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This page contains information about the Lewis Spitz Surgeon Scientist PhD Programme. Please note that the programme is currently closed. Future opportunities will be announced widely.
About the Lewis Spitz Surgeon Scientist PhD programme
The Lewis Spitz Surgeon Scientist PhD programme was established in 2017 and supported by the Great Ormond Street Hospital (GOSH) Charity and National Institute for Health and Care Research (NIHR) GOSH Biomedical Research Centre (BRC) to develop future surgeon scientist leaders with excellence in translational research.
The programme is driven by the need to increase capacity through training in the scientific basis of paediatric surgery, with a focus on treating children who suffer from congenital malformations, cancers and other conditions requiring surgery. The key aim of the scheme is to develop future surgeon scientist leaders with excellence in translational research.
This scheme provides a full-time research opportunity for trainee surgeons to complete a UCL PhD over 3 years, covering the salary, tuition fees, consumables and travel. The programme is open to all surgical trainees (up to but excluding consultant level) who have demonstrated a commitment to a career in surgical treatment of children. All sub-specialties within children’s surgery are invited to apply, including neurosurgery, orthopaedics, craniofacial, cardiothoracic and general paediatric surgery. Each successful candidate is supervised by an ICH research leader and a practising GOSH consultant surgeon.
Lewis Spitz Surgeon Scientist Cohort
The Lewis Spitz Surgeon Scientists are outstanding surgeons and researchers. To date, the programme has supported eight fellows with further two offered a place on the programme in 2024/25 academic year. You can learn more about the fellows and their research using drop-down links below.
- Sebastian Toescu (2017-2021)
Sebastian attended medical school at the University of Bristol and after completing his Academic Foundation Programme at the Royal Free Hospital and a year of Core Surgical Training at King’s College Hospital, entered the Neurosurgery training programme in London in 2015. He was appointed as the first Lewis Spitz Fellow in 2017, and took time out of programme to complete his PhD at GOSH and UCL-GOS Institute of Child Health. He was supervised by Professor Chris Clark and Mr Kristian Aquilina, and spent a portion of his research at Stanford University, California. He is now completing his training in neurosurgery. Sebastian was appointed as the first SBNS Caribbean Training Fellow in 2024, travelling to Kingston, Jamaica, where he will undertake neurosurgical training in trauma, paediatrics and general neurosurgery. His career goal is to become a consultant neurosurgeon specialising in paediatric neuro-oncology with commitments to clinical, academic and teaching activity.
Motivation for wanting to be a surgeon scientist.
In order to keep the field of paediatric surgery moving forward. If we don’t ask questions of what we are doing then in twenty years’ time we will look around and realise we are doing the same operations, in the same way, on the same patients, as we always were. It’s about finding out what those questions are, and working on strategies to answer them in a way that translates to better care for patients.Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity.
The Lewis Spitz fellowship is an unparalleled opportunity for aspiring paediatric surgeons. Fundamentally, the fellowship afforded me time away from the clinical coalface of training rotations, giving me the headspace to think more deeply about the questions I had proposed in my research; and the time to learn high-level image processing techniques required to demonstrate results. I felt really well supported both academically - as I had joined a thriving lab where I was able to learn from others; and clinically - as I rejoined the world-class neurosurgery department at GOSH for patient recruitment and on-call work.Why do you think it is an important role in the landscape of paediatric healthcare?
Patient numbers are often smaller in paediatric conditions than they are in adult medicine – particularly for things like brain tumours – and this poses a research challenge. By developing a network of paediatric surgeon scientists, we can leverage collaborative studies to provide more definitive answers to difficult research questions. Regular interactions with these networks of peers can help drive the conversations forward into new, exciting directions.About the PhD project
Supervisors: Professor Christopher A Clark and Mr Kristian Aquilina
Surgical Speciality: Neurosurgery
PhD project abstract:
Brain tumours in children frequently occur in the posterior fossa. Most undergo surgical resection, after which up to 25% develop cerebellar mutism syndrome (CMS), characterised by mutism, emotional lability and cerebellar motor signs; these typically improve over several months. This thesis examines the application of diffusion (dMRI) and arterial spin labelling (ASL) perfusion MRI in
children with posterior fossa tumours.dMRI enables non-invasive in vivo investigation of brain microstructure and connectivity by a computational process known as tractography. The results of a unique survey of British neurosurgeons’ attitudes towards tractography are presented, demonstrating its widespread adoption and numerous limitations. State-of-the-art modelling of dMRI data combined with tractography is used to probe the anatomy of cerebellofrontal tracts in healthy children, revealing the first evidence of a topographic organization of projections to the frontal cortex at the superior cerebellar peduncle. Retrospective review of a large institutional series shows that CMS remains the most common complication of posterior fossa tumour resection, and that surgical approach does not influence surgical morbidity in this cohort.
A prospective case-control study of children with posterior fossa tumours treated at Great Ormond Street Hospital is reported, in which children underwent longitudinal MR imaging at three timepoints. A region-of-interest based approach did not reveal any differences in dMRI metrics with respect to CMS status. However, the candidate also conducted an analysis of a separate retrospective cohort of medulloblastoma patients at Stanford University using an automated tractography pipeline. This demonstrated, in unprecedented spatiotemporal detail, a fine-grained evolution of changes in cerebellar white matter tracts in children with CMS. ASL studies in the prospective cohort showed that following tumour resection, increases in cortical cerebral blood flow were seen alongside reductions in blood arrival time, and these effects were modulated by clinical features of hydrocephalus and CMS.
The results contained in this thesis are discussed in the context of the current understanding of CMS, and the novel anatomical insights presented provide a foundation for future research into the condition.
Impact/outcomes from the PhD; Patient benefit (including anticipated)
- Development and validation of a pre-operative risk calculator for CMS which is used in consent discussions with families
- I am a board member of the worldwide Posterior Fossa Society which is dramatically increasing the global awareness of this condition and engaging families and therapists in order to generate small but significant improvements in the care of affected children
You can read more about Sebastian's research on UCL Profiles
- Aswin Chari (2019-2022)
Aswin is a North Thames neurosurgical trainee and aspiring academic paediatric neurosurgeon. Following completion of his Lewis-Spitz Surgeon-Scientist Fellowship, he has obtained an NIHR Academic Clinical Lectureship, which has allowed him to continue his research in the fields of paediatric epilepsy and paediatric epilepsy surgery at GOSH & UCL GOS Institute of Child Health.
Motivation for wanting to be a surgeon scientist:
As an aspiring paediatric neurosurgeon, I am committed to improving the lives of children with neurosurgical conditions and specifically epilepsy. The motivation to be involved in research is wanting to contribute to improving treatments for future children, making them more accessible, effective and safe.Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity:
The Lewis-Spitz Scientist Fellowship offered me an unparalleled opportunity to delve into the world of paediatric epilepsy surgery at a leading centre in the UK, Europe and worldwide. At GOSH and UCL-GOS Institute of Child Health, I had exposure to clinical and academic expertise in a wide range of fields and was able to regularly speak to and conduct projects with people who are looking to push boundaries to improve our knowledge and treatments for epilepsy.Why do you think it is an important role in the landscape of paediatric healthcare?
Surgeon-scientists are in a unique position to be able to do research to advance surgical treatments. They are able to take problems from the clinical setting and attempt to solve them in the lab whilst also being able to translate solutions from the lab into clinical practice to improve outcomes. In the field of epilepsy, I see it as my role in the future to help identify and translate new solutions and treatments to the operating theatre and beyond to help make future surgical treatments more accessible, effective and safe.Future direction and opportunities that the scheme has offered:
The scheme has set me on the path towards becoming an academic paediatric neurosurgeon. Since completing the PhD, I have been awarded an NIHR Academic Clinical Lectureship to continue the line of research, with a main focus on improving the timing of surgical intervention for paediatric epilepsy and assessing the role of the thalamus in children undergoing invasive monitoring at GOSH.About the PhD project
Title: Interictal network dynamics in paediatric epilepsy surgery
Supervisors: Rod Scott, Martin Tisdall, Richard Rosch, Rachel Thornton
Surgical Speciality: NeurosurgeryAbstract:
Epilepsy is an archetypal brain network disorder. Despite two decades of research elucidating network mechanisms of disease and correlating these with outcomes, the clinical management of children with epilepsy does not readily integrate network concepts. For example, network measures are not used in presurgical evaluation to guide decision making or surgical management plans. The aim of this thesis was to investigate novel network frameworks from the perspective of a clinician, with the explicit aim of finding measures that may be clinically useful and translatable to directly benefit patient care. We examined networks at three different scales, namely macro (whole brain diffusion MRI), meso (subnetworks from SEEG recordings) and micro (single unit networks) scales, consistently finding network abnormalities in children being evaluated for or undergoing epilepsy surgery. This work also provides a path to clinical translation, using frameworks such as IDEAL to robustly assess the impact of these new technologies on management and outcomes. The thesis sets up a platform from which promising computational technology, that utilises brain network analyses, can be readily translated to benefit patient care.Impact/outcomes from the PhD; Patient benefit (including anticipated):
Novel method of structural brain network analysis using diffusion MRI in paediatric epilepsy, first in human translation of machine learning tool to help localise seizures in children with focal epilepsyYou can read more on Aswin's research on UCL Profiles
- Natalie Durkin (2019 - 2024)
Research project title: Oesophagus tissue engineering in large animals as a preclinical model for the treatment of oesophageal atresia
Supervisors: Paolo De Coppi, Simon Eaton, Paola Bonfanti
Surgical Speciality: Paediatric SurgeryPhD project abstract:
Oesophageal atresia (OA) is a spectrum of rare congenital malformations where faulty embryonic separation of the oesophagus and trachea results in a disruption in oesophageal continuity and an abnormal connection between the two. In 10% of patients, with a subtype known as long-gap, primary anastomosis is often not feasible due to a large tissue deficit, resulting in the requirement for an oesophageal substitute. Current options for oesophageal replacement are suboptimal; surgical creation of gastric, jejunal or colonic substitutes result in loss of function of that organ and all three techniques are associated with significant long-term complications and morbidity.Tissue engineering offers huge potential as a novel strategy to treat complex congenital and acquired conditions of the oesophagus where standard therapy has failed or current options for organ replacement fall short. In 2018, Urbani et al published the proof-of-principle of a tissue engineered oesophageal construct in vitro by seeding human mesoangioblasts, mouse fibroblasts and rat epithelial cells on a decellularised rat oesophageal scaffold. The scope of this work focuses on the challenges addressed in order to upscale this model in vitro prior to eventual delivery of this model in vivo by optimising decellularisation of porcine oesophagus, isolating and characterising porcine mesoangioblasts and fibroblasts from skeletal muscle biopsies and investigating the effect of bioactive molecules and co-culture on cell migration in 2D and 3D prior to thoracic transplantation in vivo in mini pigs to assess the safety, feasibility and efficacy of this approach as a preclinical model for the treatment of long-gap oesophageal atresia.
You can read more on Natalie's research here
- James Wawrzynski (2020-2024)
James studied medicine at Cambridge University, graduating in 2013. He also undertook an intercalated degree in physiology, development and neuroscience, graduating with 1st class honours. He then went on to work as a foundation year doctor in a range of medical and surgical specialties within the East of England deanery. In 2015 he was selected for the ophthalmic surgical training programme in the North London deanery and has since subspecialised in vitreoretinal surgery. He is currently a vitreoretinal fellow at Moorfields Eye Hospital. He has been actively involved in research throughout his medical career initially focusing on medial and surgical education and later on retinal vascular disease. He recently completed a 3 year PhD placement at the UCL Institute of Child Health, Great Ormond Steet hospital and Moorfields Eye Hospital working on a gene therapy for Norrie disease, Familial Exudative Vitreoretinopathy, Coats disease and Retinopathy of Prematurity. During this time he also worked on a novel application of an existing therapeutic agent in the treatment of Batten disease associated retinal dystrophy.
Motivation for wanting to be a surgeon scientist.
Nowadays medicine is highly protocol driven. The days of doctors bringing in their own original thought to the treatment of most conditions are, fortunately, behind us. This change has come about for very good reason. Medicine is now increasingly evidence based, enabling decisions to be made based on the results of treating thousands of patients rather than the experience of individual clinicians. This has led to more effective and increasingly cost-efficient medicine being practiced.
However, when it comes to the development of new treatments for currently untreatable conditions the doctor once again has to rely on a solid clinical and scientific grounding and is able to develop and contribute their own ideas and solutions to problems. For me this is one of the most exciting aspects of medicine. Ultimately these treatments may be incorporated into standard protocols and become a routine part of clinical practice. Therefore involvement in medical research nowadays is potentially highly impactful and has the potential to help many more patients than an individual doctor could on their own.
I have chosen a surgical specialty as each and every case is different and, like medical research, involves problem solving. I also feel that surgical research lags behind medical research as it is much more difficult to standardise treatment. Leading on surgical research therefore had the potential to be both highly challenging and impactful.
I also find that patients and relatives of patients with rare disease that may be difficult to treat are often highly interested in their condition and motivated to help find new treatments, even if only for the next generation. Working together with such patients is a great privilege.Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity.
The Lewis Spitz Surgeon Scientist research fellowship has provided me with quite a unique opportunity to pursue both lab based and clinical research in tandem. Throughout my fellowship I was able to learn about the presentation and treatment of patients with the conditions that I was investigating at the same time as developing a molecular treatment for their condition. Seeing patients in clinic influenced the direction of my lab based work by understanding with aspects of the condition trouble patients the most, and the least.
I have published my work in high impact scientific journals and have recently been selected for the vitreoretinal fellowship at Moorfields Eye Hospital.
I am involved in on-going postdoctoral research related to my PhD work as well as an exciting new project with the same team.
The opportunities afforded to me by completing the Lewis Spitz fellowship have enabled me to develop myself as a surgeon scientist and are likely to make be competitive when applying for further research funding to lead combined academic and clinical work as a consultant ophthalmologist in the future.Why do you think it is an important role in the landscape of paediatric healthcare?
Paediatric research is challenging due to the young age of the patients involved and the huge diversity of rare conditions that affect children. Many of these conditions still have no effective treatments. Paediatric healthcare therefore requires a substantial number of paediatric surgical scientists working on solving these problems. The Lewis Spitz programme provides a tailor made route for aspiring paediatric surgeons to become paediatric surgical scientists.Future direction and opportunities that the scheme has offered:
The scheme has enabled me to develop a solid clinical and academic grounding in paediatric vitreoretinal conditions. I am now involved in further research to hopefully take forward NDP gene therapy into clinical trials. In addition, I am involved in several other exciting new projects with the same team that make use of the surgical and academic expertise I have developed during the Lewis Spitz fellowship. At the same time I have taken on a role as vitreoretinal fellow at Moorfields Eye Hospital, which will enable me to sub-specialise in vitreoretinal surgery. Eventually I hope to become a consultant vitreoretinal surgeon scientist leading on the development of novel surgical treatments.About your PhD project
Research project title: Molecular treatments for paediatric vitreoretinal disease: developing gene therapy for NDP-related retinal disease and delivering enzyme replacement for CLN2 retinopathy
Surgical speciality: Vitreoretinal Surgery
Supervisors: Professor Jane Sowden, Mr Robert Henderson
PhD project abstract:
Inherited vitreoretinal disease is a common cause of childhood visual impairment. With the notable exception of treatment for RPE65, no molecular treatments for these conditions are available. I aimed to develop and test a gene therapy for NDP-related retinal disease and to translate a previously studied enzyme replacement therapy for CLN2 retinopathy from animal studies into a human trial.
Pathogenic variants in NDP (Xp11.3) result in a spectrum of retinal disease from peripheral non-perfusion, to sight threatening exudative/tractional
retinal detachment. In a systematic review of published case reports I found that variants affecting the NDP/FZD4 interaction or the NDP homodimer tend to cause severe disease (historically termed Norrie Disease) whereas variants affecting the NDP/LRP5 interaction tend to cause moderate disease (historically termed FEVR). I also found an association between heterozygous NDP pathogenic variants and Coats disease and between otherwise benign variants in NDP and retinopathy of prematurity.I developed an AAV gene therapy for NDP retinal disease and tested iterations of the treatment in an Ndp KO mouse model. When administered during retinal vascular development, AAV.NDP rescued vascular architecture and reduced exudation. When administered later, AAV.NDP reduced exudation and pathological neovascularisation but did not ameliorate the vascular architecture.
Pathogenic variants in CLN2 result in dysfunctional TPP-1 lysosomal enzyme. From the age of 2-4 patients develop progressive neurological decline and retinal dystrophy, followed by premature death. Whilst intracerebroventricular enzyme replacement is available to prevent neurological decline, no treatment is available for the retinopathy. I translated experimental results from a canine model into human patients and found that intravitreal replacement of TPP-1 slows CLN2 related retinal degeneration.
In summary, this thesis describes the development of an effective novel gene therapy for NDP retinopathy using a murine model and the translation of an enzyme replacement therapy from a canine model into human patients for the first time.
Impact/outcomes from the PhD; Patient benefit (including anticipated)
My research into Batten disease has resulted in the finding of an effective molecular therapy for the treatment of retinal dystrophy in Batten disease. This has led on to a gene therapy trial to deliver the same treatment without the need for repeated intravitreal injections. The trial is currently taking place at Great Ormond Street Hospital.
My research into NDP related retinopathy has resulted in the development of a novel gene therapy for this condition, which is effective in mice and to a current research project involving patients to determine the best candidates for a future clinical trial.
My research into surgery for ROP/ FEVR has demonstrated that combined biom and endoscopic vitrectomy is a better surgical approach for neonatal tractional retinal detachment related to these conditions than traditional biom-assisted vitrectomy alone.You can read more about James' research works here
- Rory Piper (2021-2024)
I am a Clinical Lecturer in Paediatric Neurosurgery at the UCL Great Ormond Street Institute of Child Health. I completed the Lewis-Spitz Surgeon-Scientist Programme in 2024 with research focusing on ‘network-guided epilepsy surgery for children’, with projects in neuroimaging and deep brain stimulation. I have previously completed the Academic Clinical Fellowship in Neurosurgery at the John Radcliffe Hospital (Oxford) and the Academic Foundation Programme (Cambridge).
Motivation for wanting to be a surgeon scientist.
My ultimate goal is to become an academic paediatric neurosurgeon and to use that role to help children with debilitating neurological conditions. My long-term plan is to develop, build and lead an integrated clinical and academic functional neurosurgery service to help children with drug-resistant neurological conditions, such as epilepsy, dystonia and spasticity.
Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity.
During my PhD I was the trial fellow for the CADET Project, which trained me in skills critical to the design, set-up and delivery of clinical device trials in neurosurgery. This unique experience in paediatric neurosurgical research provided me a springboard of abilities that I can draw upon in the next stage of my career. I received a hands-on experience of device trials which trained me in all of the regulatory components of clinical device trials and an opportunity to gain experience in collaborating with engineering teams and industrial partners.Why do you think it is an important role in the landscape of paediatric healthcare?
It is imperative that we develop novel surgical therapies so that we can provide the very best outcomes to children with medical disorders. For example, epilepsy is a common condition (affecting ~600,000 in UK) and approximately one third of children with epilepsy will continue to have seizures despite taking anti-seizure medications. For carefully selected children with ‘medication-resistant’ epilepsy, neurosurgery can deliver either seizure freedom or significant seizure frequency reduction – providing a dramatic and life-long benefit to these patients. However, we still have more work to do in this area, and it is crucial that neurosurgeons engage with and lead research in this area to develop new surgical therapies to achieve good outcomes for all children with medication-resistant epilepsy.
Future direction and opportunities that the scheme has offered:
During my PhD at UCL Great Ormond Street Institute of Child Health I was a co-applicant on a successful grant application to the NIHR Inventions 4 Innovation (i4i) Product Development Award (PDA) scheme. This project will fund an exciting novel project focused on refining deep brain stimulation for children with drug-resistant epilepsy. Furthermore, the funding has enabled me to take on a Clinical Lectureship in Paediatric Neurosurgery, which will be a pivotal next step in my academic neurosurgical career.
About your PhD project
Research project title: Network-guided surgery for children with epilepsy
Surgical speciality: Neurosurgery
Supervisors: Mr. Martin Tisdall, Prof. Torsten Baldeweg, Dr. David Carmichael
PhD project abstract:
Epilepsy is a disorder of brain networks. The connectivity of the brain may be analysed by considering the brain as a graph with nodes (brain regions) and edges (a measure of connectivity between nodes). There is a growing body of research to identify critical nodes within dynamic epileptogenic networks with the aim to target therapies that halt the onset and propagation of seizures. This PhD thesis applies a networks approach to epilepsy surgery and focuses on two particular propagation points or nodes (piriform cortex (PC) and thalamus) within epileptogenic networks and reports three studies at different steps of the clinical translational pathway. Study #1 was a retrospective study investigating the association between the extent of resection of the PC and post-operative seizure freedom in children who underwent anterior temporal lobe resection for temporal lobe epilepsy (TLE). This is the first study demonstrating that, in children with TLE and hippocampal atrophy, more extensive temporal PC resection is associated with a greater chance of seizure freedom. Study #2 was a prospective ultra-high-field (7-Tesla) MRI study investigating the functional connectivity of the PC and thalamus in children and adults with TLE. This study did not find functional connectivity differences in either mesial temporal lobe structures or thalamic subregions in the full TLE cohort compared to controls. Reduced functional connectivity of amygdala and increased functional connectivity of ventral -anterior nucleus of the thalamus were found in patients with hippocampal atrophy compared to those without. Study #3 reports on the outcomes for the first participant recruited to the Pilot Study of the Children’s Adaptive Deep brain stimulation for Epilepsy Trial (CADET) , a consecutive series of prospective, multicentre, interventional clinical trials of deep brain stimulation of the centromedian nucleus of the thalamus in treating children with Lennox-Gastaut Syndrome.Impact/outcomes from the PhD; Patient benefit (including anticipated)
A significant component of my PhD work was the Children’s Adaptive Deep brain stimulation for Epilepsy Trial (CADET) Project – a series of consecutive prospective clinical device trials that investigates the safety, feasibility and effectiveness of a novel cranially-mounted DBS device to treat children with Lennox-Gastaut Syndrome (a severe form of generalised-onset epilepsy). The most significant impact and milestone of my PhD was in achieving the first-in-child and first-in-epilepsy application of this therapy. This CADET programme marks the first intracranial neuromodulation study at GOSH and will provide a platform to translate DBS as an effective and available form of therapy for children with Lennox-Gastaut Syndrome.
Featured on BBC and GOSH websites:
https://www.bbc.co.uk/news/articles/cg33kgd81mvo
https://www.gosh.nhs.uk/news/first-uk-trial-of-deep-brain-stimulation-for-children-with-epilepsy-begins-at-gosh/You can read more about Rory's research works here
- James Arwyn-Jones (2023-2026)
I am an ENT registrar currently taking time out of training to undertake a PhD in Prof. Jane Sowden’s lab, via the Lewis Spitz Surgeon Scientist Fellowship. I graduated from Oxford in 2016 and spent my foundation training years in the Thames Valley region before moving to London. I have an interest in ear surgery, and I am pursuing a career in Otology; to treat patients who require surgical management of their hearing loss and other ear conditions.
Motivation for wanting to be a surgeon scientist.
My professional motivation for wanting to be a surgeon scientist stems from an interest in genetics and genetic hearing loss. I find human genetics fascinating and view the pursuit of understanding and treating genetic diseases as a new frontier for the medical profession. Within ENT I wanted to equip myself with the knowledge and experience necessary to become an expert in genetic hearing loss and novel therapeutics seeking to cure this type of disease.From a personal perspective, when undertaking a PhD as a surgical trainee there are a lot of things to think about, and I spent time thinking carefully about the personal impact of trying to balance a surgical and academic career. For me, the prospect of being a surgeon scientist is a fantastic way of building an impactful, enriching and fulfilling working life while bringing a diversity to my day-to-day activities that will help maintain longevity in my career.
Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity.
My project is focused on understanding more about Norrie disease. This is a rare X-linked recessive disorder resulting in congenital blindness and progressive hearing loss. The Sowden lab is working to better understanding the mechanism of this disease and develop a gene therapy for the hearing loss associated with this condition. I am in the first year of my PhD and have already learned so much about laboratory techniques, novel therapeutics, and translational science from my colleagues at the Institute of Child Health. I also maintain a close relationship with my clinical supervisor and regularly visit Great Ormond Street to join an operating list. I think this fellowship is among the best opportunities for surgeons to start their academic career, as it has been specifically designed to place fellows in translational research projects. This has provided me with a wealth of learning opportunities in both lab-based and clinical research and is a great environment to learn the ways in which surgeons can be at the forefront of bringing new science to surgical patients.Why do you think it is an important role in the landscape of paediatric healthcare?
I think that the role of surgeon scientists is particularly important in paediatrics, as the opportunity for intervention is huge. There is amazing progress being made in finding new ways to diagnose and treat previously challenging conditions in this population, and surgeon scientists have a key role in ensuring this progress is actualised in clinical practice.About your PhD Project
Project title: Cochlear gene therapy to treat progressive hearing loss in Norrie Disease
Surgical speciality: Ear, Nose & Throat Surgery
Supervisoru group: Jane Sowden, Robert NashThis project will focus on the development of a gene therapy for Norrie disease to prevent progressive hearing loss.
Norrie disease is an X-linked condition, caused by mutation of the gene NDP. Boys with Norrie disease are born blind with severely disrupted retinal vasculature. Almost all develop progressive hearing loss that becomes profound. No curative treatment currently exists. Children with Norrie disease are regularly seen at Great Ormond Street Hospital (GOSH) after referral for congenital blindness and genetic testing. Our multidisciplinary research team comprising clinicians and scientists aims to address the challenge of finding treatments for Norrie disease and works together with the patient family led UK-based registered charity, the Norrie Disease Foundation UK.
NDP encodes a small secreted protein, Norrin that activates the canonical Wnt/b-catenin signalling pathway in endothelial cells to control retinal vascular growth. Norrin is also essential for normal function of the microvasculature in the cochlea with the later loss of sensory hair cells causing profound hearing loss.This project will use a mouse genetic model of Norrie disease to evaluate molecular therapies for Norrie disease. We have studied the early stages of disease and established several assays to measure abnormalities of the cochlear vasculature and sensory hair cell that will be used to assess whether NDP gene replacement therapy ameliorates the cochlear phenotype.
The aim is to perform a pre-clinical gene therapy trial in the Ndp-KO mouse model using an NDP adeno-associated viral (AAV) vector designed for clinical use and direct cochlea injection based on the efficacy of a GFP tagged prototype vector already tested in our laboratory. We will deliver the human NDP gene sequence to the cochlea via intracochlear injection and measure the outcomes of prevention of hair cell death and hearing loss.
- Jonathan Neville (2023-2027)
Jonathan graduated from King’s College London School of Medicine in 2018, where he completed an intercalated BSc in Medical Genetics in 2015. He was a paediatric surgery themed Academic Foundation Doctor in the North West London deanery, and then in 2020 was awarded an NIHR Academic Clinical Fellowship in paediatric surgery at the University of Southampton. During these three years his research was a mix of clinical studies and laboratory research at the Institute of Cancer Research. Jonathan completed a year of specialist registrar training at the Royal Alexandra Children's Hospital before starting his PhD at the Great Ormond Street Institute of Child Health in April 2024. His research focuses on investigating heterogeneity in neuroblastoma and the development of new techniques for surgical management of paediatric tumours.
Motivation for wanting to be a surgeon scientist.
Paediatric surgeon scientists are in a unique position to be able to directly investigate often rare and complex diseases which have a lifelong impact on the child. Research findings can be translated from the laboratory into the clinic and dramatically improve outcomes and quality of life for children. It is the combination of the varied pathology, the necessity for innovative and collaborative research methods, and the immense positive impact that paediatric surgeons can make to a child’s life that makes a career as a paediatric surgeon scientist so rewarding.Thoughts on the fellowship in terms of the opportunity it offered to pursue being a surgeon-scientist, which is otherwise a rare opportunity.
The fellowship enables me to work within a world class institution at the cutting-edge of paediatric surgical science. The exceptional facilities, supervisors and teaching at the Institute of Child Health will allow me to develop my laboratory research skills.Why do you think it is an important role in the landscape of paediatric healthcare?
Surgeon scientists can bridge the gap between the lab and the clinical environment. The role is vital to bring important questions from the hospital to researchers in the laboratory, and to translate new technologies and treatments from the laboratory to patients. It is a real privilege to be able to assist in advancing paediatric surgical care in this way.About the PhD Project
Research project title: Investigating spatial and temporal tumour heterogeneity in neuroblastoma to improve surgical clearance and develop novel techniques for loco-regional control
Surgical speciality: Paediatric Surgery
Supervisors: John Anderson, Stefano GiulianiPhD project abstract
Neuroblastoma is a paediatric cancer arising during development in the neural crest. It has a wide range of clinical outcomes, from spontaneous remission to aggressive metastatic disease. Neuroblastoma is responsible for 15% of all childhood cancer deaths, and five-year survival rates are 40 – 50% in high-risk disease. Prognosis has not dramatically improved in the last 20 years.
Studies have identified that certain molecular alterations and tumour immune microenvironment (TIME) changes are associated with poorer outcomes. However, there is a high degree of spatial and temporal heterogeneity. Chromosomal aberrations and druggable-target gene mutations are variable at diagnosis and relapse, suggesting ongoing clonal evolution. This evolution may cause heterogeneity in the TIME and cell surface marker expression.
Surgery remains a critical component in the multimodal management of neuroblastoma. Surgical resection is associated with complications and it can be challenging intra-operatively to discriminate neuroblastoma from non-cancerous tissue. Residual tumour associates with local recurrence and poorer outcomes. Fluorescence-guided surgery (FGS) is an evolving technology that enables surgeons to identify and remove tumour material using neuroblastoma-specific probes incorporating fluorophores. GD2-specific tracers have shown promise in pre-clinical studies. But they are limited by heterogeneity and GD2 is down-regulated in response to immunotherapy.
There is a paucity of evidence describing the heterogeneity of the molecular, TIME and cell surface marker profiles in neuroblastoma. In this study we will perform imaging-guided, multi-regional biopsies of diagnostic and post-treatment tumour material. Samples will undergo genomic, transcriptional and multiplex spatial analysis. These profiles will be integrated to generate phenotypes predictive of clinical outcome. Multiplex imaging will be used to evaluate the TIME and identify new targets for FGS. We envision that the comprehensive mapping of neuroblastoma heterogeneity will enable the development of multiple FGS probes which can identify specific subclones. This would improve intra-operative decision making, allowing surgeons to identify areas of aggressive tumour and discriminate viable from non-viable tissue.- Amparo Saenz (2024-2027)
Originally from Patagonia, Argentina, I completed my neurosurgery training at Garrahan Hospital in Buenos Aires. In 2021, I relocated to London to undertake a Paediatric Neurosurgery Fellowship at Great Ormond Street Hospital (GOSH). This opportunity led me to pursue two additional fellowships in Paediatric Spine and Craniofacial Surgery. My passion for research has always been a driving force in my career, and in the UK, I discovered an ideal environment that allows me to continue my research endeavours while remaining actively involved in neurosurgery
Motivation for wanting to be a surgeon scientist: My motivation to become a surgeon-scientist stems from a deep desire to bridge clinical practice and research. I believe that by integrating these two disciplines, I can contribute to advancements in patient care while directly applying innovative research to surgical practice. This dual role allows me to not only treat patients but also to explore new frontiers in medical science, ultimately improving outcomes for future generations.
Thoughts on the fellowship in terms of the opportunity it offered: The fellowship provided a unique and invaluable opportunity to pursue my dual interests as a surgeon-scientist. This rare experience allowed me to immerse myself in advanced clinical training while also engaging in meaningful research. The structured environment, access to cutting-edge resources, and mentorship from leading experts made it possible for me to develop as both a clinician and a researcher, which is often difficult to achieve simultaneously.
Why it is an important role in the landscape of paediatric healthcare: The role of a surgeon-scientist is crucial in paediatric healthcare because it fosters a continuous cycle of innovation and improvement. By being directly involved in both surgery and research, surgeon-scientists are uniquely positioned to identify clinical challenges and develop targeted research questions. This approach leads to more effective treatments and better patient outcomes, ensuring that paediatric care remains at the forefront of medical advancements.
About your PhD project
Research project title: Chiari II brain malformation: role of cerebrospinal fluid
Surgical speciality: Paediatric Neurosurgeon
Supervisors: Prof. Andrew Copp and Mr Dominic Thompson
PhD project abstract:
Open spina bifida (OSB; often called ‘myelomeningocele’) is accompanied in most cases by the Chiari II malformation, in which hindbrain herniation leads to hydrocephalus. Other brain defects in Chiari II (e.g. neuronal migration disorders, hypogenesis of the corpus callosum) are common and underlie learning difficulties in many children with OSB. Cerebrospinal fluid (CSF) leaks from the OSB lesion, and has been implicated in causing the Chiari II malformation. While hindbrain herniation can be reduced by fetal surgery for OSB, the ‘higher’ brain defects are not prevented. This project will test the hypothesis that CSF composition may differ in OSB – due to fluid leakage and rapid replenishment – and that this may adversely affect neuronal formation (neurogenesis) and migration in the embryonic and fetal brain. CSF will be collected from children with OSB/Chiari II undergoing neurosurgery at GOSH, using CSF from other operations as controls. CSF will also be obtained during fetal surgery for OSB, and from a mouse genetic model of Chiari II that we recently developed (Cdx2Cre x Pax3flox). Composition of the CSF will be analysed using mass spectrometry-based proteomics, to detect differences between OSB and controls. To determine whether neuronal formation and migration are affected by CSF composition, brain slices will be prepared from human embryos supplied by the Human Developmental BiologyResource, and also from mouse embryonic brains. Cultures will be treated with CSF of different origins, and also with purified candidate proteins highlighted by the proteomic analysis. Neurogenesis will be measured using cell cycle methods (e.g. EdU labelling). Neuronal migration will be studied by immunolabelling with cell type-specific antibodies, and by Cre/loxP lineage tracing. This project aims to significantly advance our understanding of how Chiari II brain defects arise in children with OSB, and to suggest new approaches to prevention of these disorders.- Ali Rezaei Haddad (2024-2027)
Ali is a neurosurgery resident in London with experience across various aspects of neurosurgery, particularly in the use of advanced technology in surgical practice. He began his medical journey with a BSc in Neuroscience, graduating with First Class Honours from Imperial College London, where he received the Imperial College Gold Medal for academic excellence. This award also recognised his efforts in organising medical relief in disadvantaged areas and leading public outreach events, including 'Imagining the Future of Medicine' at the Royal Albert Hall. He then completed his medical training at Warwick Medical School and was awarded the Warwick Medical School Research Medal for his contributions to clinical research. Following this, Ali began his neurosurgical residency, gaining broad experience in the field. He co-developed the internationally recognised GoodSAM app, which is used by the NHS to connect trained responders to emergencies in real-time, providing life-saving assistance before emergency services arrive. Ali completed his Academic Foundation Training in Oxford, focusing on neuroimaging research, where his work on probabilistic tractography was recognised with a local grant. As an NHS Clinical Entrepreneur, Ali has continued to explore innovative medical technologies, leading to the founding of XARlabs. He holds a patent for an augmented reality surgical guidance system, which XARlabs has developed into a mixed reality platform to improve surgical visualisation and precision. The XARlabs platform has already been used in conjoined twin operations, demonstrating its impact in high-stakes surgical settings, and is currently in use within the NHS. His experience spans clinical practice, innovation in medical technology, and academic research, all driven by his commitment to advancing paediatric neurosurgery.
Motivation for Wanting to Be a Surgeon Scientist: My drive to pursue a PhD is rooted in a desire to advance patient care by merging clinical expertise with technological innovation. By conducting research and developing new diagnostic and therapeutic tools, I aim to impact patient outcomes and further the capabilities of surgical precision. The surgeon-scientist pathway allows me to be at the forefront of these innovations, ensuring they translate from theory to clinical practice. My ultimate goal is to establish a neurosurgical paediatric technology lab dedicated to developing innovative solutions through advanced hardware and software, seamlessly combining my industry, clinical, and academic expertise, with a strong foundation from my PhD.
Thoughts on the Fellowship: The Lewis Spitz Surgeon Scientist PhD Scheme provides an invaluable opportunity to bridge clinical practice and research—a pathway otherwise challenging to find. This fellowship allows clinicians to drive impactful research that advances paediatric surgery by developing evidence-based, innovative solutions.
Why It Is an Important Role in Paediatric Healthcare: In paediatric surgery, especially with conditions like craniosynostosis, advancing our diagnostic and surgical tools can profoundly affect children’s lives. Surgeon-scientists play a critical role by integrating new research and tools, such as advanced diagnostic tools and imaging technologies developed through my broader research experiences, into standard care practices, closing the gap between emerging technology and daily clinical application.
About your PhD project
Research project title: Objective Assessment and Treatment Optimisation for Craniosynostosis: A Multicentric Approach to Improve Paediatric Cranial Care
Surgical speciality: Paediatric Neurosurgeon
Supervisors: Silvia Schievano, Juling Ong, Owase Jeelani
PhD project abstract:This project, a collaborative effort with the highly specialised Craniofacial Units of GOSH (London), Birmingham Childrens’ Hospital and Alder Hey (Liverpool) focuses on improving the understanding, diagnosis and treatment of craniosynostosis. This condition, impacting 1 in 2,000-2,500 newborns, is characterised by premature fusion of one or more sutures in the skull, and results in abnormal head shapes and several potential developmental problems.
In this study, we first aim to establish normative data for paediatric head volume and shape, including growth curves using statistical shape models based on machine learning algorithms. These will help with accurate quantification of deformities in craniosynostosis patients. Second, we will develop models to objectively measure the severity of deformities across various craniosynostosis types and analyse the changes that occur with growth and because of surgical interventions. The developed models will be incorporated into the creation of a secure, online platform, designed to analyse cranial deformities from CT scans, but also 3D photographs, offering a radiation-free, accurate method for evaluation of these conditions. The tool will enable early diagnosis, and consistent and objective pre and postoperatively assessments, facilitating personalised treatment strategies.
Patient and Public Involvement and Engagement activities will be crucial to our project. The involvement of patients and parents will ensure that the developed tools are user-friendly and meet the needs of both clinicians and families. This will empower patients/families with knowledge about the severity of the condition, and the potential outcomes of surgical (and non-surgical) interventions, allowing for more informed decisions.By integrating advanced computational tools and methodologies into craniosynostosis clinical care, this research will support surgeons with standardised, quantitative information on the severity of deformities and optimised interventions strategies, reducing reliance on subjective assessments. This, in turn, will promote evidence-based decisions, ultimately improving the quality of care and long-term outcomes for children with craniosynostosis.