e child rst and always and child rst e Research 2012/13 Review

UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust Research Review 2012/13

[email protected] Design ManagerDesign Hospital Street Ormond Great Fourth floor Street 40 Bernard 1LE London WC1N E

WC1N 3JH WC1N WC1N WC1N 1EH Foundation Trust Institute Thank you to everyone to who wasThank you interviewed for, or gave permission for or gave interviewed for, their picture to be used in this review, be used in thistheir to review, picture members of the as theas well many UCL Institute of Child HealthUCL Institute and who helped during its production. Please visit www.ucl.ac.uk/ich/research-ich or www.gosh.nhs.uk/research-and-innovation of this online version an review. for Great Ormond Street Hospital Ormond Street staffGreat 020 7405 9200 020 7405 www.gosh.nhs.uk NHS UCL Great Ormond Street Ormond Great London Great Ormond Street Ormond Great Children for Hospital 020 7242 9789 9789 020 7242 www.ucl.ac.uk/ich of Childof Health 30 Street Guilford London

Contents

03 Director’s report 07 Chief Executive’s report 09 Division of Research and Innovation report

Research

12 14 17 18

Europe’s rst research centre Gene therapy Life Study: Understanding Targeting brain tumours to tackle birth defects Professor Adrian rasher and lives now and for the future Dr Darren Hargrave Professor Andrew Copp Professor Bobby Gaspar Professor Carol Dezateux

21 23 24 27

Life-saving vaccines Getting under the skin Reproductive development Defending the body while Professor David Goldblatt of birthmarks Professor John Achermann tolerating ourselves Dr Veronica Kinsler Dr Masahiro Ono

People

30 Working with UCL Business PLC 31 Awards, honours and prizes 34 Grants and donations 36 Senior academic sta‡ 40 Administration

Cover: Chloe, age 11, has cystic ’brosis and is receiving treatment on Badger Ward.

Left: Jordell-Talib, age 12, is an outpatient at the department of Child and Adolescent Mental Health Service (CAMHS). Research Review 2012/13 01

Director’s report The UCL Institute of Child Health (ICH), with its partner Great Ormond Street Hospital (GOSH), is Europe’s largest academic centre for research and education in children’s health and disease. As part of University College London’s (UCL) Faculty of Population Health Services, our research stands to improve the lives of children and families across the UK and around the world.

It has been a great privilege for me to join, nature of the research spectrum, which in October 2012, the ICH. The mission of spans a huge range, from very basic the ICH, which is to ‘improve the health science research, through to population and wellbeing of children and the adults research. We have articulated some key they will become through world-class principles that should underpin and guide research, education and public our academic strategy, which are: engagement’ is inspirational and, • interdisciplinarity appropriately, puts the child at the • accelerating translation centre of what we do. This mission has • national partnership and leadership established a tremendous legacy of • developing our academic leaders excellence in research and teaching, which has been benefiting children in We have identified five programmes of the UK and throughout the world. research, which encompass all of the In the last year, I have been planning, ICH’s current strengths. These are: with colleagues, a new academic strategy • genetics and genomic medicine to build on the superb position that the • population, policy and practice ICH holds with its clinical partner, GOSH. • infection, inflammation and immunity To develop that strategy I spent most of my • developmental biology and cancer first three months meeting with staff within • developmental neurosciences the research units and learning about what they do. It has been very interesting and This will form the basis of our strategy humbling to appreciate the tremendous and we will be working jointly with contributions made by colleagues in the GOSH to develop a joint strategy ICH. The second three months focused for clinical research. on making external visits with at least one These new programmes will offer exciting of the ICH’s senior academics to other opportunities to further develop research- world-leading centres for children’s health led teaching. Our educational portfolio research and education. We visited the continues to grow. We have developed Hospital for Sick Children (SickKids) in new modules and courses, which fit in with Toronto, the Department of Paediatrics at our paediatric and child health remit, for Stanford University and Lucile Packard example, the new MSc/Diploma/Certificates Children’s Hospital, Boston Children’s in Paediatric Physiotherapy and the new Hospital, Cincinnati Children’s Hospital, pathway for Paediatric Gastroenterology. the Children’s Hospital of Philadelphia, We are also starting to expand our offerings and the Necker Children’s Hospital and for continuing professional development to Imagine Research Institute in Paris. We clinicians and allied health professionals always knew that these visits would be interested in paediatric and child health- important, but I don’t think any of us related subjects by developing an appreciated the tremendous value of the expanded portfolio of courses. insights they provided and the exciting opportunities for collaboration presented We continue to attract substantial funding by other leading children’s institutions. for important new initiatives. In October 2012, HRH The Princess Royal opened It became very clear that there were the Newlife Birth Defects Research Centre, certain features that are unique to funded by the Newlife Foundation for the ICH. These include having not only Disabled Children, Great Ormond Street world-class basic science research but Hospital Children’s Charity and other Six-year-old Luca on Walrus Ward. also superb paediatric epidemiology. benefactors. November 2012 saw the Luca has come all the way from Malta to receive treatment. We need to develop the interdisciplinary opening of The Arthritis Research UK Research Review 2012/13 03 Director’s report continued

Centre for Adolescent Rheumatology, with the UK to be elected to the Academy in Africa. The birth cohort studies, in which funding from Arthritis UK, Great Ormond of Medical Sciences. Professor David investigators from the ICH are involved, Street Hospital Children’s Charity, GOSH Goldblatt received a National Institute continue to report important findings. and UCL. This is the first of its kind and for Health Research Senior Investigator For example, Dr Alastair Sutcliffe from includes staff from across UCL, GOSH and Award, while Professor Terence the General and Adolescent Paediatric Unit University College London Hospitals, as Stephenson has been elected Chair of has looked at data from the Millennium well as the launch of a national network for the Academy of Medical Royal Colleges. cohort, and the National Evaluation of the research into adolescent rheumatology. We have also had a tremendous clutch Sure Start study showed better outcomes Our researchers are also in receipt of of successes in the senior promotions. for a number of different measures in substantial funding from the NIHR through Those promoted to Professor included children of older mothers. Within genetic the GOSH UCL Biomedical Research John Anderson, Paul Gissen, John research, work from Dr Hannah Mitchison Centre. You can read more about their Achermann, Mary Fewtrell and Nick and Professor Phil Beales has continued work in the Division of Research and Greene. A number of other staff were to elucidate the genetic basis underlying Innovation report. promoted to Senior Lecturer and Reader. ciliopathies. And Nature Genetics featured Our warmest congratulations go to them Professor Jugnoo Rahi’s publication on Our plans, in partnership with GOSH and all. We have also been very pleased to novel candidate genes for myopia. Great Ormond Street Hospital Children’s appoint Professor Chris O’Callaghan to the Meanwhile, Professor Francesco Muntoni Charity, for a Centre for Children’s Rare position of Professor of Respiratory and and colleagues in the Dubowitz Disease Research, received a tremendous Paediatric Medicine. Chris joins us from Neuromuscular Centre are reporting boost at the end of 2012, with the the University of Leicester where he has important discoveries about pathways announcement of an award of £10 million developed a very successful programme involved in congenital muscular dystrophy. towards the centre from the Higher of research addressing ciliopathies. This Education Funding Council for England, work complements the ongoing studies In summary, much has been achieved under their UK Research Partnership here at the ICH with Professor Phil Beales through dedication, hard work and Investment Fund. Finally, at the end of and Dr Hannah Mitchison. collaboration. We need to build on this 2012, the Centre for International Health fantastic platform and I am confident that and Development within the ICH became I am delighted to report that teams the ICH’s new academic strategy will enable a separate institute within the Faculty of within GOSH and the ICH are continuing us to drive forward research that will be Population Health Sciences at the Institute to report their important discoveries in even more impactful on the lives of children of Global Health, which is evidence of its top scientific journals. We have had two and the adults that they will become. continued and growing success. publications in the journal Science from the Africa Centre for Health and Population A number of our academic staff have Studies where Professor Marie-Louise achieved notable positions. Professors Newell has been Director for the past Kathy Pritchard-Jones and Marie-Louise several years. These publications Professor Rosalind Smyth Newell were among the 46 individuals have addressed the important impact of Director from across all of biomedical sciences in therapies for HIV on adult life expectancy UCL Institute of Child Health

04 Research Review 2012/13

Chief Executive’s report Conducting translational research has always been central to Great Ormond Street Hospital’s (GOSH) mission to put ‘the child first and always’. Today, our position as a leading paediatric research centre is a result of our close relationship with University College London, our principal academic partner, the UCL Institute of Child Health (ICH) and the support provided by Great Ormond Street Hospital Children’s Charity.

Throughout this review, you will read about Our appointed architects are currently how our joint ventures are pioneering new coming up with designs for the site, due to and novel ways of treating children with open in 2017, which will occupy a space complex and rare diseases. For example, just a few steps from the main hospital. our Director of Clinical Research and Development, Professor David Goldblatt, We are also very excited to be launching highlights the importance of our flagship a joint research strategy with the ICH. award with UCL (funded by the National This will give a clear focus for how we Institute for Health Research) as a will work together, to develop our core Biomedical Research Centre (BRC), the research strengths including recruiting and only BRC in the UK with a paediatric focus. retaining the best researchers in their fields supported by state-of-the-art infrastructure. Our review also highlights the breadth of our research. The ground-breaking But there is still much more work that can gene therapy treatments developed by and should be done. As the UK’s leading Professors Bobby Gaspar and Adrian children’s hospital and centre for research, Thrasher are leading global advances in we should be continuously looking to treating children whose conditions mean exploit the opportunities technological and they are unable to fight infections – with scientific advances can bring to improve truly revolutionary results. the lives of children.

In this review, we also highlight the We are currently developing an information work of Dr Darren Hargrave, Consultant strategy that aims to enable critical patient Paediatric Oncologist, who is leading a information to be accessed wherever the strategy to translate scientific discoveries patient is being treated throughout their into better therapies for children with brain lives. What’s more, we are working to tumours where the current prognosis create powerful phenotype information that remains poor. You can also read how can be cross referenced with emerging Dr Veronica Kinsler, academic lead for genetic data to really drive forward paediatric dermatology at GOSH, and the treatments and cures for diseases caused ICH, identified the genetic cause of a rare by gene defects. skin condition, which now paves the way for developing better treatments and After reading this review I hope you will helping the understanding of other agree that GOSH and its partners are on conditions in particular skin cancers. an exciting journey of discovery to meet the challenge of improving the health and GOSH sees more children with rare well-being of children not just in the UK diseases than any other centre in Europe, and so, along with the ICH is uniquely but around the world. placed to conduct research in this area. In last year’s Research Review, we talked about our plans with the ICH and Great Ormond Street Hospital Children’s Charity Mr Jan Filochowski to open the new Centre for Children’s Rare Chief Executive Disease Research. I am pleased to say Great Ormond Street Hospital that this project is now well underway. for Children NHS Foundation Trust

Six-month-old Lehreen is receiving total parenteral nutrition (TPN) on Squirrel Ward. Research Review 2012/13 07

Division of Research and Innovation report Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health’s (ICH) joint Division of Research and Innovation continues to support world-leading eorts in advancing paediatric medicine.

During 2012, we secured a second term the Centre for Translational Genomics, cent and the CRF is now working with 18 of funding for the GOSH UCL Biomedical incorporating the genomics and industrial partners who are supporting Research Centre (BRC). The National proteomics expertise from across UCL clinical trials. Institute for Health Research funds 11 so that it can become the leading BRCs across the country and is the children’s centre internationally in Through the BRC, we have developed a flagship scheme designed to support functional genomics. The continued strategy for patient and public involvement experimental medicine and the translation success in translation is represented by and engagement in research, which builds of research into patient benefit. the successful projects in which the centre on the success of activities led, for example, is able to identify the causative gene in the by the Medicines for Children Network. GOSH and UCL are the recipients of the different disorders. Currently, their overall Our strategy aims to involve patients and only dedicated paediatric BRC funding success rate is 40 per cent, which is very the public in our research at all stages. and have been awarded £36 million over high for a gene discovery programme of Patients and the public will be embedded in our research decision-making to influence five years (2012–2017). The focus of the this nature. BRC is rare diseases and will help maintain our strategy and ensure our research our status globally as a leading centre for GOSomics, established in 2012 as part of results in patient benefit. child health research. Our focus on rare the BRC in collaboration with the Biological These examples provide a snapshot of diseases leverages GOSH’s role as a Mass Spectrometry Unit within the ICH, is the activity made possible through our provider of more nationally commissioned a translational biomarker diseases facility BRC funding, and you can read about services for rare diseases than any other that supports the investigation of potential other excellent examples of our research NHS Trust. biomarkers in rare childhood diseases. in this report. Using state-of-the-art technology, GOSomics During our first round of BRC funding will aid the design of diagnostic tests and The Division of Research and Innovation (2007–2012), we conceived and funded help elucidate the disease mechanisms continues to grow to ensure research is the development of GOSgene to facilitate involved in rare diseases. The team are effectively supported across the rapid gene identification in uncharacterised currently involved with 18 different projects, organisation. Our focus for the forthcoming genetic disease. GOSgene brings UCL seven of which are collaborative with other year is to work closely with our clinical and ICH research expertise to principal groups and BRCs at UCL. divisions to further embed research within investigators and clinicians working with the Trust. congenital disorders. This enables the In 2012, BRC funding also allowed us to discovery of new genes and provides an expand capacity and manufacture gene We look forward to reporting on the success infrastructure and step-by-step guidance and cell therapy medicinal products more of these new initiatives in future years. for selected projects. flexibly. This facility underpins the gene therapy programme at GOSH, which has This initiative ultimately helps improve pioneered gene therapy for primary immune diagnostic testing, supports genetic deficiency. The programme, thanks in part counselling, and guides further functional to BRC funding, is now expanding its focus, Professor David Goldblatt analysis aimed at understanding the targeting treatments for multiple inherited Director of Clinical Research pathogenesis of disease and improving diseases, cancers and infectious disease, and Development patients’ management or developing novel as well as aiding transplantation technology. therapies. Continued funding has allowed GOSgene to increase its capacity, and Our Somers Clinical Research Facility has GOSgene is now able to process more delivered a growing volume of clinical and samples through its exome sequencing experimental medicine research within the Ms Emma Pendleton pipeline. This expansion has allowed Trust. During 2012, the number of clinical Deputy Director of Research the enterprise to mature and rebrand as trials conducted in the CRF grew by 25 per and Innovation

Freddie is having tests on King€sher Ward. He has to fast for 18 hours, which he isn’t looking forward to! Research Review 2012/13 09

The heart of our effort is translating the work into patient benefit. Europe’s first research centre to tackle birth defects One in 33 children in the UK is born with a birth defect, and around 40 per cent of children treated at Great Ormond Street Hospital (GOSH) have a disorder present from birth. Of the 4,000 known birth defects, some are very rare, while others such as spina bifida, cleft palate and Down’s syndrome, are more common. At the UCL Institute of Child Health (ICH), we have created Europe’s first centre dedicated to research into birth defects.

Professor Andrew Copp The Newlife Birth Defects Research Centre spinal cord in the early weeks of “I began my career as a scientist is a state-of-the-art laboratory, which opened pregnancy,” says Professor Copp. Some with a BA in Zoology and a in 2012. The centre brings together teams years ago, the team found that spina bifida Doctorate of Philosophy in of researchers who were previously housed could be prevented effectively in mice Experimental Embryology from the in separate buildings within the ICH. “By using a supplement called inositol. “It was University of Oxford. I began to see co-locating scientists in superb new labs, very exciting to identify a possible new how my scientific training could be we are providing an exciting opportunity approach to prevention that might in future clinically relevant to healthcare, for collaborative research,” says Professor be added to folic acid.” but I needed to gain a deeper Andrew Copp, Head of the Newlife Birth understanding of health problems. Defects Research Centre. “We hope the This early research culminated in a clinical Hence, after my Doctorate, I centre’s research will enable significant trial (the PONTI study), which is being applied for medical training at strides in understanding the causes of birth conducted throughout the UK, thanks to Guy’s Hospital, London. defects, and then developing new ways to support from the Medical Research treat or prevent them.” Council and SPARKS, a children’s medical “Throughout the clinical course, research charity. Women with a previous I moonlighted in research within Professor Copp highlights how research pregnancy affected by spina bifida are the Paediatric Research Unit at in the centre is inspired by clinical invited to join, and are then randomly Guy’s Hospital. I began working experiences at GOSH. “Working alongside allocated to receive inositol plus folic on a mouse model of spina bifida, leading clinicians ensures that children’s acid during their next pregnancy, or else which I am still studying today! needs remain at the heart of our research. folic acid alone. Professor Copp adds: I found the period of medical The clinical cases of birth defects seen “The preliminary PONTI study will finish training both varied and at the hospital are vital in shaping our in late 2013, and we are now planning a stimulating, as I moved seamlessly research questions. At the same time, larger scale, Europe-wide clinical trial. between learning how to manage researchers have the opportunity to go Our aim is to discover whether inositol patients on the ward and studying back to the hospital to translate their major is effective in preventing some cases of mouse embryos that failed to close research findings for patient benefit.” spina bifida, alongside folic acid.” their neural tube in the lab. I think this combination of scientific and Work at the new centre is broadly While research into birth defects clinical training was the best divided into three specialist areas. remains the core focus of the centre, possible preparation for the work Some researchers are working to identify training and public engagement are I am doing today.” the genes responsible for birth defects, also high priorities. “Ensuring our young particularly for rare genetic conditions. scientists become world-class experts will Others are studying the complex processes allow the centre to lead the way in birth involved in the development of embryos and defects research for years to come,” says using this information to discover the causes Professor Copp. He also recognises the of conditions such as spina bifida. A third role the centre could play in engaging with group of researchers are devising novel the public. “Families with children who therapies to treat or prevent some of these have birth defects have little access to conditions, for example using stem cells information on the latest research. In the and tissue engineering. future we would like to create a portal that provides them with sensible and accessible Professor Copp’s own team, which is information about the latest discoveries. co-directed by Professor Nick Greene, is Sadly, only a very small number of birth investigating the early events that lead to defects can currently be prevented. We spina bifida and related disorders. “We hope research conducted in the Newlife can only really move forward with new Birth Defects Research Centre will aid in treatments or prevention if we understand developing future treatments for children how and why the embryo fails to close its with these conditions.”

12 Research Review 2012/13

Gene therapy Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH) have led global advances in treating children born with an inability to fight infections. As one of the first centres worldwide to offer this remarkable treatment, Professor Adrian Thrasher and Professor Bobby Gaspar’s research has transformed the lives of children with these conditions.

“Just over 10 years ago, we became one While the first generation of gene therapy of the few centres in the world to begin trials proved remarkably effective, there trials of a revolutionary new form of therapy were still many things to learn. This has for children born with a genetic disorder enabled the development of much more called X-linked severe combined sophisticated vector and trial designs. immunodeficiency (X-SCID),” explains “In collaboration with other international Adrian Thrasher, Professor and Honorary groups we have recently begun several Consultant in Paediatric Immunology at new clinical studies. Early indications are GOSH and the ICH. Known as gene therapy, extremely promising,” says Professor the team has successfully treated a group Thrasher, who is supported by the of children with X-SCID. This success has Wellcome Trust and Great Ormond Street Professor Adrian Thrasher also been extended to children with three Hospital Children’s Charity. other rare immune system disorders: and Professor Bobby Gaspar As a world-leading centre for gene adenosine deaminase-SCID (ADA-SCID), “We started to work independently therapy, the team are also developing new X-linked chronic granulomatous disorder on gene therapy in the mid-90s approaches to fix the faulty gene itself. (CGD) and Wiskott-Aldrich syndrome. when we were PhD students at “At present we’re able to efficiently place the ICH. We began collaborating Children with these conditions have a a new working copy of the gene into a on one of the severest forms of compromised immune system, which child’s cell. Ideally we would like to fix the immunodeficiency, and developed gene at its own site using a cut-and-paste the first study in the UK – and only means they are unable to fight infection approach,” explains Professor Gaspar, who the second worldwide – to show and have to live in a sterile environment. is supported by Great Ormond Street that gene therapy can correct a This is the result of a mutation in a gene Hospital Children’s Charity and the Medical genetic disease. We could also see that affects either the development or the Research Council. The team are developing the potential of gene therapy to function of cells in their immune system. an alternative genetic method in which correct other immune disorders The conventional treatment for these molecular ‘scissors’ cut the faulty gene and inherited diseases, but we also conditions is bone marrow transplantation. away and replace it with the correct gene. understood that to make the This can have excellent results when a fully difference we needed to have a matched donor is found, but results are The team hopes to make gene therapy really broad research programme less successful with an unmatched donor. available to more patients with immune that stretched from basic science The team have been trialling a revolutionary disorders in the future. “Our aim is to in the laboratory to clinical scale this up to more patients here and implementation in the hospital. new treatment, gene therapy, which uses the child’s own cells to fix the genetic nationally so they too can benefit from defect. A vector – a disabled virus – acts the significant clinical improvements. “The last decade has been an Dedicated gene therapy facilities will give to place a working copy of the gene, extremely exciting time, building us the infrastructure to develop this form up our laboratory and clinical team manufactured in the laboratory, into a child’s of genetic medicine for more patients,” and seeing the programme expand bone marrow cells. These modified cells are says Professor Thrasher. to treat a number of different then reintroduced to the body. Now armed conditions. We have also been able with the vital genetic instructions that they The work exemplifies the unique to build significant relationships previously missed, these bone marrow partnership between GOSH and the ICH, with other major international cells grow into the full spectrum of immune combining scientific breakthroughs with centres and have pioneered the cells, which are crucial for fighting disease. medicine for patient benefit. Professor adoption of multicentre trials. “We hope the promising results of our Gaspar adds: “A decade on, gene therapy This aspect has been particularly gene therapy programme mean it will now has improved the life and health of many stimulating and clinically very be seen as an alternative to standard children with life-threatening immune rewarding. We are fortunate to be treatment,” says Bobby Gaspar, Professor diseases. With the tools we have available, in such an exciting and cutting-edge of Paediatrics and Immunology at the ICH we are broadening this therapy to treat area of medicine.” and Honorary Consultant in Paediatric other conditions such as metabolic Immunology at GOSH. disorders, HIV and skin disorders.”

14 Research Review 2012/13 Nina’s story by her mum Aga “When Nina was born, everything seemed “Within weeks of being transferred around her. We continue to have a strict fine, but after a period of time we noticed doctors diagnosed her with ADA-SCID. regime of cleaning hands, surfaces and she was not feeding properly and was Looking back, this was a turning point. even sterilising toys to stop her coming sleeping more than usual. We started to Nina started to receive vital treatment to into contact with infection as her immune become concerned and doctors soon replace a key enzyme her body was not system starts to build up. discovered she had developed multiple producing. She started to put on weight infections. Soon afterwards she was and the improvements she was making “The doctors and nurses at GOSH placed in isolation to stop her picking up offered the possibility of gene therapy have been amazing. They’re always infections. We had to scrub down and wear as a treatment. available to answer all our questions and masks and gowns before we could see her. their approach to treating Nina has been “Professor Bobby Gaspar discussed this extremely reassuring. This has given us “Doctors confirmed she had a life- option as an alternative to a bone marrow the hope that one day Nina will be able threatening immune disorder and we were transplant and earlier this year she was to lead a good quality of life.” told that Nina would need a bone marrow given the treatment. Since the treatment, transplant. As Nina’s health deteriorated Nina’s health has shown encouraging she was moved to GOSH. signs. However, we’re still very cautious Research Review 2012/13 15

Life Study: Understanding lives now and for the future Birth cohort studies follow the same group of children and their families from birth to adult life. These studies enable us to understand children’s early family, social, cultural, economic and physical environments and development and how, when taken together, these factors influence future health, wellbeing and life chances. Professor Carol Dezateux is leading the largest UK birth cohort study to date, Life Study.

Professor Carol Dezateux “We know from research based on the UK’s “We will capitalise on the UK’s strengths “My passion for paediatrics earlier birth cohort studies that a child’s in all areas of social, environmental, developed as a medical student. experiences and their family and wider clinical and biomedical science, drawing My interest in research came later, environment in the early years has a major on advances in a wide number of as a junior doctor looking after impact on their future health, wellbeing disciplines. We will work together with babies with acute bronchiolitis. and education,” explains Professor Carol leading researchers in many fields ranging 1 I realised that if I wanted to satisfy Dezateux, Director of Life Study , Professor from epigenetics to economics,” says my curiosity about its causes, I of Paediatric Epidemiology at the UCL Professor Dezateux. Institute of Child Health (ICH) and Honorary would need to research healthy “Another exciting part of the study is the babies before they became ill. Consultant Paediatrician at Great Ormond links we are developing with local and A Wellcome Trust fellowship Street Hospital (GOSH). “We need to national research centres, for example enabled me to develop my research understand this in more detail by focusing through our interests in epigenetics and ideas and bring laboratory science on pregnancy and the first year of life in the early development of the immune into populations. babies and their parents from different family, social and ethnic backgrounds system. This requires collecting a range “My research focuses on children’s across the UK. For the first time, we have of biological samples, such as placental health in the early years and its an exciting opportunity to bring biological, samples, at the time of birth.” Life Study improvement through prevention social and environmental sciences into a is working with the National Institute for or early detection. My experiences UK birth cohort study from the outset to Health Research Biomedical Research of leading research to collect understand how these influences combine Centre at GOSH and UCL to develop biological samples from young to shape children’s health and development.” protocols for sample collection. children in the UK Millennium Cohort Study taught me the Life Study will be the fifth in a series of With recruitment to the study due to begin importance of bringing together world-renowned UK birth cohort studies. in 2014, Professor Dezateux recognises biomedical and social scientists It builds on this exceptional legacy but at that partnership with the NHS and the at the outset when designing the same time has been designed with new public is key. “We can’t do this study such studies. features to ensure its future as a powerful without the full support and commitment and unique research resource well into the of clinicians and parents.” Working with “My ambition to develop a 21st century. It will involve up to 80,000 focus groups of parents and parents-to-be cohort with this cross-disciplinary babies and their families – much larger to find out what they think might encourage approach was realised when our than earlier studies. The rich and detailed or discourage parents from taking part, team was selected to design and information collected before birth, at birth Life Study is taking steps to achieve the lead the UK’s new birth cohort and during the first year of life will address participation of the thousands of families study. I am privileged to direct this gaps in knowledge about these very early needed. “In a study as ambitious in size exciting study and look forward to stages of life. and scope as Life Study, we are committed working with parents to chart the to placing children and families at its heart. With this in mind, the study has several early lives of their babies.” Families that take part will be supporting research themes chosen to answer research that will make a real difference to important questions that matter to the our understanding of children’s lives now health and lives of children now. One such and for the future,” she adds. theme addresses the rise in childhood obesity and physical inactivity – a major public health challenge. In order to reverse these trends we need to understand more 1 Life Study is funded by the Economic and Social Research Council, Medical Research Council, UCL and about how eating and physical activity the Wellcome Trust, and benefits from the government’s behaviours develop very early on in life. Large Scale Facilities Fund.

Research Review 2012/13 17 Targeting brain tumours Brain tumours are the second most common form of cancer in childhood. Great Ormond Street Hospital (GOSH) sees more children with brain tumours than any other centre in the UK. Dr Darren Hargrave, Consultant Paediatric Oncologist at GOSH, is collaborating to build a strategy that translates scienti’c discoveries into better therapies for children with brain tumours.

Dr Darren Hargrave “Survival rates in certain types of brain we have developed a ‘gene signature test’ “I was inspired to devote my tumour have vastly improved over the that predicts which patients will respond career to treating and researching last couple of decades,” says Dr Hargrave. to a new targeted therapy and have childhood brain tumours by my “This has been achieved through clinical successfully completed a phase I/II clinical mentor and friend Professor trials using combinations of conventional trial.” Dr Hargrave is now building on this Eric Bou‡et who I worked for at treatments such as surgery, radiotherapy result by leading a pivotal international the Royal Marsden and Hospital and chemotherapy. However, for other phase III clinical trial that will test this novel for Sick Children in Toronto, types of childhood brain tumours, for therapy against conventional chemotherapy Canada. My passion for translating example high-grade gliomas and diffuse treatment for relapsed medulloblastoma. the biology of disease to novel intrinsic pontine glioma, the outcome has Another vital aspect of his clinical research treatments for children with cancer not significantly improved.” is to improve tests that measure the effects came from my doctoral research. Dr Hargrave is leading a strategy that aims of cancer therapies. “Standard brain Under my supervisor, Professor to develop new treatments for children with imaging techniques such as magnetic Sir Mike Stratton, I learnt about brain tumours where the current prognosis the power of using genetic resonance imaging (MRI) provide you with is poor. The programme brings together information on the size and location of the technology to unravel the driving experts and resources from three of the forces of cancer. tumour. However, these methods provide largest paediatric brain tumour research little in the way of how active the tumour is. “My research has combined these and treatment centres in the UK. “To This information is important when two inžuences to lead clinical trials develop treatments for children with these managing a child’s treatment,” he explains. of novel drugs in childhood cancer high-risk brain tumours we have identified and speci’cally brain tumours. a series of collaborative research initiatives. Working collaboratively with colleagues Working with Cancer Research These initiatives combine research into at University College Hospital, UK, I recently completed a ’rst-in- basic science, neuropathology, drug Dr Hargrave is combining these imaging child trial of a new drug in children development and clinical investigations,” techniques with nuclear medicine. This with relapsed cancer. I am the UK explains Dr Hargrave, who is supported combination provides functional information lead of two major international by Great Ormond Street Hospital Children’s about tumour activity such as blood flow studies investigating targeted Charity, Cancer Research UK and the and metabolism. “If we have more accurate treatments for high-risk brain National Institute for Health Research measurements of tumour activity we will be tumours, which are both running Biomedical Research Centre at GOSH able to inform children and their families at GOSH.” and UCL. much earlier about the effectiveness of The starting point involves unravelling treatment,” says Dr Hargrave. Thanks to the causes of high-risk brain tumors. the support from the Dorothy and Spiro “Advances in DNA technology over the last Latsis Benevolent Trust he is also looking 10 years have allowed us to improve our to improve the diagnosis and monitoring knowledge of individual brain tumours at of children with low grade glioma. an unprecedented rate and resolution. We One of the key themes running through can harness the power of this technology Dr Hargrave’s clinical research has been to identify specific molecular defects in the need to extensively collaborate with these tumours,” says Dr Hargrave. leading scientists both nationally and At the other end, Dr Hargrave will use his internationally. “We want to leverage the vast experience in clinical trials to translate best science that already exists out there these scientific discoveries into patient without reinventing the wheel and combine benefit. He points to the recent success that with our experience of driving new of this strategy in a brain tumour called drugs into clinical trials. At the heart of this medulloblastoma. “By analysing tissue effort is translating the work into patient samples from medulloblastoma, benefit. I am hopeful that by the time I retire researchers have identified different we will have introduced better treatments molecular defects in this type of tumour. that will significantly improve the outcome Working with a pharmaceutical company, for children with high-risk brain tumours.” 18 Research Review 2012/13 Our story

“Our son was diagnosed with a condition known as neuro’bromatosis type 1 (NF1) about six months after birth. Although a shock, there were no complications at the time, and life returned to normal with his condition put to the back of our minds. However, at the age of four, a routine eye test revealed seriously impaired vision in his left eye. e ophthalmologist suspected a tumour and we were sent to GOSH to meet an oncologist.

“Associating words like ‘tumour’ and ‘oncologist’ with your child is a parent’s worst nightmare. Our lives were turned upside down overnight while we attempted to retain a sense of normality at home for the sake of him and his younger brother. is was helped immensely by Dr Hargrave and the Oncology team, who carefully explained the nature of the tumour and what they hoped to achieve through a course of chemotherapy.

“After four months of treatment, he developed an allergy to his chemotherapy. Dr Hargrave suggested an alternative chemotherapy, which he had developed with colleagues in Canada. Although this required weekly doses, he tolerated it much better and his quality of life improved on a daily basis. Following a further nine months of treatment, the tumour and his vision was stable and we are now monitoring him regularly to check that this remains the case. He has been through more than most young children, but has remained strong and cheerful throughout.

“Although the optic nerve of his left eye has been damaged, preventing further tumour growth will preserve his right eye and the remaining sight in his left eye. Without the dedication of the team at GOSH, this hope would not be possible and we continue to rely on their support.”

Advanced MRI of the optic tracts. Courtesy of the Imaging and Biophysics Unit, the UCL Institute of Child Health.

Life-saving vaccines Immunising children is all about preventing infections and saving lives. As Head of the Immunobiology Unit at the UCL Institute of Child Health, Professor David Goldblatt’s work has contributed to the introduction of life-saving vaccines into the UK childhood immunisation programme. His global efforts could also lead to better immunisation strategies for children in developing countries.

Professor David Goldblatt “Childhood immunisation programmes ways of reducing childhood rates of “Recognising the signs of a have been extremely effective in protecting infectious disease in developing countries. disease and providing treatment children from serious infections,” says “In some parts of the underdeveloped world, is important for a medical doctor, Professor Goldblatt, Director of Clinical such as Africa, there is a very high exposure but from early on in my medical Research and Development at Great to the pneumococcus early in life. Here student days in Cape Town, I was Ormond Street Hospital (GOSH) and the World Health Organisation (WHO) curious about the causes and Director of the National Institute for Health immunisation scheme is followed, with origins of diseases. Research Biomedical Research Centre infants beginning vaccinations at six weeks at GOSH and University College London. of age. However, by six weeks of age in “My desire to pursue research His laboratory has been at the forefront some African countries, 15 per cent of was stimulated when I arrived at of efforts to introduce new life-saving serious pneumococcal disease will have GOSH in 1986. I was working vaccines into these programmes. already occurred. We therefore performed a as a Senior House Officer on the “In the early 2000s, a new vaccine study with colleagues at the Kenya Wellcome haematology/oncology ward, where Trust unit in Kilifi to assess whether we could children undergoing bone marrow became available with the potential to prevent childhood infections caused by protect infants earlier by administering PCV transplantation were cared for. at birth,” says Professor Goldblatt. I was helping to look after a child the bacterium, Streptococcus pneumoniae who had undergone a bone marrow (pneumococcus). At that time, “Our work showed two things. Firstly, and transplant because of an immune pneumococcus was the leading cause of most importantly, vaccination at birth was deficiency. This experience and bacterial meningitis in the UK. While the safe. Secondly, the dose given at birth was contact with the Immunology team, UK was keen to introduce this vaccine, able to induce antibody responses. Giving infants in the UK were already receiving led at that time by the late Professor the first dose of vaccine at birth could two injections at each immunisation visit, Roland Levinsky, a fellow South provide young infants an earlier window in and this would add a third injection to African, stimulated my interest in which to be protected from these serious the schedule, thought by some to be immunology. infections. Furthermore, incorporating unacceptable. We therefore tried to devise immunisation at birth may improve vaccine “I always had a natural interest a way of delivering the new pneumococcal coverage in countries where access to in infectious diseases, and so conjugate vaccine (PCV) using fewer doses healthcare facilities is challenging.” during my PhD I combined these than recommended on the licence at two interests to look at immune the time, and thus administering fewer Thanks to support from the Department responses to infection. Following injections,” explains Professor Goldblatt. of Health, Wellcome Trust, WHO and the this, there was a very clear link Working collaboratively with Public Health Gates Foundation, Professor Goldblatt to understanding the immune reflects on the different global challenges response to vaccines, so in the England (formerly the Health Protection Agency) Professor Goldblatt’s team were the facing immunisations. “As we get better at early 1990s I set up my vaccine providing vaccines to the infant population in evaluation laboratory. first in the world to show that PCV was likely to provide protection with a total of three the Western world, many families thankfully “Seeing the impact of one’s vaccine rather than the recommended four doses. do not see the consequences of infectious research on children’s lives makes The study provided the evidence needed disease. The challenges here are to maintain this an extremely rewarding area for the UK government to add this life-saving high levels of vaccination, as a reduction in to work in.” vaccine to the UK infant immunisation the overall percentage of infants immunised programme in 2006. Now routinely given to could lead to a resurgence of disease as we all children, the vaccine provides significant have seen recently with measles.” protection to children from these devastating “In contrast, the risk of disease in the infections. Capitalising on the UK developing world is all too evident. Here the experience, countries all over the world have introduced PCV as a routine childhood challenges are to ensure vaccination is immunisation with only three doses. provided and accessible to all children and that new vaccines, such as PCV, are rapidly Building on this success, Professor made available and affordable in resource- Goldblatt has also focused on studying poor settings,” adds Professor Goldblatt.

Research Review 2012/13 21 Fay’s story by her mum Lucy

“It was only after Fay was born that we realised something was wrong. She was born with a very large dark and disfiguring mark that covered about 70 per cent of her body. Although we were later informed she had congenital melanocytic naevus (CMN), we knew little about this condition. All I wanted to do was go home and wrap my little family in a cocoon.

“When Fay turned six months she was referred to GOSH. Initially we were seen by Dr David Atherton, and since then we have been under the care of Dr Veronica Kinsler. They helped explain Fay’s condition in detail and were able to answer all of our questions. Through their support we have become more understanding of Fay’s condition.

“At eight months, Fay had an MRI scan, which thankfully showed no underlying problems beneath the skin. Fay now attends Dr Kinsler’s clinic every four months where she is monitored closely due to the extent of her CMN. The doctors at GOSH have been amazing.

“Fay does not let her condition stop her doing what she wants to do. She is a very bright, happy and bubbly girl with a lot of confidence. She particularly enjoys street dancing and has entered competitions up and down the country.

“We are extremely grateful to Dr Kinsler for her commitment and dedication to research into skin disorders. The breakthrough she made in identifying what causes CMN highlights how important research is to us and children like Fay and their families. We never thought such an achievement would be made in such a short space of time.” Getting under the skin of birthmarks Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH) are leading research into a rare skin condition. Starting in the 1980s, the Paediatric Dermatology department established a database for affected individuals in the UK. Earlier this year, Dr Veronica Kinsler made a breakthrough in identifying the cause of this condition.

Dr Veronica Kinsler “Multiple congenital melanocytic naevi, The other 20 per cent are still being “I was inspired to do this research or CMN, causes large dark moles on the investigated to determine the cause of by my long-term clinical mentor, skin that are present at birth. They can the condition in their cases. Dr David Atherton, and by the vary in size and number and the incidence of larger or multiple moles is approximately This research could also help understand desperate lack of treatments for other conditions. The gene pinpointed in children with CMN. The patient one in 20,000 new births per year. The majority of children born with this condition the study is known to be involved in the support group, Caring Matters development of melanomas, a particular Now, generously funded my in the UK will be seen at GOSH,” says Dr Veronica Kinsler, Academic Lead type of skin cancer. It explains why patients salary for three years to allow with CMN have an increased risk of me to start researching, and this Clinician for Paediatric Dermatology at GOSH and the ICH. melanoma, and the researchers found that helped me to obtain a prestigious the patients need to develop a second research fellowship from the Such conditions cannot be picked up mutation to change the moles into cancer. Wellcome Trust. on ultrasound scans during pregnancy, Building on this successful finding, “I joined Professor Gudrun leaving parents with a considerable shock when their baby is born. Referrals to a Dr Kinsler is keen to accelerate research Moore’s team in Genetics at into other rare dermatology diseases. the ICH, and very excitingly place like GOSH, which has the expertise in the diagnosis and management of CMN, Earlier this year, she set up the GOSH Rare we found the gene that causes Dermatology Diseases Resource. “This CMN, for which I received a mean parents are provided with much- needed information early on. In the weekly resource harnesses the enormous potential prize from the Academy of that exists within the Paediatric Dermatology Medical Sciences in 2013, and clinics run by Dr Kinsler, moles are checked to ensure they are safe and department at GOSH. It aims to overcome the CDA trophy from the British some of the challenges faced when Association of Dermatologists children are assessed to see whether the brain needs to be checked with a scan. conducting research into these conditions. in 2013. By systematically collecting samples from “I am very proud to be part Earlier this year, in a study led by patients who attend our clinic, we can of GOSH and the ICH, one Dr Kinsler, the team made a major accelerate research into identifying the of the few places in the world to breakthrough in identifying the cause causes of these conditions and work investigate rare paediatric skin of CMN. “This is an important discovery towards developing new treatment options,” diseases. My ambition is to take for children who have CMN. The discovery says Dr Kinsler. Now as part of the this research forward to find of the genetic cause means we can now Livingstone Skin Research Centre for treatments for CMN, and to start to look for ways to treat this serious Children she has also been supported by investigate other untreatable condition,” she says. the Wellcome Trust, Caring Matters Now, skin diseases in children.” Leah Wigmore Melanoma Fund and the The breakthrough is the discovery that this Butterfly AVM Charity. condition is caused by a mutation in a gene called NRAS. This mutation occurs To date, the resource has already recruited while the baby is growing in the womb, 50 families. “It also enables doctors at the meaning that parents can be reassured hospital to put families in touch with others that the condition is not inherited and with the same diagnosis if they wish. This cannot be passed on to future children. provides support to children and families This gene mutation is found in at least similarly affected by these conditions,” 80 per cent of the patients with CMN. she adds.

Research Review 2012/13 23 Reproductive development Disorders of sex development (DSD) are a group of rare conditions affecting the development and function of the reproductive organs. Professor John Achermann, a Wellcome Trust Senior Research Fellow in Clinical Sciences at the UCL Institute of Child Health, combines his clinical expertise in caring for children with DSD and their families with his scientific work aimed at finding the cause of these conditions.

Professor John Achermann “DSD often come to our attention 20 per cent of children with DSD. “We have “I have always had an inquisitive because of variations in the way a baby’s known for some time that SF-1 plays a key mind, feeling the need to push genitals appear at birth. These conditions role in the development of the reproductive the boundaries of our scientific can also first present when a child doesn’t organs. What is now emerging is that knowledge and combining this enter puberty at adolescence or in some changes in the gene coding for SF-1 are with finding better ways to support forms of infertility in later life,” says responsible for a spectrum of conditions patients. During my paediatric Professor Achermann. He strongly believes including some that present later in life,” medical training, I was exposed that trying to achieve an exact diagnosis says Professor Achermann. early on is an important step in helping to the field of endocrinology Working collaboratively with researchers (hormones). The attraction to children and their families manage these challenging conditions. in France, his team discovered that genetic endocrinology was the broad alterations in SF-1 are responsible for some spectrum of science, ranging Since 2006, as an Honorary Consultant forms of primary ovarian insufficiency, a from genetics to psychology. in Paediatric Endocrinology at Great condition where the ovaries stop functioning “After completing a doctorate in Ormond Street Hospital (GOSH), Professor normally in women who are younger than London, I undertook a three-year Achermann has been involved in the 40. The research offers the hope of fellowship at Northwestern hospital’s DSD multidisciplinary team. developing a possible diagnostic test, University in Chicago. This led to Consisting of specialists in urology, particularly for women with a family history a specialist interest in adrenal and gynaecology, biochemistry, genetics, of premature ovarian failure, or in the reproductive biology. psychology and endocrinology, the DSD evaluation of prospects for treatment of team aims to carefully plan the management primary ovarian insufficiency. “When I came back to the UK I was of children with these conditions. “Disorders able to obtain a prestigious clinician of sex development can have a wide range His team are also investigating cases scientist award from the Wellcome of causes, each requiring a potentially where a specific diagnosis cannot currently Trust, who have since supported me different approach to their management,” be reached. “One approach our laboratory through their clinician scientist explains Professor Achermann. “Working has taken is to manipulate the levels of programme. I have been extremely as a multidisciplinary team is essential in SF-1 in cells to identify new genes that grateful for these opportunities as pooling everyone’s skill and expertise.” might be controlled by SF-1. In parallel, they allow me to strike a balance we are collecting samples from patients to between inquisitive research and He adds: “The optimal care for each child see whether these newly identified genes research that can translate into has to be considered on an individual basis. are involved where the cause remains patient benefit. We gather as much information as possible unknown. We hope that by understanding early on through careful examination, the biology of reproductive development “I’ve always enjoyed working with blood tests, genetic tests and biopsies we will be able to improve diagnosis and children. There’s a great sense of if appropriate, to allow us to make the best help us to manage these conditions better, satisfaction when you are able to recommendations. We take a long-term both in the shor-term and long-term,” help a child and support their family. approach and need to consider factors says Professor Achermann. Being part of a multidisciplinary such as the child’s likely gender identity team is also fulfilling as you learn to when they grow up, options for fertility and Reflecting on this clinical work, he appreciate the contributions different any potential risk of developing tumours. recognises that an exact diagnosis is healthcare professions make to At the core of this is working closely with just the first step. “Our DSD clinic means overall care, and respect everyone’s families to provide care and support that we are able to offer children and their role in the process.” are in the best interests of the child.” families early support and assessment by an experienced multidisciplinary team. Much of Professor Achermann’s laboratory We would now like to define better research has focused on the role of a pathways of management and support for transcription factor, responsible for turning individuals and families with DSD and to genes on and off, called steroidogenic provide a seamless transition in long-term factor-1 (SF-1). His work has established support and management as children that disruption of SF-1 occurs in around become adults.”

24 Research Review 2012/13

Defending the body while tolerating ourselves The immune system works to protect us against a variety of infections. At the same time, it is programmed to ignore normal healthy cells. Dr Masahiro Ono, Senior Research Fellow at the UCL Institute of Child Health’s Immunobiology Unit, is taking a multidisciplinary approach to understand how a group of disease-fighting cells maintain this fine balance.

Dr Masahiro Ono “Our immune system is made up of a Building on this discovery he is now “I first trained as a dermatologist complex network of cells that co-ordinate investigating the counterpart of regulatory in Japan, where I became aware the body’s defense against disease- T-cells: memory T-cells. “The immune of how certain diseases had limited causing organisms”, explains Dr Ono. system has a remarkable ability to options for treatment. In those “At the heart of this system are a group ‘remember’ the strategy it used to defeat early days, I was involved in of disease-fighting cells known as T-cells. a previous infection – a function performed collaborations with agricultural Their importance is highlighted in by memory T-cells. This enhances our scientists to diagnose a rare fungal conditions such as HIV where the virus ability to fight common infections. infection. This study revealed a specifically attacks them, rendering the Nevertheless, it can be a hindrance in deficit in a patient’s immunity. body susceptible to infections.” autoimmune conditions where it continues to remember healthy parts of the body as The experience not only taught me “While the immune system plays this vital a foreign object,” says Dr Ono. He is now the importance of multidisciplinary role in providing protection, it also needs researching which genes are involved in research, but ignited my interested to strike a delicate balance to ensure activating memory T-cells, following the in the immune system. normal healthy parts of the body remain award of a prestigious Biotechnology and “I later trained as an immunologist untouched. For example, in conditions such as multiple sclerosis and rheumatoid Biological Sciences Research Council and began specialising in research (BBSRC) David Philips Fellowship. into the regulation of the immune arthritis, or following organ transplantation, system using genes involved T-cells can mislead the immune system “One approach we’re taking is to see in autoimmune diseases such to attack the body. Understanding how how, when and where memory T-cells as rheumatoid arthritis and exactly this precise balance is preserved are activated,” explains Dr Ono. He multiple sclerosis. has been a key question in immunology,” draws comparison of this work with the says Dr Ono. neuroscience field. “In neurosciences, “Since being awarded a BBSRC visualisation techniques have very much Fellowship, and with the broad He believes that by learning how T-cells can activate or suppress the advanced this area. By visualising the expertise I have developed activity of the immune system at the gene throughout my career, I am immune system to maintain this balance is essential in understanding how the level, we will be able to identify how aiming to identify a novel way of memory T-cells are controlled, and how controlling the immune system, immune system fights infection while immunological memory is formed.” and thereby contribute to the tolerating the body. His research focuses on two subpopulations of T-cells, improvement of children’s health.” While understanding individual T-cell regulatory T-cells and memory T-cells. functions remains important for Dr Ono, the Regulatory T-cells suppress the immune future lies in piecing together the complex response after eliminating a foreign nature of the immune system. He adds: organism. However, oversuppression of “The immune system is a multidimensional the system can compromise the body’s system. It relies on an elaborate and ability to fight an infection. During his early dynamic communications network that career in Japan, Dr Ono identified a key exists among the many different kinds gene switch by which regulatory T-cells of immune cells. In order to effectively exert their effect. “Our research revealed manipulate and specifically control that a key gene in regulatory T-cells, Foxp3, the immune system, we need to fully was hijacking the genetic machinery of understand the interactions between all normal T-cells and turning them on or off,” T-cells. This will be critical for the future says Dr Ono. development of new medicines.”

Visualising the immune system. Pink cells are regulatory T-cells, while those not in pink include memory T-cells. Research Review 2012/13 27 It’s not every day that you have the opportunity to discover something that could change the lives of children.

Working with UCL Business PLC UCL Business PLC (UCLB) is responsible for managing and exploiting intellectual property (IP) arising from both Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH).

UCLB’s work aims to maximise the Consultant Plastic and Reconstructive developed by Dr Anne Hunt (now at positive social, health and economic Surgeon Mr David Dunaway are developing the University of Central Lancashire) benefits of discoveries made at GOSH novel bone distraction devices that will be in collaboration with the Royal College and the ICH. UCLB’s team of highly used during craniofacial surgery. UCLB of Nursing, was sold to a major experienced business managers work is providing IP and patent support, and pharmaceutical company conducting closely with researchers and clinicians to through proof of concept funding, its clinical studies of new therapies for pain. bring technologies through the journey specialist subsidiary, UCLB Devices Ltd, from invention to market. is supporting the regulatory aspects of In collaboration with GOSH and ICH, the project. UCLB is supporting the development of This year, UCLB launched an exciting new social enterprise initiatives. Social new joint proof of concept fund with the A new patent has been filed by Dr David enterprise is a vibrant and growing sector, National Institute of Health Research Long and Professor Paul Winyard at the which offers significant potential to Biomedical Research Centre at GOSH ICH who are exploring novel ways to treat strengthen the use of scientific evidence and University College London. This polycystic kidney disease. They have for practice at local and community levels, funding supports the essential work discovered that targeting the lymphatic and to help demonstrate the impact that required to transform an idea developed system, using growth-factor modulating research can have on the lives of people. by our local paediatric researchers and agents, has a therapeutic effect in clinicians into a proven innovation. In laboratory models of the disease. UCLB One such project emerging from the addition, a number of new patents were is currently approaching commercial research of Professor Atul Singhal filed and UCLB looks forward to supporting partners to develop these findings into and Dr Julie Lanigan is the Trim Tots and promoting the development of these new medicines for patients. programme. Reaching out to children and new approaches over the coming months families, Trim Tots aims to promote healthy and years. Professor Simon Heales, in collaboration living within the community. Looking to the with colleagues at the UCL Institute of future, UCLB is working closely with this To enable anaesthetists to have ready Neurology and Royal Holloway, University team to develop a social enterprise that access to potentially life-saving drug delivery of London, continues to develop new will aim to maximise the social impact of information, Dr Philip Cunnington and his fatty acids with the potential to control this obesity intervention for preschool colleagues from the Anaesthetic department neurological seizures. Working closely age children. at GOSH are developing an iPhone app with Vitaflo, a UK company specialising based on their Drug Administration and in foods for special medical purposes, UCLB looks forward to continuing its work Departmental Practice Guidelines. they have filed several patents in this area. with GOSH and the ICH to ensure that new Through proof of concept funding, UCLB UCLB aims to develop this innovation into ideas have the potential to become a real is supporting the development of this a food formulated for dietary management device, diagnostic tool or treatment for the application as well as licensing the app of epilepsy. benefit of children. to UBQO Ltd, a specialist phone app developer, for worldwide distribution. Other notable advancements include For additional information, please contact the sale of data presentation software, Dr Chris Williams, UCL Business PLC As part of the Face Value project, developed by Mr Jez Philips and T +44 (0)20 7679 9000 funded by Great Ormond Street Hospital colleagues at GOSH, to another major E [email protected] Children’s Charity, Consultant Paediatric NHS trust. In addition, a paediatric patient www.uclb.com Neurosurgeon Mr Owase Jeelani and recorded outcome measure for pain,

30 Research Review 2012/13 Awards, honours and prizes Staff from Great Ormond Street Hospital and the UCL Institute of Child Health received national and international recognition for their research achievements during 2012/2013.

Professor John Achermann was Professor Anthony Costello was Policy and Practice by the Commonwealth awarded a renewal of his Wellcome Trust appointed to the role of Pro-Provost Fund, New York, and supported by the Senior Clinical Research Fellowship. for Africa and the Middle East. Nuffield Trust and National Institute of Health Research. Dr Elham Al-Jaaly was awarded a PhD Professor Mehul Dattani was elected for her thesis, Factors affecting nutritional as Chair of the Programme Organising Professor Peter Hindmarsh became a status and eating behaviours in Saudi Committee of the European Society for member of the Council of Healthcare Arabian adolescent girls. Paediatric Endocrinology. Professionals, Diabetes UK.

Dr Maria Alonso-Ferrero received joint Dr Rachel Denholm was awarded a Dr Rebecca Hope won a prestigious Frank first prize in the British Society for Gene PhD for her thesis, Investigating the Knox Fellowship to undertake The Master Therapy poster competition. effects of child maltreatment and household of Public Health degree in Harvard. dysfunction on child physical development Dr Cynthia Andoniadou was awarded in a British birth cohort. Dr Miho Ishida was awarded a PhD for her thesis, The role of imprinted genes in the European Society of Endocrinology Professor Carol Dezateux was awarded human fetal growth. Poster Prize at the Joint 15th International WellChild Researcher of the Year. Congress of Endocrinology and 14th Dr Tomas Jacques became Secretary European Congress of Endocrinology. Dr Robert Edgar was awarded a to the clinical practice group of the British PhD for his thesis, Kallikrein inhibition Neuropathological Society. Dr Owen Arthurs was awarded a in major surgery. National Institute for Health Research Dr Sujatha Jayakody was awarded a PhD Clinician Scientist Fellowship. Dr Despina Eleftheriou was awarded a for her thesis, Investigating genetic factors PhD for her thesis, Endothelial injury and underlying hypopituitarism and septo-optic Dr Diane Berry was awarded a PhD repair in childhood arterial ischaemic stroke. dysplasia in humans. for her thesis, Analysing the association of vitamin D status on selected Dr Jonathan Fisher was awarded a Dr Peter Jones was awarded a PhD for cardiovascular risk markers using Wellcome Trust/Sparks Research his thesis, Haemodynamic instability during seasonal and genetic variations. Training Fellowship. the intubation of critically ill children.

Dr David Beran was awarded a PhD Dr Jonathan Fishman was awarded a Dr Jacqueline Jonuschies was awarded for his thesis, Developing a hierarchy Medical Research Council Centenary a PhD for her thesis, The assessment of of needs for type 1 diabetes. Fellowship. He won the Wesleyan-Royal lentiviral vectors for transgene expression Society of Medicine Young Trainee in myoblasts. Dr Debbie Briggs was awarded a PhD of the Year Award and was also awarded Dr Veronica Kinsler was awarded a for her thesis, An investigation into sub- best paper/manuscript of the year by the PhD for her thesis, Studies of congenital populations of satellite cells and myoblasts. Journal of Laryngology and Otology. melanocytic naevi. She was also awarded Dr Claire Booth was awarded a Dr Alessandra Frigiola was awarded a the CDA trophy from the British Association PhD for her thesis, Lentiviral vector MD(Res) for her thesis, Right ventricular of Dermatologists and was the winner mediated gene therapy for X-linked outflow tract dysfunction following repair of a poster competition at the Academy lymphoproliferative disease. of congenital heart disease: surgical of Medical Sciences. solutions and clinical implications. Dr Emma Chan was awarded a PhD for Dr Jane Kirkby was awarded a PhD for her thesis, Lentiviral gene therapy for HIV Professor David Goldblatt was awarded her thesis, Applications and interpretation a National Institute of Health Research of paediatric lung function tests in health using TRIM-cyclophilin restriction factors. Senior Investigator Award. and disease. Dr Timothy Colbourn was awarded a Dr Michelle de Haan received the Dr Manju Kurian was awarded a Wellcome PhD for his thesis, Investigating the use Distinguished International Alumni Award Trust Intermediate Clinical Fellowship. of women’s groups in Malawi: adapted from the University of Minnesota. quality of life measurement, best-worst Dr Stavros Loukogeorgakis was scaling choice experiments and Dr Dougal Hargreaves was awarded awarded a Wellcome Trust Postdoctoral contingent valuation. a Harkness Fellowship in Health Care Training Fellowship.

Research Review 2012/13 31 Awards, honours and prizes continued

Dr Panagiotis Maghsoudlou was Dr Shamima Rahman gave the plenary Dr Holly Stephenson was awarded a PhD awarded a Medical Research Council lecture to the Annual Symposium of the for her thesis, Innate immune recognition of Centenary Fellowship. Society for Endocrinology. glycosylated surface determinants of Campylobacter jejuni. Dr Anna Matheson was awarded a Dr Saba Raza-Knight was awarded a PhD for her thesis, The influence of facial PhD for her thesis, The role of Zic2 in Professor Terence Stephenson was motion on the neural response during spinal neural tube orphogenesis. appointed as the new Chairman of the emotion perception in typical and Academy of Medical Royal Colleges. atypical development. Dr Suzanne Rix was awarded a PhD for her thesis, The role of IFT80 in the Dr Sophia Monica Varadkar was awarded Dr Fiona McElduff was awarded a molecular pathogenesis of short rib a PhD for her thesis, Kynurenine pathway PhD for her thesis, Models for discrete polydactyly syndromes. metabolites in childhood brain diseases. epidemiological and clinical data. Dr Michele Rosato was awarded a Dr Gilma Olaya Vega was awarded a PhD Dr Halima Moncrieffe was awarded an PhD for his thesis, How does community for her thesis, Development and evaluation Arthritis Research UK Travelling Fellowship. mobilisation through women’s groups work? of the effects of new complementary feeding Addressing the social determinants of guidelines with an emphasis on red meat Professor Gudrun Moore was elected maternal and child health in rural Malawi. consumption on iron and zinc status and Fellow ad eundem of the Royal College growth in infants living in Bogota, Colombia. of Obstetricians and Gynaecologists. Dr Julie Sanders was awarded a PhD for her thesis, The development and validation Dr Stefania Vergnano was awarded a Professor Marie-Louise Newell was of a scoring system to assess post-operative PhD for her thesis, Verbal autopsy for awarded the Fellowship of the University morbidity following cardiac surgery: the stillbirth and neonatal deaths – comparing of KwaZulu-Natal in South Africa and was cardiac post-operative morbidity score. population cause specific mortality fraction also elected to the Fellowship of the using two methods. Academy of Medical Sciences. Dr Gayatri Sharma was awarded a PhD for her thesis, Methods for the measurement Dr Aoife Waters was awarded a Medical Dr Gemma Northam was awarded the of urinary biomarkers of oxidative stress- Research Council Clinical Research Neonatal Society Young Investigator Prize. application to type 1 diabetes mellitus. Training Fellowship. Dr Masahiro Ono was awarded a Dr Ameenat Olufunmilola Solebo was Dr Emma Webb was awarded the Biotechnology and Biological Science awarded a PhD for her thesis, National Donald Paterson Prize by Royal College Research Council David Phillips Fellowship. study of primary intraocular lens of Paediatrics and Child Health. Dr Anna Pearce was awarded a Medical implantation in children aged < two years old with congenital and infantile cataract. Professor Bryan Winchester was awarded Research Council Population Health a ‘Clé du Lysosome’ by the organisation Scientist Fellowship. Professor Lewis Spitz received an Vaincre les Maladies Lysosomales. Dr Valerie Pereira was awarded a honorary Fellowship from the American College of Surgeons. He also received Dr Michael Yoong was awarded a PhD for her thesis, The effect of maxillary PhD for his thesis, Convulsive status advancement on speech, nasality and the Ladd Medal of the American Academy of Paediatrics. epilepticus: prolonged childhood seizures velopharyngeal function in cleft lip and their consequences. and palate. Dr Giorgio Stefanutti was awarded a Professor Kathy Pritchard-Jones was PhD for his thesis, Novel experimental elected to the Fellowship of the Academy therapies for intestinal ischaemia and of Medical Sciences. reperfusion injury.

32 Research Review 2012/13

Grants and donations Great Ormond Street Hospital and the UCL institute for Child Health continue to receive grants and donations towards research from the following individuals and organisations:

A Butterfield Trust F Abbott Laboratories Ltd The Butterfly AVM Charity F. Hoffman-La Roche Ltd Abbott Nutrition Fidelity Worldwide Investments The Academy of Medical Sciences C Fight for Sight Accovion Gmbh Canadian Institutes of Health Research Merrill, Amelia and Tatiana Fitzgibbons Actelion Pharmaceuticals Cancer Research UK Fondation Genevoise de bienfaisance Action Medical Research Caring Matters Now ‘Valeria Rossi di Montelera’ Action on Hearing Loss [previously John Caudwell Fondation Leducq known as The Royal National Institute CHDI Foundation Inc Fondazione Livio Patrizi for Deaf People (RNID)] Child Growth Foundation Donald Forrester Trust AFM Téléthon (Association Française Child Health Research Appeal Trust Foundation for the Study of Infant Deaths contre les Myopathies) CHILDREN with CANCER UK Agilent Technologies Ltd Children’s Arthritis Trust G Alexion Pharmaceuticals Children's Cancer and Leukaemia Group Généthon The Alternative Hair Charitable Foundation Children's Liver Disease Foundation Gentium Spa AMAG Pharmaceuticals The Children's Research Fund Genzyme Corporation Arle Capital Partners Limited Ashton and Tilly Clanfield GlaxoSmithKline Arthritis Research UK CLEFT GlycoVaxyn AG Asthma UK The Clinical Endocrinology Trust Granaway AstraZeneca UK Ltd Clinique Great Ormond Street Hospital Association for International Cancer Research CLRN Contingency Funding Great Ormond Street Hospital Association of Clinical Biochemists Colgate-Palmolive Children’s Charity Association of Paediatric Anaesthetists CREA The Guide Dogs for the Blind Association of Great Britain and Ireland Cystic Fibrosis Trust Deborah Gulperin Augustea Group AusAID D H Danone Baby Nutrition (Nutricia Ltd) Guy and Julia Hands B Dr Genevieve and Mr Peter Davies Heart Research Barnet Primary Care Trust Deafness Research UK The Headley Trust Baxter Healthcare Corporation DEBRA Austria Hestia Foundation Baxter Healthcare Ltd Department of Health Higher Education Funding Council Baxter Innovations GmbH Department of Health and Human Services for England Bayer Schering Pharma AG Department for International Development The Olivia Hodson Cancer Fund The Barcapel Foundation The Dromintee Trust Human Early Learning Partnership Biotechnology and Biological Sciences Duchenne Parent Project Research Council Lord and Lady Dundas I Heather Beckwith The Dunhill Medical Trust ImmunoBiology Limited Beckwith family and friends The Houghton Dunn Charitable Trust Imperial College Healthcare Charity Behçet's Syndrome Society Dutch Kidney Foundation Ince & Co LLP The Bernard Lewis Family Charitable Trust Dystrophic Epidermolysis Bullosa Indian Council of Medical Research Bernard van Leer Foundation Research Association Inspiration Biopharmaceuticals Big Lottery Fund Ipsen Ltd Bill & Melinda Gates Foundation E J Biogen Idec Hemophilia Economic & Social Research Council Janssen Biotech, Inc. (formerly Centocor Ortho BioMarin Pharmaceutical EISAI Ltd Biotech Inc.) Bluebird Bio Inc Eli Lilly and Company Joint Information Services Committee Bo Hjelt Spina Bifida Foundation Elimination of Leukaemia Fund Sofia and Gennadiy Bogolyubov Emergency Nutrition Network K The Brain Tumour Charity Epilepsy Research UK Kidney Research UK Bristol-Myers Squibb Pharmaceuticals Ltd Engineering and Physical Sciences Kids Kidney Research British Academy Research Council British Heart Foundation European Commission L British Neuropathological Society European Group for Blood and Marrow Dorothy and Spiro Latsis Benevolent Trust British Skin Foundation Transplantation Leukaemia & Lymphoma Research British Society for Paediatric Endocrinology European Parliament Lily Foundation and Diabetes European Society for Immunodeficiencies Natalie and Ian Livingstone Mr Brian Bunce (ESID) London School of Hygiene and Bupa Cromwell Hospital European Society for Paediatric Endocrinology Tropical Medicine Bupa Foundation European Union Lullaby Trust Ltd Tiggy Butler

34 Research Review 2012/13 M Orphan Europe Sparks (Sport Aiding Medical Research Macmillian Cancer Support OSCAR Campign Board Fundraising for for Kids) The Mahboubian Family Trust immunology research St George's Hospital Medical School Marie Curie Cancer Care OSI Pharmaceuticals The Stanley Sanger Foundation Marks and Spencer plc Otsuka Pharmaceuticals Stanley Thomas Johnson Stiftung (Stanley Harvey and Allison McGrath Thomas Johnson Foundation) Mead Johnson Nutritionals P Stillbirth and Neonatal Death Society Scott and Suling Mead Paediatric Rheumatology Discretionary Fund Sweets for Life Ltd Medical Research Council Phil and Yvonne Parry Medicines for Children Research Network Paul Hamlyn Foundation T Meningitis Research Foundation PATH Vaccine Solutions Takeda Global Research & Development MEND Pathological Society of Great Britain Centre Ltd Merck & Co., Inc. and Ireland Technology Strategy Board Merck Sharp & Dohme (MSD) PerkinElmer Hettie Tigwell The Micro and Anophthalmic Pfizer Trophos Children's Society Promethera Biosciences Towergate Charitable Foundation The Laurence Misener Charitable Trust Protalix Moorfields Eye Hospital NHS PTC Therapeutics U Foundation Trust Public Health England UBS Morgan Stanley Public Health Research Consortium UK Children's Neurological Research J P Moulton Charitable Foundation Silas Pullen and friends Campaign Muscular Dystrophy Association UK National Screening Committee Muscular Dystrophy Campaign Q The Ulverscroft Foundation Myasthenia Gravis Association Queen Mary, University of London UNICEF Myositis Support Group Uniserve (Holdings) Ltd R University of Bristol N Alexandra Raphael and family University College London Nancie Finnie Charitable Trust Rijksinstituut voor Volksgezondheid en Milieu UCL – Institute of Child Health National Academy of Education (Dutch National Institute for Public Health University College London Hospital National Eye Research Centre and the Environment) NHS Foundation National Health and Medical Roche University of Iowa Research Council Rosetrees Trust University of London Central Research Fund The National Institute for Health Research The Royal Academy of Engineering The University of Manchester Biomedical Research Centre at Great Royal College of Paediatrics and Child Health University of Milan (Università degli Studi Ormond Street Hospital for Children The Royal College of Surgeons of England di Milano) NHS Foundation Trust and UCL Institute Royal National Institute of Blind People University of Newcastle of Child Health The Royal Society University of Oulu National Institute for Health Research University of Oxford National Institutes of Health S University of Tartu National Patient Safety Agency Samantha Dickson Brain Tumour Trust National Specialised Commissioning Team The Samuel Sebba Charitable Trust V National Society for the Prevention of Cruelty Sandoz The 3VB Charitable Trust to Children Sanofi Pasteur Vasculitis Foundation Pervaiz Naviede Family Trust Scleroderma Society Cristina Vigors Nederlandse Organisatie voor Shire Human Genetic Therapies Inc Vitaflo International Ltd Wetenschappelijk Onderzoek (Netherlands Shire Human Genetic Therapies UK Limited Organisation for Scientific Research) Shire-Movetis NV W Nelsons Shrewsbury House School Mr and Mrs John Walton Newlife Foundation for Disabled Children Siemens Healthcare (formerly known as Wayne State University The Neuroblastoma Society Siemens Medical Solutions) Wellbeing of Women North West London Hospital NHS Trust Siemens PLC WellChild Norton-Freeman Charitable Trust Silas Pullen and friends Wellcome Trust Novartis International AG Society for Applied Microbiology Richard Wright Novartis Pharmaceuticals UK Ltd Society for Endocrinology Novo Nordisk The SMA Trust (Spinal Muscular Atrophy) Z Dermot Smurfit Raffaele Zagari O Jefferson & Michael Smurfit Monegasque Octapharma AG Foundation The Georg und Emily von Opel Foundation The Sohn Foundation London Options JN and Dame Phyllis Somers

Research Review 2012/13 35 Senior academic staff – 1 April 2012 to 31 March 2013

Cancer theme Emeritus Professor of Genes, development and Theme Leader Paediatric Anaesthesia disease theme Professor Kathy Pritchard-Jones Professor David Hatch Theme Leader Reader in Clinical Paediatric Professor Peter Scambler Molecular Haematology and Neonatal Intensive Care and Cancer Biology Unit Dr Mark Peters Clinical and Molecular Genetics Unit Reader in Molecular Neurobiology Senior Lecturer Professor of Clinical and Molecular and Head of Unit Dr Eleanor Main Genetics and Head of Unit Dr Jonathan Ham Clinical Senior Lecturer Professor Gudrun Moore Hugh and Catherine Stevenson Dr Suellen Walker Professor of Paediatric Metabolic Disease Professor of Cancer Biology Senior Research Fellow and Hepatology Professor Kathy Pritchard-Jones Dr Sook-Yuen Lum Professor Peter Clayton Professor of Paediatric and Senior Research Associate Professor of Paediatric Endocrinology Developmental Pathology Dr Rachael Gregson Professor Mehul Dattani Professor Neil Sebire Professor of Clinical Chemistry Emeritus Professor of Haematology General and adolescent Professor Simon Heales and Oncology paediatrics theme Professor of Paediatric Endocrinology Professor Judith Chessells Theme Leader Professor Peter Hindmarsh Emeritus Professor of Paediatric Professor Terence Stephenson Great Ormond Street Hospital Children’s Haematology and Oncology Charity Professor of Clinical and Professor Ian Hann General and Adolescent Paediatrics Unit Molecular Genetics Reader in Paediatric Oncology Nuffield Professor of Child Health Professor Maria Bitner-Glindzicz Dr John Anderson and Head of Unit Emeritus Professor of Molecular Genetics Senior Lecturer Professor Terence Stephenson Professor Susan Malcolm Dr Mike Hubank Professor in Adolescent Health Emeritus Professor of Molecular Walport Lecturers Professor Russell Viner Embryology Dr Daniel Morgenstern Professor of Integrated Community Professor Marilyn Monk Dr Karin Straathof Child Health Emeritus Professor of Biochemistry Lecturer Professor Monica Lakhanpaul Professor David Muller Dr Owen Williams Emeritus Professor of Paediatrics Emeritus Professor of Paediatric Genetics Senior Research Fellow Professor Mark Gardiner Professor Marcus Pembrey Dr Martino Barenco Emeritus Professor of Paediatric Emeritus Professor of Child Health Senior Clinical Research Associate Gastroenterology and Growth Dr Jessica Bate Professor John Walker-Smith Professor Michael Preece Senior Research Associate Emeritus Professor of Neonatal Paediatrics Emeritus Professor of Biochemistry Dr David Michod Professor Edward Reynolds Professor Bryan Winchester Dr Mark Weeks Emeritus Professor of Community Reader in Paediatric Endocrinology Child Health and Wellcome Trust Senior Research Cardiorespiratory theme Professor Brent Taylor Fellow in Clinical Science Theme Leader Reader in General Paediatrics Dr John Achermann Professor Janet Stocks (until June 2012) Dr Alastair Sutcliffe Reader in Paediatric Endocrinology Professor Christopher O'Callaghan (from Dr Khalid Hussain June 2012) Clinical Senior Lecturer Dr Eddie Chung Great Ormond Street Hospital Children’s Charity Reader in Portex Unit of Paediatric Anaesthesia, Lecturer Paediatric Metabolic Medicine Pain Research, Critical Care, Respiratory Dr Sophie Khadr Dr Shamima Rahman Medicine, Physiology and Physiotherapy Professorial Research Associate Lecturers Head of Unit Professor Helen Roberts Dr Philippa Mills Professor Janet Stocks (until June 2012) Professor Linda Franck Professor Christopher O'Callaghan (from Dr Kevin Mills Senior Research Associate June 2012) Principal Clinical Research Associate Dr Beverley Botting Smiths Medical Professor of Dr Veronica Kinsler Anaesthesia and Critical Care Louis Dundas Centre for Children’s Senior Clinical Research Fellow Professor Michael (Monty) Mythen Palliative Care Dr Peter Adlard Professor of Respiratory Physiology True Colours Chair in Palliative Care Senior Research Associate Professor Janet Stocks for Children and Young People and Dr Sayeda Abu-Amero Professor of Respiratory Physiology Head of Unit Professorial Research Associate Professor Christopher O'Callaghan Professor Myra Bluebond-Langner Dr Paul Gissen

36 Research Review 2012/13 Medical Molecular Biology Unit BBSRC Senior Research Fellow Professor of Human Genetics and Dr Masahiro Ono Professor of Developmental Head of Unit Psychopathology Professor David Latchman Infectious Diseases and Microbiology Unit Professor Peter Hobson (until April 2013, becoming Emeritus from thereafter) Reader in Molecular and Cell Biology Professor of Infectious Disease and Dr Anastasis Stephanou Immunology and Head of Unit Senior Research Fellow Professor Nigel Klein Dr Jessica Hobson Lecturer Dr Vishwanie Budhram-Mahadeo Senior Lecturer Senior Clinical Research Fellow Dr Mona Bajaj-Elliott Dr Robert Senior Molecular Medicine Unit Clinical Reader in Vascultis National Institute of Health Research Professor of Molecular Medicine Dr Paul Brogan (jointly with Clinician Scientist and Head of Unit Rheumatology Unit) Dr Nadia Micali Professor Peter Scambler Walport Lecturer Molecular Immunology Unit Professor of Computational Biology Dr Justin Wakefield Professor Peter Hammond Professor of Molecular Immunology Senior Teaching Fellow and Head of Unit Professor of Medical and Molecular Dr Helen Bruce Professor Christine Kinnon Genetics and Wellcome Trust Senior Research Fellow Professor of Transplantation Immunology Developmental Biology Unit Professor Phil Beales Professor Persis Amrolia Reader in Developmental Neurobiology Senior Lecturer Professor of Paediatrics and Immunology and Head of Unit Dr Hannah Mitchison Professor Bobby Gaspar Dr Patrizia Ferretti Senior Research Associate Professor of Paediatric Immunology and Margaret H Nicholas Professor of Dr Chiara Bacchelli Wellcome Trust Senior Clinical Fellow Developmental Biology and Genetics Dr Sofia Christou-Savina Professor Adrian Thrasher Professor Jane Sowden Dr Hywel Williams Professor of Epidemiology and Senior Research Associate Dr Jochen Kammermeier Medical Statistics Dr Daniel Kelberman Professor Steve Hart Nephro-Urology Unit Reader in Molecular Biology Developmental Cognitive Reader in Nephrology and Head of Unit Dr Kenth Gustafsson Neuroscience Unit Dr Paul Winyard Reader In Cell and Gene Therapy Professor of Developmental Cognitive Emeritus Professors of Dr Waseem Qasim Neuroscience and Head of Unit Professor Faraneh Vargha-Khadem Paediatric Nephrology Senior Research Fellows Professor Martin Barratt Dr Dale Moulding Readers in Developmental Cognitive Professor Michael Dillon Dr Giorgia Santilli Neuroscience Reader in Paediatric Nephrology Dr Fang Zhang Dr Michelle de Haan Dr Detlef Bockenhauer Senior Research Associate Senior Lecturer Dr Lesley Rees Dr Steven Howe Dr Torsten Baldeweg Senior Research Associate Lecturer in Developmental Cognitive Dr David Long Rheumatology Unit Neuroscience Wellcome Trust Fellow Professor of Paediatric Rheumatology Dr Frédérique Liégeois Dr Eugenia Papakrivopoulou and Head of Unit Professor Lucy Wedderburn Dubowitz Neuromuscular Centre Infection and immunity theme Reader in Vasculitis Chair of Paediatric Neurology and Theme Leader Dr Paul Brogan (jointly with Infectious Head of Unit Professor Christine Kinnon Diseases and Microbiology Unit) Professor Francesco Muntoni Clinical Senior Lecturer Professor in Cell Biology Immunobiology Unit Dr Despina Eleftheriou Professor Jennifer Morgan Professor of Vaccinology and Immunology, Senior Research Associate Senior Clinical Research Associate Director of Clinical Research and Ebun Omoyinmi Dr Valerie Ricotti Development at Great Ormond Street Senior Research Associate Hospital and Head of Unit Neurosciences and mental Dr Haiyan Zhan Professor David Goldblatt health theme Dr Juliet Ellis Professor of Immunology Theme Leader Professor Robin Callard Professor Francesco Muntoni Imaging and Biophysics Unit Reader in Imaging and Biophysics Professor of Experimental Immunology Behavioural and Brain Sciences Unit and Head of Unit Professor Tessa Crompton Professor of Behavioural and Brain Dr Christopher Clark Lecturer Sciences and Head of Unit Rank Professor of Biophysics Dr Wei-Li Di Professor David Skuse Professor David Gadian

Research Review 2012/13 37 Senior academic staff continued

Honorary Professor of Medical Physics NUTRITIONAL AND SURGICAL Lecturers Professor Isky Gordon SCIENCES THEME Dr Julie Carter Lecturers in Neuroimaging and Biophysics Dr Zelee Hill Dr David Carmichael Nutrition Unit Dr Audrey Prost Dr Jonathan Clayden Great Ormond Street Hospital Children’s Dr Andrew Seal Dr Jolene Skordis-Worrall Lecturers Charity Professor of Paediatric Nutrition Senior Research Fellow Dr Martin King and Head of Unit Professor Atul Singhal Ms Janet Wickenden Neural Development Unit Medical Research Council Clinical Senior Teaching Fellow Research Professor of Paediatric Nutrition Mr Christopher Willott GlaxoWellcome Professor of Professor Alan Lucas Developmental Neurobiology and Professor of Anthropology and Paediatric Centre for Paediatric Epidemiology Head of Unit and Biostatistics Professor Andrew Copp Nutrition Professor Jonathan Wells Professor of Public Health and Reader in Developmental Neurobiology Epidemiology and Head of Unit Reader in Childhood Nutrition Dr Nick Greene Professor Catherine Law Dr Mary Fewtrell Reader in Neurobiology Professor of Paediatric Epidemiology Senior Research Fellow Dr Juan Pedro Martinez-Barbera Professor Carol Dezateux Mr Paul Sacher Great Ormond Street Hospital Children’s Professor of Medical Statistics Charity Reader in Craniofacial Surgery Unit Professor Tim Cole Developmental Biology and Genetics Nuffield Professor of Paediatric Surgery Professor of Clinical Epidemiology Dr Philip Stanier and Head of Unit Professor Ruth Gilbert Reader in Developmental Neurobiology Professor Agostino Pierro Professor of Paediatric Epidemiology Dr Andrew Stoker Emeritus Nuffield Chair of Professor Catherine Peckham Senior Lecturer Paediatric Surgery Professor of Epidemiology and Dr Alan Burns Professor Lewis Spitz Public Health HEFCE Clinical Senior Lecturer Clinical Senior Lecturer Professor Christine Power Dr Thomas Jacques Dr Paolo de Coppi Professor of Ophthalmic Epidemiology and Director of the Ulverscroft Visual Lecturer Senior Lecturer Research Group Dr Erwin Pauws Dr Simon Eaton Professor Jugnoo Rahi Clinician Scientist Emeritus Professor and Principal Dr Nikhil Thapar POPULATION HEALTH SCIENCES THEME Research Fellow Theme Leader Senior Research Fellow Professor Harvey Goldstein Professor Catherine Law Dr Dianne Gerrelli Emeritus Professor of Paediatric Metabolic Professor James Leonard Neurosciences Unit Centre for International Child Health (became UCL Institute for Global Health Reader in Epidemiology and Public Health The Prince of Wales’s Chair in Childhood on 1 September 2012) Dr Elina Hypponen Epilepsy and Head of Unit Senior Lecturers Professor Helen Cross Professor of International Child Health and Head of Unit Dr Helen Bedford Professor of Paediatric Neurology Professor Anthony Costello Dr Mario Cortina Borja Professor Fenella Kirkham Dr Xiayi Ke Professor of Global Health Dr Leah Li Professor in Paediatric Neurosciences Dr Therese Hesketh Professor Rod Scott Dr Patricia Tookey Emeritus Professors of International Dr Angela Wade Emeritus Professor of Childhood Epilepsy Child Health Lecturer Professor Brian Neville Professor Andrew Tomkins Dr Marco Geraci Clinical Senior Lecturer Reader in Global Health Dr Claire Thorne Dr Vijeya Ganesan Dr Sarah Hawkes Senior Research Fellows Clinician Scientist Reader in International Child Health Ms Phillippa Cumberland Dr Manju Kurian and Wellcome Trust Senior Research Dr Lucy Griffiths Principal Clinical Research Associate Fellow in Clinical Science Ms Juliet Oerton Dr Ronit Pressler Dr David Osrin Mrs Deborah Ridout Walport Lecturer Principal Clinical Research Associate Dr Michelle Heys Dr Suzanne Walton

38 Research Review 2012/13 Honorary staff

Dr Nargis Ahmad Dr Mamoun Elawad Dr Gayatri Kembhavi Professor Paul Riley Dr Lucy Alderson Dr Haitham Elbashir Dr Benjamin Killingley Dr Stephanie Robb Dr Rakesh Amin Professor Martin Elliott Dr Richard Knight Dr James Roberts Professor Jane Anderson Dr Christin Eltze Dr Jutta Koglmeier Dr Andreas Roposch Dr Kristian Aquilina Dr Philippa Evans Professor Martin Kostolny Dr Maria Ruegger Dr David Atkinson Dr Robert Evans Dr Melissa Lees Miss Isabelle Russell Eggitt Dr Paul Aurora Dr Elspeth Facer Dr Nicholas Lench Dr Alison Salt Dr Sarah Aylett Dr Elena Fernandez Dr Charles Li Dr Dawn Saunders Dr Luc Berthouze Dr Caroline Fertleman Dr Alki Liasis Dr Richard Scott Dr Sanjay Bhate Dr Marina George Dr Keith Lindley Dr Rebecca Sear Dr Lorenzo Biassoni Professor Faith Gibson Dr Christina Liossi Dr Debbie Sell Mr Robert Bingham Dr Hilary Glaisyer Dr Paula Lister Professor Caroline Sewry Dr Ann Black Dr Jonathan Goldin Dr Timothy Liversedge Dr Neil Shah Dr Dominique Bonnet Professor Isky Gordon Dr Adrian Lloyd-Thomas Dr Ananth Shankar Dr Osvaldo Borrelli Professor Philip Graham Dr Andrew Long Professor Andre Shaw Dr Beverly Botting Professor Mike Grocott Dr Angela Mackersie Dr Delane Shingadia Dr Richard Bowman Dr Leonardo Guasti Dr Alison Male Dr Rukshana Shroff Dr Stewart Boyd Professor Neal Halfon Dr Kshitij Mankad Mr Branavan Sivakumar Dr Caroline Brain Dr Susan Hall Dr Adnan Manzur Dr Jonathan Smith Dr Penelope Brock Dr Louise Harding Dr Jan Marek Dr Virpi Smith Dr Susan Brown Dr Darren Hargrave Dr Stephen Marks Mr Brian Sommerlad Dr Helen Bruce Dr William Harkness Dr Michael Mars Dr Patricia Sonksen Dr Michael Burch Professor John Harper Dr Frederick Martineau Dr Helen Spoudeas Professor Gary Butler Dr Kathryn Harris Dr Renee McCulloch Dr Richard Stanhope Dr Catherine Cale Dr John Hartley Dr Angus McEwan Professor Stephan Strobel Professor Simon Capewell Professor David Hatch Dr Kieran McHugh Dr Grant Stuart Mr Aabir Chakraborty Mr Richard Hayward Dr Antony Michalski Dr Sam Stuart Mr Abraham Cherian Dr Jane Herod Dr Mortimer Mishkin Dr Michael Sury Professor Lyn Chitty Professor Clyde Hertzman Dr Quen Quen Mok Dr Mark Thomas Dr Wui Khean Chong Dr Isobel Heyman Dr Berit Muller Pebody Dr Dominic Thompson Dr Tanzina Chowdhury Dr Polly Hirons Mr Imran Mushtaq Dr Dorothy Thompson Dr Deborah Christie Dr Deborah Hodes Dr Reema Nandi Dr Penny Titman Dr Tiziana Coliva Professor Robert Hofstra Dr William Newsholme Dr Kjell Tullus Mr Peter Cuckow Dr Alexandra Hogan Professor Charles Newton Dr Jane Valente Dr Philip Cunington Dr Daljit Hothi Dr Valerio Novelli Dr William Van't Hoff Miss Francina Cunnington Dr Richard Howard Dr Oystein Olsen Dr Sophia Varadkar Dr Naomi Dale Dr Marina Hughes Dr Kar-Binh Ong Dr Paul Veys Dr Krishna Das Dr Helen Hume-Smith Dr Andranick Joseph Petros Dr Eileen Vizard Dr Zaib Un Nisa Sadiqah Davids Dr Paul Humphries Dr Sharon Pettle Dr Isabeau Walker Dr Edward Graham Davies Dr Jane Alison Hurst Professor Alan Phillips Dr Colin Wallis Dr David De Beer Professor Richard Isles Dr Christine Pierce Dr Hugo Wellesley Professor Marc De Leval Dr Elizabeth Jackson Dr Clarissa Pilkington Dr David Williams Dr Carlos De Sousa Dr Ian James Dr Matthew Carey Pitt Dr Glyn Williams Dr Margaret Dejong Dr Katharine Jamieson Dr Ponnudas Prabhakar Dr Sally Wilmshurst Mr Divyesh Desai Dr Owase Jeelani Dr Jeremy Pryce Professor Adrian Spencer Woolf Dr Robert Dinwiddie Dr Alison Jones Dr Dilini Rajapakse Dr Austen Worth Dr Garth Dixon Dr Peter Jones Dr Padmanabhan Ramnarayan Mrs Michelle Wyatt Dr Linda Dowdney Dr Natasha Kapur Dr Ellen Rawlinson Mr David Drake Dr Juan Pablo Kaski Ms Clare Rees

Research Review 2012/13 39 Administration

The Planning and Executive Committee Head of Portex Unit Non-Executive Directors of the UCL Institute of Child Health Professor Janet Stocks Ms Yvonne Brown Director (until September 2012) Professor Andrew Copp Professor Andrew Copp (until October 2012) Professor Christopher O’Callaghan (until December 2012) Professor Rosalind Smyth (from September 2012) Professor Rosalind Smyth (from October 2012) Chief Executive of Great Ormond Street (from January 2013) Hospital for Children NHS Foundation Trust Mr David Lomas Deputy Director of Research (until Ms Mary MacLeod December 2012), and Theme Leader Dr Jane Collins (until August 2012) Mr Jan Filochowski (from November 2012) Mr John Ripley of Genes, Development and Disease Mr Charles Tilley Professor Pete Scambler Institute Manager Deputy Director of Research Ms Justine Abbott (until September 2012) Special Trustees for Great Ormond Street Ms Catrin Ball (from September 2012) (from January 2013) Hospital Children’s Charity Professor Gudrun Moore The Board of Great Ormond Street Chairman of Special Trustees Deputy Director of Education, and Theme Hospital for Children NHS Foundation Trust Mr Alan Hodson Leader of Infection and Immunity Chairman Trustees Professor Christine Kinnon Baroness Tessa Blackstone Ms Gabrielle Abbott Director of Clinical Research Ms Susan Burns Executive Directors and Development Dr Diana Dunston OBE Professor David Goldblatt Chief Executive Mr Hugo Llewelyn Dr Jane Collins (until August 2012) Sir Mark Potter Clinical Research Adoptions Committee Mr Jan Filochowski (from November 2012) Mr Chris Spratling and Deputy Director of Clinical Research and Development Chief Operating Officer Associate Trustees Professor Bobby Gaspar Ms Fiona Dalton (until March 2013) Mr David Elms (until November 2012) Mr Simon Brewer Theme Leader of Population Chief Finance Officer Mrs Claire Newton Mr Simon Stormer Health Sciences Mr Michael Weston Professor Catherine Law Co-Medical Directors Dr Edward Wozniak (from August 2012) Theme Leader of Neurosciences Dr Barbara Buckley and Mental Health Professor Martin Elliott Trustees of the Child Health Research Professor Francesco Muntoni Chief Nurse and Director of Education Appeal Trust Theme Leader of Cancer Mrs Elizabeth Morgan Chairman Professor Kathy Pritchard-Jones Director of HR and Organisational Mr Andrew Fane Theme Leader of General and Development Trustees Adolescent Paediatrics Mr Ali Mohammed (from January 2013) Mr Tim Clarke Professor Terence Stephenson Director of Clinical Research and Professor Andrew Copp Theme Leader of Development Dr Jane Collins (until September 2012) Professor David Goldblatt Cardiorespiratory Sciences Mr Jan Filochowski (from November 2012) Professor Janet Stocks Director of Redevelopment Professor David Goldblatt (until September 2012) Mr William McGill (until July 2012) Professor Graham Hart Professor Christopher O’Callaghan Mr Matthew Tulley (from December 2012) Mr Andrew Ross Professor Rosalind Smyth (from September 2012) Director of Information Technology (from October 2012) Mr Mark Large Head of Centre for International Child Professor Sheila Wirz Health, and Director of the UCL Institute Director of International and Private for Global Health Patients Professor Anthony Costello Mr Trevor Clarke Head of Surgery Unit Director of Planning and Information Professor Agostino Pierro Mr Robert Burns (from November 2012)

Right: one-year-old Hollie on Dinosaur Ward. 40 Research Review 2012/13

e child rst and always and child rst e Research 2012/13 Review

UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust Research Review 2012/13

[email protected] Design ManagerDesign Hospital Street Ormond Great Fourth floor Street 40 Bernard 1LE London WC1N E

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