Foundation, 2008-201, $116,428.


Thymidine phosphorylase for therapeutic use. BE Bax. PUMPA, 2007-2008. £7,000.


Carrier erythrocyte entrapped native ADA therapy. BE Bax & MD Bain. Mid Hampshire Primary Care Trust, 2006-2012, £1,057,271.


The carrier erythrocyte as an antigen delivery vehicle for the enhancement of the immune response. BE Bax, RA Chalmers, & MD Bain. Biotechnology and Biological Sciences Research Council, 2002-2005, £206,796.


Carrier erythrocyte-mediated native ADA therapy for the treatment of SCID due to adenosine deaminase deficiency. BE Bax & MD Bain. North and Mid Hampshire Health Authority, 2003-2008, £626,738.


Clinical evaluation of carrier erythrocyte entrapped adenosine deaminase in a named patient. RA Chalmers R.A, BE Bax & MD Bain. North and Mid Hampshire Health Authority, 1999-2004, £454,949.

Research Group

Dr Bax works with Dr Michelle Levene, post-doctoral Research scientist and Dr Niranjanan Nirmalananthan, team Consultant Neurologist.


Academic collaborations

Dr Bax’s academic collaborators include:

Dr Caterina Garone, Universita degli Studi di Bologna: Bologna, Emilia-Romagna, Italy (MNGIE).

Dr Lynette Fairbanks, Purine Research Laboratories, St Thomas' Hospital London, UK (EE-TP project).

Dr Mauro Scarpelli, Institute of Neurology, University of Verona, Italy (EE-TP project).

Professor Massimiliano Filosto, Centre for Neuromuscular Diseases, University Hospital "Spedali Civili", Brescia, Italy  (EE-TP project).

Professor Sema Kalkan Uçar, Division of Inborn Error of Metabolism, Ege University Medical Faculty, Izmir, Turkey (EE-TP and biomarker projects).

Professor Shamima Rahman, Mitochondrial Research Group, UCL London Great Ormond Street Institute of Child Health and Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK (EE-TP project).

Professor Agathe Roubertie, Department of Pediatric Neurology, Centre Hospitalier Universitaire de Montpellier, Montpellier, France (EE-TP and biomarker projects).

Professor Hanna Mandel, Galilee Medical Center, Nahariya, Israel (EE-TP and biomarker projects).

Dr Rachel Pearson, Northern Centre for Cancer Care, The Newcastle upon Tyne Hospitals NHS Foundation Trust (FLT PET-CT imaging project).

Dr Elizabeth Rhodes, St. George’s University Hospitals NHS Foundation Trust (Sickle cell project).

Professor Joanna Poulton, Nuffield Department of Women’s and Reproductive Health, University of Oxford (Biomarker project).

Dr Sebastian Schulz-Jürgensen, Pädiatrische Gastroenterologie, Hepatologie und Lebertransplantation, Hamburg, Germany (Biomarker project).

Dr Georg Kutschke, Ärztliche Leitung Bereich Neuropädiatrie und Entwicklungsneurologie – Universitätsmedizin Mannheim, Germany (Biomarker project).

Dr Rita Beier, Children's Hospital III, University Hospital Essen, Germany (Biomarker project).

Dr Heinz Zoller, Medizinische Universität Innsbruck, Innsbruck, Austria (Biomarker project).

Professor Ramon Martí, Vall d'Hebron Institut de Recerca, Barcelona, Spain (EE-TP and biomarker projects).

Professor Michio Hirano, Columbia University Medical Center, New York, USA (Biomarker project).


Industry collaborators

Dr Bax's industry collaborators include  Orphan Technologies, Erydel, Diatheva and Renaclinical.

Dr Bax teaches BSc Biomedical Science and Intercalating MBBS students through the delivery of lectures on the Personalised Medicine and Clinical Neurosciences Modules in the areas of cellular therapies, stem cells and neuro-regeneration. She provides library-based Independent Study Projects and supervises laboratory-based third year research projects.

Dr Bax is Postgraduate Coordinator for MPhil/PhD students in the Molecular and Clinical Sciences Research Institute. She also teaches on the Graduate School Skills Programme and supervises PhD students.

Dr Bax is a personal tutor for BSc Biomedical Sciences and MBBS students.

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