The child first andalways child first The Research Research 2009 Review

UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust Research Review 2009

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Please visit www.ucl.ac.uk/ich/ research-ich/research-and-development an online version for or www.gosh.nhs.uk of this review. UCL Institute of Child HealthUCL Institute and production. its during helped who Thank you to everyone who was was who everyone to you Thank for permission gave or for, interviewed 50:50 silk. be used in thistheir to review, picture the of members many the as well as Hospital Ormond Street staffGreat Printed by Bishops Printers, utilising utilising Printers, Bishops by Printed Revive on inks vegetable-based Adam Laycock and Alex Jordan. and Alex Laycock Adam Designed and produced by Great by Designed and produced Hospital Ormond Street Marketing Photography by Richard Learoyd, Learoyd, Richard by Photography and Communications.

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Contents

Overview 05 Director’s report 09 Chief Executive’s report 11 Research and Development report

Research 14 Gaining insights from the complexity of immunity Professor Tessa Crompton 17 Combating cancer with catechins Dr Arturo Sala 18 How rare disorders can unlock the pathway to precise diagnoses Dr Detlef Böckenhauer 21 Tracing the living pathways of the brain Dr Chris Clark 23 Finding the triggers to mend a broken heart Professor Paul Riley 24 Linking up the metabolic chain Professor Simon Heales 27 Long-term health through life-long research Professor Carol Dezateux CBE 29 Winding back the biological clock on damaged muscles Dr Jennifer Morgan 31 Malfunctioning stem cells seeding cancer and epilepsy Dr Thomas Jacques 33 Dietary supplements to prevent neural tube defects Dr Nick Greene

People 36 Awards, honours and prizes 2009 40 Grants and donations 2009 44 Senior academic staff 2009 51 Administration 2009

Cover: Five-year-old Katie and Snowball, her teddy, are staying on Parrot Ward for a few days while doctors check if Katie has a blocked stent. They have been keeping busy by making plaster- cast animals, which are now dry enough for them to paint.

Left: Rosie, who is nearly three, is just finishing her strawberry jelly before going to her outpatient appointment on Safari Ward. Research Review 2009 01 Careful, methodical and ethically-conducted clinical research asks “what can we do to help?” – the foundation Using laser light to create visual slices through living tissue, our confocal microscope facility allows researchers to examine biological samples at the limits for global improvements of optical resolution, revealing how nature works at the smallest possible scale. in medicine. Director’s report During 2009, the UCL Institute of Child Health (ICH) increasingly looked outwards, developing new relationships and working to increase its contribution to paediatric research throughout the UK and beyond.

In 2009, we were delighted to become We welcomed Terence Stephenson part of UCL Partners, a new Academic as Nuffield Professor of Paediatrics in Health Sciences Centre, in which UCL is succession to Professor Sir Al Aynsley- joined by its four closest, research-active Green. Terence was formerly Dean of NHS trusts: Great Ormond Street Hospital the Medical School at the University of for Children NHS Trust (GOSH), University Nottingham and is President of the Royal College London Hospitals, Moorfields Eye College of Paediatrics and Child Health. Hospital NHS Trust and the Royal Free He takes on the task of developing general Hampstead NHS Trust. Child Health was and adolescent paediatrics as an academic one of the first areas of excellence to be strength of the Institute, encompassing adopted by UCL Partners. Led from the community-based and secondary-level Institute by Professor David Goldblatt, the paediatrics. Dr Simon Heales also joined theme will have an early focus on obesity the Institute as our first Professor of and diabetes, with intensive work planned Clinical Chemistry, the result of a joint in order to reach out more effectively into initiative with GOSH. The aim is to provide the community to improve the health of academic leadership and innovative all children. research in clinical biochemistry, a vital area underpinning much of GOSH’s Several projects of national importance work in identifying and treating inborn received significant grant awards. The errors of metabolism and related Baby Biobank was launched in March, childhood disease. with funding from Wellbeing of Women (£1.6 million). Professor Gudrun Moore Institute staff who received honours and and Professor Lesley Regan (Imperial awards included Professor Carol Dezateux, College London) lead the Baby Biobank, who became a CBE for services to science. which will collect and provide to the Carol’s research is concerned with early scientific community, samples from life influences on child health, and the pregnancies to advance understanding effectiveness of screening and other of disorders such as fetal growth clinical and public health strategies to restriction. The Institute hosts the Human improve the health of children. Professor Developmental Biology Resource (HDBR), Mehul Dattani became Chair of the British which received five-year renewal funding Society for Paediatric Endocrinology and (£2.1 million) from the Medical Research Diabetes, and Dr Richard Chin, one of Council and Wellcome Trust. The HDBR, ICH’s academic clinical lecturers, was led by Professor Susan Lindsay (Newcastle awarded the SPARKS (Sport Aiding University) and I, is the UK’s only fetal Medical Research for Kids) prize 2009 tissue bank, enabling studies of gene for research into population aspects expression in relation to genetic disease of childhood epilepsy. SPARKS also and birth defects. The UK Collaborative honoured Dr Maria Bitner-Glindzicz and Study of Newborn Screening for Medium Dr Shamima Rahman for excellence in Chain Acyl Dehydrogenane Deficiency medical research in relation to their work (MCADD) was launched during the year, on preventable deafness, and Professor led by Professor Carol Dezateux and Janet Stocks and Dr Rachael Gregson funded by the Department of Health and for their studies of chest physiotherapy National Screening Committee. Every in ventilated children. newborn baby in England will now be offered a screening test for MCADD, Marilena is a long way from home. She and her family are a serious inborn error of metabolism. here from Cyprus and are staying on Butterfly Ward. Director’s report Research Review 2009 05 Director’s report continued

A number of Institute members gained Andrew Taylor became Professor of academic promotion at UCL. Dr Lyn Cardiovascular Imaging for research Chitty became Professor of Genetics into examination of children’s hearts and Fetal Medicine for research into fetal using magnetic resonance imaging ultrasound and the diagnosis of birth (MRI). Andrew was recently made defects. Lyn recently obtained one of the Senior Research Fellow of the NIHR first programme grants from the National in recognition of his achievements. Institute for Health Research (NIHR) to develop non-invasive prenatal diagnosis. Staff promoted to Reader were Dr Nick Greene for research into the development Therese Hesketh became Professor of and prevention of spina bifida, Dr Juan Global Health for research into health Pedro Martinez-Barbera for developmental and population issues in China. Therese biology studies of the forebrain and pituitary recently gained £3.3 million from the gland, and Dr Paul Winyard for research Department for International Development into disorders of the kidney, as well as to improve access to care in rural and leadership of educational programmes urban China. at the ICH.

Paul Riley became Professor of Molecular Cardiology for ground-breaking advances in identifying a new source of stem cells in the heart, and pin-pointing the molecules that activate these stem cells. His research Andrew Copp offers hope of improved therapies for Director disease in children’s and adult hearts. UCL Institute of Child Health

Neil Sebire became Professor of Paediatric and Developmental Pathology for research into the pathology of the placenta, and a recent influential paper inThe Lancet demonstrating a role for bacterial infection in unexplained infant deaths.

Sophie loves the playroom on Lion Ward and today she is making a card for her mum. She is being treated for a type of cancer called neuroblastoma. She has been in and out of hospital for a long while, but is full of beans and can often be found on one of her “little walks” around the ward. Director’s report Research Review 2009 07 Chief Executive’s report At Great Ormond Street Hospital for Children NHS Trust (GOSH), our role is to provide the very best care and treatment for our patients and to give them the best possible chance of living long and healthy lives. To achieve this, we have always been and will always continue to be dedicated to finding better ways to treat, and hopefully cure, childhood illnesses.

Some of the very best research work This year, GOSH and the UCL is carried out in collaboration with other Institute of Child Health developed partners, nationally and internationally. bone marrow transplants that use In a world first in children, British and virtually no chemotherapy. For the first Italian doctors recently worked together time, researchers used antibodies that to transplant a new trachea into a child, recognise the bone marrow to prevent and used the child’s own stem cells to rejection and create space for the donor rebuild it. The application of this technology stem cells. This antibody treatment avoids should greatly reduce the risk of rejection some of the most devastating short and of the new trachea, as the child’s stem cells long-term side effects caused by standard will not generate any immune response. This chemotherapy, such as hair loss, sickness, technique is also considerably simpler and organ damage and infertility. The research potentially applicable to many centres was led by Dr Persis Amrolia, a consultant around the world, including those in in bone marrow transplants at the hospital. poorer countries. These are just two examples of what This revolutionary procedure involved a can be achieved by dedicated and Europe-wide team of laboratory scientists motivated academics and clinicians and hospital-based clinicians working working together to find better ways together to deliver this extraordinary to help children with life-threatening and treatment. At GOSH, the surgery was life-limiting illnesses. There are currently led by Professor Martin Elliott, who more than 700 research projects ongoing developed Europe’s first specialist across the joint organisation – and many tracheal surgery service for children. more examples of the pioneering work our researchers are carrying out are Over the past 10 years, the Bone Marrow shown here. Transplant Unit at the hospital, led by Dr Paul Veys, has pioneered the use of Research and development will continue gentler chemotherapy drugs to enable to be central to what we do, and with donor bone marrow grafts in children with Child Health as one of the initial themes primary immunodeficiencies, a condition of the UCL Partners Academic Health which prevents them from fighting Science Partnership, we look forward to infections. This approach has significantly collaborating even more widely in our work improved the outcome for such patients, and finding even more ways to help the and has now become standard care in children who need us. many European and US centres. However, certain subgroups of patients, such as babies under one year old, still have a high risk of mortality from transplant, even with gentler chemotherapy. Jane Collins Chief Executive Great Ormond Street Hospital for Children NHS Trust

Philippos loves being the centre of attention on Elephant Ward, where he is being treated for leukaemia. He always has a big grin on his face, especially at mealtimes. Chief Executive’s report Research Review 2009 09 Research and Development report Consolidating our programme of research for patient benefit.

During 2009, one important area of child health-focused scientists and clinical activity for research at Great Ormond academics, and we therefore decided Street Hospital for Children NHS Trust to award, in open competition, several (GOSH) and the UCL Institute of Child training fellowships to support scientists Health (ICH) was the consolidation of at the pre- and post-doctoral phases of research for patient benefit. The referral their career, as well as clinician scientists. pattern of patients to GOSH results in One of the prerequisites for obtaining relatively large numbers of complex these awards has been the focus of the and rare disorders gathering under the projects on linking laboratory-based care of a hospital team. Such experience scientists with those in the clinic. UCL with rare conditions not only provides has a superb scientific environment and the opportunity to optimise care, but it is the responsibility of closely-linked also enables pioneering research to be NHS and university units to translate undertaken. Increasingly, research that some of that science into patient benefit. will lead to patient benefit has been highlighted as a critical focus for the GOSH and the ICH have enthusiastically research carried out in the NHS, and embraced the first year of the UCL GOSH and the ICH have responded. Academic Health Science Partnership, UCL Partners (UCLP). Child Health was The purpose-built Somers Clinical Research adopted as one of the initial themes of Facility (CRF), designed to provide both the partnership and I was appointed as bespoke accommodation for ambulatory its lead. In September 2009, we held the patients participating in research and a inaugural symposium of the UCLP Child focus for research expertise for the joint Health theme. This showcased some of organisation, celebrated its first birthday the fine research being pursued across the in December 2009. The facility has seen wider north London child health community. increasing numbers of patients pass Presentations focused on eye disease, through its doors – CRF staff have helped obesity, epilepsy, stroke and service to establish 40 clinical studies, and more improvements, with a focus on respiratory than 90 patients visit the facility each disease, and several of these are being month for research studies. A wide range taken forward as UCLP initiatives. We hope, of studies is being undertaken, ranging through these workstreams, to encourage from first-in-man new treatments for children research at the population level, ultimately with life-threatening neuromuscular and bringing health gains and benefits to a much metabolic diseases, early and late phase wider population than that represented on studies in rheumatological and renal the wards in our hospital. disorders, through to cohort and long-term observational studies in meningitis, autism and dermatology. This illustrates the breadth and range of the type of research performed in the environment of a tertiary care hospital Professor David Goldblatt with patient benefit as its focus. Director of Clinical Research and Development GOSH and the ICH host the only National Institute for Health Research Specialist It’s pretty hard to take a photograph Biomedical Research Centre focused of 22-month-old Mohammed, as he is solely on children. We are very aware the fastest patient on Butterfly Ward. He spends most of his time zooming of our responsibility to contribute to Ms Jo Southern around, pushing his police-car walker the training of the next generation of Head of Research and Development Office in front of him. Research and Development report Research Review 2009 11 Patients’ needs lie at the heart of everything we do. Through a commitment to A few days ago, Jessica had a brain tumour removed – not that you would know it from the way she plays dominoes. It’s a fairly long walk for her to the playroom research, we strive to treat a few doors along the ward, but the journey back was a lot easier – a piggyback from dad. the untreatable. Gaining insights from the complexity of immunity Professor Tessa Crompton has dedicated her research to arguably one of the human body’s most complex biological processes. Her ambition is to understand the way in which we produce the millions of subtly and uniquely different immune cells that recognise and protect us from disease.

Professor Tessa Crompton T-cells are the body’s primary defence seems to be one factor that determines James’ story “Twenty years ago, I chose to against infection. Their correct growth the fate of the developing cell, telling it to by his parents, Mandy and Tim investigate T-cell development and development is crucial to forming continue to mature and divide, or to die. “The day after James was born, our lives “From that point on, we have lived in because I thought it would be the full complement of circulating white So the structure of the thymus itself, and were shattered when we were told he had a a bubble. No one can hold James other straightforward: thymocytes blood cells that recognises and destroys the position of the developing cell within loud heart murmur. Taking him home from than us and his grandparents, he has never were easy to separate and disease-causing pathogens. Conversely, that structure, would appear to be crucial hospital felt like he was on loan: we knew played with other children, and we stay characterise, and I naively incorrect T-cell development leaves to the signalling processes which fine-tune we would be back – not the feeling we had away from public places. believed that the experiments the body unprotected against infection, T-cell function.” expected. He was diagnosed a week later would be quick to do. I was and can lead to malignant diseases, with the heart defect Tetralogy of Fallot, “In March 2009, at six months old, James wrong. My long-term research such as leukaemia, and a variety of Professor Crompton is collaborating with and we were told he would need surgery had his heart surgery, and we saw his lips goal – to work out how autoimmune disorders. Dr Graham Davies to see if their knowledge in his first year. and toes turn from blue to pink! He then environmental cues from the of the thymus can translate into improving had his thymus transplant in May. Luckily, thymus stroma regulate T-cell Professor Crompton’s research has focused the outcomes of patients with DiGeorge “Things went from scary to completely we had been able to keep him infection- development – has proved elusive, on the thymus, the organ responsible for syndrome. This genetic condition affects surreal a few weeks later when we free up to that point. It was an agonising our understanding of how cells producing and fine-tuning T-cells prior to one in 4,000 newborns. Symptoms vary discovered that he had DiGeorge wait for a suitable thymus, and for it to be mature seems superficial, and their release around the body. Her group between individuals, but can, in severe syndrome and a zero T-cell count. cultured successfully. It has taken enormous experiments are difficult to aims to understand how environmental cases, include an underdeveloped patience and positive thinking while we do. This unpredictability, and cues from the thymus regulate the growth or absent thymus, which means that “Children with DiGeorge syndrome have waited for the first T-cells to appear, the complexity of biological of different kinds of T-cells, and how children are unable to produce the can have many problems, including with complications along the way. But, systems, is why I love research. developing T-cells called thymocytes T-cells needed to fight disease. cardiac defects, an inability to metabolise finally, it feels like our little boy has interpret and integrate such signals. calcium, immunodeficiency, feeding been born, as it looks as if the transplant “In 2007, my lab moved to the “Understanding the molecular regulation Last year, thanks to research funded by problems, poor muscle tone, developmental is working and James’ T-cell numbers UCL Institute of Child Health, of T-cell development is important if we are Great Ormond Street Hospital Children’s delay and poor hearing. When James was a are increasing week by week. where our research has already to understand how the body fights disease,” Charity, Dr Davies carried out the UK’s tiny baby, we were so scared for his future. benefited from support from Professor Crompton says. “We were the first thymus transplants in children with We just wanted his life to be worth living. “Hopefully it won’t be long before life the Immunobiology Unit first team to show that a biological signalling DiGeorge syndrome, as a way of replacing can return to normal. We look forward and stimulus from new molecule called Hedgehog had a role in their missing T-cells. Such transplants have “Our local hospital immediately put us to trips to the zoo, swimming lessons, collaborators. We now look T-cell growth and development in the been a relative success, despite there in touch with Dr Graham Davies, and holidays, toddler clubs and playtime with forward to working with thymus, a result which no one expected and being no opportunity to tissue-match we met with him at Great Ormond cousins, none of which would ever have Mike Hubank to investigate which has kept us hard at work ever since.” the thymus transplant. Street Hospital for Children NHS been possible for James if it wasn’t for the genetic changes in thymocytes Trust [GOSH] and learnt about remarkable research work that GOSH as they mature, and with Hedgehog signalling would appear to act “These transplants are saving patients’ his groundbreaking thymus carries out. Graham Davies to refine on T-cell development in the thymus in a lives, even though they are not matched transplant research. It was thymus transplantation. somewhat counterintuitive way, stimulating to tissue type,” Professor Crompton adds. daunting to think that “James is a bright, strong and affectionate T-cell growth at some stages and inhibiting “We now need to try to improve recovery this was so new and had little boy, full of fun and loved by many.” “Our research attempts it at others. Professor Crompton is keen to of the immune system in these patients, never been performed to address basic scientific find the biological mechanisms that enable so that they are in a better position to in Europe before, questions, but I hope that the same signal to act in opposite ways make the full repertoire of T-cells to fight but also amazing knowledge of the molecular within the same organ. off infectious disease. I think that, as we to think that if it regulation of T-cell learn more about T-cell development and worked, James would development will improve “The way the thymus controls T-cell the structure of the thymus, we will be develop a normal treatments for many development is by selectively weeding able to improve the technology for thymus immune system. childhood diseases.” out those developing T-cells which would transplantation, and we’ll see better attack the body’s own cells,” she says. “An outcomes in patients like those in need interesting line of our work has shown that, of a transplant with DiGeorge syndrome. as these developing T-cells migrate through To improve treatment for patients, we different regions of the thymus, they receive must gain a deeper understanding of different doses of Hedgehog signal. The the biological processes that control strength of Hedgehog signal they receive growth and development.”

Gaining insights from the complexity of immunity Research Review 2009 15 Combating cancer with catechins Dr Arturo Sala is making use of a group of compounds called catechins, commonly found in green tea, to treat one of the most deadly forms of childhood cancer. The application is new, but the use of green tea as a remedy is thousands of years old.

Dr Arturo Sala Despite having been known to medicine “There are any number of stories of green “My fascination with science for more than 100 years, neuroblastoma – tea being good for you,” Dr Sala says. “But started early, and as a kid I was a type of cancer affecting nerve cells – we have observed a significant reduction in intrigued by the natural world remains lethal in a majority of cases. In tumour growth in mice with neuroblastoma and the oceans. So, when it was its severest and, tragically, most common when we provided them with drinking water time to go to university, I chose form, even intensive treatment is successful containing catechins. In addition, we are biological sciences with the less than 50 per cent of the time. Due to gathering evidence to demonstrate how intention of becoming a marine the aggressive nature of the chemotherapy this common extract of green tea could biologist. However, in the first required, surviving children may face have such a remarkable effect.” year I changed my mind and problems with cognition and impaired became more interested in development, and, therefore, are at risk Early indications are that catechins how cells become transformed, of social disadvantage as they grow might act to stop the neuroblastoma leading to cancer. These were into adulthood. producing a type of cell, known as very exciting times: the first myeloid derived suppressor cells, which ‘oncogenes’, or genes causing “Clearly we are missing something,” says prevents the immune system from attacking cancer, were being discovered, Dr Sala, whose work at the UCL Institute tumours. Should initial experiments prove paving the way for the new of Child Health focuses on investigating successful, Dr Sala hopes his efforts will emerging field of molecular new therapies for neuroblastoma. “We have unlocked new non-toxic methods to oncology. Since then, I have need to understand the molecular basis boost the body’s innate defences against worked in oncology and of how this cancer is so resistant to neuroblastoma. have focused my studies on existing treatments, as well as ways neuroblastoma, an enigmatic to combat it without recourse to toxic By partnering with clinicians at the hospital, form of childhood cancer. chemotherapy drugs that carry such Dr Sala aims to apply any new treatments devastating side effects.” initially to children who relapse. There is “There is still no definite cure for an urgent need to find strategies to help metastatic neuroblastoma, and As part of a number of ongoing studies prevent neuroblastoma recurring fatally in at the UCL Institute of Child to find medicines that re-activate the children who have already undergone an Health, we are well placed in the body’s natural immune defences against initial round of intensive chemotherapy, often race to find a treatment for this cancer, Dr Sala has begun to investigate several years earlier. Novel uses of ancient devastating tumour. In the past the effectiveness of catechins. These therapies such as green tea could provide few years, we have been able to are part of a family of chemicals called new hope in the treatment of a disease, elucidate some important polyphenols and are derived from which has arguably evaded modern molecular pathways deregulated an extract of green tea. medicine for far too long. in neuroblastoma, and we hope to see a day in which no more children will die of this disease.”

Green tea contains molecules known as polyphenols, which are characterised by their many phenol rings. One member of this molecular family, catechins, forms the basis of Dr Sala’s research into new treatments for neuroblastoma. Combating cancer with catechins Research Review 2009 17

(–)–Epicatechin (EC) (–)–Epigallocatechin (EGC)

(–)–Epicatechin-3-gallate (ECG) (–)–Epigallocatechin-3-gallate (EGCG) How rare disorders can unlock the pathway to precise diagnoses Finding new cures for disease is not the only significant step in helping children at Great Ormond Street Hospital for Children NHS Trust (GOSH). Dr Detlef Böckenhauer’s work in the Renal Unit demonstrates that it is often crucial for us to understand disease on a molecular level if we are to diagnose and treat patients according to their unique medical needs.

Dr Detlef Böckenhauer Dr Böckenhauer is clear on his mission specific salts, and in addition were Ben’s story “As a clinician-scientist, I am in as a researcher. “My ambition is to find suffering from epilepsy, ataxia [an by his parents, Pat and Tony the privileged position of being and define the precise molecular pathways inability to co-ordinate muscle “We adopted our son Ben when he was “In 2009, when Ben was 20 years old able to combine a challenging which are broken in children with kidney movements] and deafness.” 15 months old, knowing that he was having and we had given up hope of a diagnosis, and rewarding clinical practice disease,” he says. “So often we try to nocturnal seizures, and he was diagnosed GOSH contacted us again. They had with my research interest of alleviate the symptoms of a disease without Working with Professor Robert Kleta with epilepsy at 18 months old. Ben went discovered a new syndrome and wanted understanding the basis of my really understanding its cause. In too many at UCL and colleagues in Leeds and on to fail some of his milestones, and at to test Ben’s DNA to see if he had the patients’ diseases. cases, the treatment we offer can have Germany, Dr Böckenhauer used linkage two years of age, was diagnosed as having defective gene. We went to GOSH again, wildly different effects, despite children analysis, in which the DNA of affected severe hearing loss which was delaying and Ben had lots of tests and was finally “I became interested in paediatric presenting with similar symptoms.” family members is compared with that of his speech, and severe ataxia which was diagnosed with EAST syndrome. There nephrology early on in medical healthy individuals, to identify the inherited delaying his gross motor functions. is no cure yet, but with continuing research, school, as I was fascinated by Where the root cause of kidney disease genetic fault. If successful, this approach better treatment may be found to cut down the fact that simple biochemical is unknown, exposure to these treatments can pinpoint the region of DNA that “Ben was later found to have a renal on all the medication Ben has to take. analysis of blood and urine is not a trivial matter. Knowing whether or harbours the faulty gene. They found a tubular defect, after he became ill with can enable a very detailed not a certain medical approach will work candidate gene active in kidney, brain vomiting and dehydration every six “We are very grateful to the doctors understanding of the exact from the outset can spare children from and inner ear cells which, when it was weeks or so. He underwent many tests at GOSH for not giving up on Ben. nature of a patient’s problem. having to undergo biopsies, or prevent them mutated in animal models, mimicked the at our local hospital and other specialist It amazed us that after so many years Yet kidney disease at its worst from having to take immunosuppressant symptoms of the children with salt-handling hospitals, but a diagnosis could not be they remembered he had the symptoms is kidney failure, which has a drugs that compromise their ability to fight deficiencies seen in the clinic. The team established, although the specialist of this rare syndrome.” devastating impact on quality disease. More importantly, however, finding named the resultant condition EAST agreed that all of Ben’s symptoms were of life, not only for the patient the biological cause of a disease can be syndrome (epilepsy, ataxia, sensorineural connected. Ben was eventually referred but for the entire family. Unlike a major step in obtaining information to deafness and tubulopathy). to Great Ormond Street Hospital for in adults, where it is typically guide better treatments, as well as giving Children NHS Trust [GOSH], but caused by a multitude of factors, profound insights into other, seemingly “Thanks to the combined research of a they could not give us a diagnosis either. the majority of children with unrelated disorders. number of experts and clinical specialists, kidney failure were born with we could link all of the symptoms of EAST it, suggesting a genetic basis. Dr Böckenhauer’s most recent success syndrome to a single genetic defect,” has been identifying the genetic basis of Dr Böckenhauer says. “By doing so, we “The decoding of the human a rare form of kidney disease that prevents can now finally provide patients like Ben, genome and advances in the children from retaining vital mineral salts. and their families, with a diagnosis and technologies of DNA analysis explanation, which is a huge relief for them have dramatically accelerated “We’re all ultimately descended from as they have often worried for many years the discovery of the genetic sea-dwelling fish,” Dr Böckenhauer about the nature of the disorder and what basis of disease. This is what our explains. “We can think of the kidneys the future may hold. We can also collect group specialises in, as we hope as having evolved to keep some of that clinical information, which suggests that a better understanding of sea inside us, in the form of dissolved that EAST syndrome is not progressive: genetics will enable us to develop salts such as sodium and potassium. a huge reassurance to the families. novel treatments. I have this Without the kidneys maintaining this dream of a brave new medicine, stable internal mixture of salts, our brain, “Further to this, we also have a viable where we will be able to rapidly nerves and muscles could not function: animal model which we can use to pinpoint the precise molecular our hearts would not beat, our minds screen potential therapies, and which problem in individual patients, could not think. We have several unique gives us an insight into new routes to and on this basis, provide specialist renal clinics here at GOSH, treat each of the component symptoms personalised and specific one of them with Dr William van’t Hoff, of the disease. Sharing our knowledge counselling and treatment.” dedicated particularly to disorders of means we can really make progress in salt handling. This allowed us to identify treating the actual disorders, as opposed a group of children who couldn’t retain to just battling to lessen the symptoms.”

18 Research Review 2009 How rare disorders can unlock the pathway to precise diagnoses Tracing the living pathways of the brain Dr Chris Clark is applying the latest techniques in magnetic resonance imaging (MRI) to document the natural history of the brain in ways as yet unexplored in a paediatric setting. Building up a picture based on the living connections of nerves could transform surgical planning and reveal new insights into the biology of the body’s least understood organ.

Dr Chris Clark MRI can reveal the internal structure of “Taking cancer as an example, tractography “I’ve been working in the field the human body on an unprecedented enables us to see if a tumour is either of neuroimaging for about 15 scale. When applied to brain imaging, growing within or disrupting the path of a years, and had the good fortune it provides detailed information on the major tract of nerves running through the to work on a technique called shape of the various regions of tissue, brain,” Dr Clark says. “This information diffusion MRI [magnetic and allows doctors to see how blood just hasn’t been available before. It means resonance imaging], which flows to different areas as well as helping surgeons can plan their operations much has since blossomed into one them to locate and identify tumours and more precisely, as they’re in a far better of the most important methods other structural abnormalities. position to determine whether surgically for studying the structure removing a child’s tumour will damage and organisation of the living A somewhat less well known application key nerve pathways. Getting this right human brain. I originally trained of MRI is tractography. This makes use of is critical – it can mean the difference in physics, and my research the directional properties of the complex between successful surgery and group at the UCL Institute network of nerves running throughout the life-long paralysis.” of Child Health [ICH] now brain to reveal structures previously only consists of a range of specialists, visible by dissecting brain tissue itself. Dr Dr Clark and his colleagues have also including computer scientists, Clark is carrying out research to explore its begun expanding this work to classify statisticians, neurologists and value when compared to conventional MRI. different tumour types according to neurosurgeons. their unique signature. They compared “What’s exciting is that tractography information from scans of tumours in “I had previously worked in allows us to make a living map based the cerebellum – a region of the lower research groups looking at adults on the intricate directional structure of brain which accounts for over half of all with multiple sclerosis, epilepsy the nerves and other tissues criss-crossing childhood brain tumours – with tissue and vascular dementia. I came to the brain,” he says. “It also gives us a way collected during surgery. Their findings ICH four years ago to undertake to quantify the unique structure of each suggested that this imaging could give neuroimaging research in region of tissue – a kind of navigational accurate diagnostic information on the children. Because the brain is signature – which is immensely useful type of tumour in more than 80 per cent rapidly changing during normal when comparing different regions. of cases. It will also reliably identify some development, this research Previously, the only means we had to tumours prior to surgery, which would presents a number of challenges see many of these structures in detail otherwise be impossible to distinguish and difficulties. I have always was by examining sections of brain using alternative imaging methods. placed the translation of new tissue taken from post-mortems.” techniques into the clinical Dr Clark hopes to build on this work to arena very highly. I really enjoy Applications of tractography are already form the basis of a clinical tractography working with a wide range of showing their value in clinical settings. One service. “The unique information we’re colleagues at Great Ormond strength of the technique lies in its ability gathering means we can start looking Street Hospital for Children to visualise regions of brain tissue which at how tissues in the brain respond to NHS Trust, the scope of whose are physically connected and therefore treatments in a much more sensitive work is unparalleled in the UK. functionally linked. Making a map of these manner, and begin to build up a far I hope that the work we have connections of nerve tissue – the ‘tracts’ more detailed picture of how the brain done on mapping the pathways that give the technique its name – provides develops in healthy children,” he says. of the brain for neurosurgical a unique, patient-specific insight into the “There’s potential for us to improve planning will become a routine structure of the brain, arming surgeons treatments for children with conditions clinical service and improve with invaluable information. from epilepsy to cancer, and inform outcomes for children following surgery on a number of levels – we’re surgical procedures.” starting down an entirely new way of looking at the brain.” Jahnai is having a head MRI scan today. He is a big Spider-Man fan and has chosen to watch the film during his hour-long scan. Tracing the living pathways of the brain Research Review 2009 21 Finding the triggers to mend a broken heart Having received widespread acclaim for his work in finding a protein that triggers blood vessel development in the heart, Professor Paul Riley is expanding his efforts to discover new ways of combating heart disease. His hope is to pave the way for therapies that avoid the need for organ donation.

Professor Paul Riley Science rarely, if ever, progresses in terms He is also looking to further expand the “I fell rather serendipitously of so-called ‘paradigm shifts’, where a number of routes available for new treatment into cardiovascular sciences single discovery affects a field of research options by discovering additional triggers while I was a post-doctoral so drastically that all prior research must that can stimulate heart tissue repair. An fellow in Canada 12 years ago. be re-evaluated in light of the new findings. exciting approach lies in collaborative work I was inspired by the likes of That said, researchers’ careers can with UCL Chemistry to screen hundreds Eric Olson, a US heavyweight certainly be transformed as a result of a of small drug molecules to find those with within the field, to pursue single publication – a fact well known to a potential clinical application. Professor research into how the heart is Professor Riley and his team, who hit the Riley’s team has found one drug in put together during development, headlines recently with their study into the particular which, remarkably, triggers the as a means to assess what goes mechanisms of heart development. heart stem cells to grow into a type of cell wrong in human congenital called a myofibroblast, usually only seen heart disease. “Our paper, published in Nature, described in scar tissue. the function of a protein called thymosin ß4, “A significant focus, here at the which we demonstrated could stimulate the “We’d never expect to see stem cells UCL Institute of Child Health, growth of new blood vessels by activating grow into this kind of cell, which is has been on a downstream stem cells in the epicardium [the outer responsible for scarring and fibrosis, molecule, thymosin ß4, which layer] of the developing and adult heart,” during development, as the embryonic both underpins the formation Professor Riley says. “The paper completely tissue they are derived from simply does of blood vessels in the embryonic changed my life – suddenly I was being not scar,” Professor Riley says. “This heart and stimulates new vessel asked to present at conferences all over suggests we’re targeting a pathway growth in adult hearts after an the world and carry out reviews for top-tier actively suppressed in the developing ‘attack’. This work was ultimately journals. I’m very grateful for the efforts of heart. If we can either modify our small rewarded with an Outstanding my own team of researchers and the help molecule or find a further drug that Achievement Award from of other leading research groups at the blocks this suppressive effect, then the European Society of UCL Institute of Child Health, whose we may establish yet another route Cardiology, something for input has been crucial to the success into promoting the heart to heal itself. which I’m indebted to my of this work.” It’s a fantastic field to work in, as every laboratory team. new step we take brings us a little bit Professor Riley’s challenge now is to closer to finding an alternative to “Now I’m hoping to expand determine exactly how thymosin ß4 invasive surgery and the need for into biological-based ‘drug acts on epicardial stem cells, as well as heart transplantation.” discovery’ and develop ways elucidate what these cells are capable of to stimulate resident heart in terms of their potential for use in new stem cells, both in children treatments for heart disease. Following with premature heart failure the blood vessel study, Professor Riley is and in adults following injury: working on methods to determine whether an exciting foray into thymosin ß4 can repair damaged tissue in translational medicine.” cases where heart muscle has been killed off as a result of a heart attack.

Close partnerships between our researchers and clinicians allow advances in the laboratory to be applied to innovative medical areas. Professor Riley is working closely with our heart transplant team to see if his discoveries can inform future treatments for heart failure. Finding the triggers to mend a broken heart Research Review 2009 23 Linking up the metabolic chain As Professor of Clinical Chemistry, Simon Heales is responsible for advancing research to help children born with a broken link in the chain of metabolic reactions that sustain human life. As there are thousands of such reactions where a life-limiting error can occur, keeping an open mind is a minimum requirement when studying a field known to deliver unexpected results.

Professor Simon Heales Professor Heales originally started his who died from these disorders, and until Jake’s story “Literally thousands of chemical career as a biochemist at the UCL Institute our efforts, there was neither a reliable by Shoba Vazirani and Lisa Flint reactions are occurring in each of Child Health (ICH) in 1988. “Coming diagnosis nor a cure. By screening samples “When Jake was born in 1998, I sensed “It“ was at this time we met Professor Simon of the cells in our bodies. These back to Great Ormond Street Hospital of patients’ cerebrospinal fluid, we found something wasn’t right. Over the next few Heales, the person who had uncovered metabolic pathways are, for most for Children NHS Trust [GOSH] was like the exact molecular pathways that weren’t months, he developed feeding problems the astonishing diagnosis. We learnt that of us, very finely tuned and enable coming home,” he says. “What’s really functioning – the missing links in their and wasn’t able to put on weight as quickly only around 17 cases of AADC had been us to function in a normal way. driven my work is the potential to interact metabolism. As a result, we have so far as other babies. Our GP referred us to a diagnosed worldwide, and that Jake was Unfortunately, approximately with so many other specialists. I’m always been able to define four entirely new specialist who said Jake had quadriplegic the only British child with the condition. one in 500 children is born with surprised by whose insight will provide a metabolic disorders.” cerebral palsy – he’d never walk or talk. It Despite this, it was honestly like winning the an inherited metabolic disease. clue to a new line of research.” was a massive blow which left us devastated. lottery, because we finally knew that Jake This means that such children A precise diagnosis not only reassures didn’t have cerebral palsy and that he might have an enzyme deficiency that Specialist research is certainly critical to patients and families, but with input from “I“ set about learning everything I could be able to receive the proper treatment. leads to a failure of critical progress in metabolic medicine – a field other specialist units, it also paves the about cerebral palsy and quickly became chemical reactions. covering any disease affecting one of the way for effective treatments. In the case convinced that my son didn’t have it – “Jake was three and a half then. several thousand biochemical reactions of one of the disorders, called TH (tyrosine his symptoms just didn’t fit. With medication developed to treat “During my PhD, I worked occurring within the body. Finding the hydroxylase deficiency), a drug already Parkinson’s disease in adults, by the on one metabolic pathway broken link in what is a vast interwoven licensed for Parkinson’s disease was able “Over the next two and a half years, I time he was five, he was walking. affecting the brain’s ability metabolic chain can be a considerable to restore dopamine production and lead tried many treatments to help Jake walk. He’s now 12 and takes between to produce chemicals essential task for clinicians when children present to a dramatic improvement in children’s But, by sheer chance, he was finally – and six and nine different drugs several for neurological development. with a metabolic disease. Sadly, due to controlled movements. With UCL Partners correctly – diagnosed. He got a diarrhoea times each day to preserve his As I worked on the project, a relative lack of expertise, many families increasingly bringing together experts bug, was rushed to hospital and took five mobility and health. Sadly, as I became increasingly aware are referred to multiple hospitals around with complementary skill sets, Professor weeks to recover. He was put through a well as AADC, he also has that the better we understand the UK without receiving any kind of Heales is understandably buoyant as he battery of tests again, but this time the autism, a heart condition, these complex biochemical formal diagnosis. looks to the future. neurologist said he’d do one extra – asthma and severe hay fever. pathways, the greater chance taking a sample of Jake’s cerebral But compared to where he was, we have of developing new Professor Heales is set to build on a “Taking the neurotransmitter dopamine spinal fluid. it’s a small price to pay. He’s able diagnostic methods and history of successes to improve the as an example, a recent link has connected to live as normal a life as possible successful treatments. treatment of metabolic disease, by what was once thought to be a totally “Just a week later, the neurologist called for someone with such a rare drawing on close links between unrelated metabolic disorder affecting saying the sample was positive. Jake had disease, and every day we have “I completed my PhD in 1988 clinicians, scientists and diagnostic the lysosome [a component of the body’s Aromatic L-Amino Acid Decarboxylase with him is truly a blessing.” and was totally hooked on the laboratories at GOSH, the National cells which recycles spent proteins] and Deficiency [AADC], a rare genetic area of inherited metabolic Hospital for Neurology and Neurosurgery, Parkinson’s disease. It now appears that illness affecting the brain’s ability to disease. For the past 22 years, and the ICH – now united under the patients who carry a copy of a mutation produce neurotransmitters essential I have been fortunate enough banner of UCL Partners. One such responsible for a common lysosomal for everyday living. to be part of a team that has success lies in his long-standing disorder called Gaucher’s disease are discovered previously unknown work to diagnose and treat a series five times more likely to develop inherited disorders and of disorders that affect children’s Parkinson’s disease. developed new treatments for metabolism of neurotransmitters – children suffering from them. chemical messengers in the brain – “People often wonder why we persist in For a scientist, to see some of and vitamin B6. trying to understand what many consider your biochemical knowledge to be rare disorders. Exploring the metabolic translate into patient care is “Some of these children present with link between Parkinson’s and Gaucher’s an amazing experience – one movement disorders and seizures, due disease is just one of a number of that many do not get. However, to their illness preventing them from unexpected applications of the research the strong clinical-scientific producing neurotransmitters such as we do, in addition to developing targeted environment created here makes dopamine,” Professor Heales says. treatments that clearly benefit children this a regular experience.” “Some of them had family members with metabolic disease. You just never know what the broader benefits of your work will be in the long run.”

24 Research Review 2009 Linking up the metabolic chain Long-term health through life-long research Putting advanced medical developments into practice in a way that benefits entire populations requires a particular type of translational research, often overlooked in the race to find new cures. Professor Carol Dezateux’s work aims to bridge this so-called ‘second translational gap’ with studies which aim to understand the factors underpinning a healthy life.

An early influence on Professor Dezateux’s The most recent of these UK-wide birth Professor Carol Dezateux CBE 1 “My passion for paediatrics was career came from her experiences as a cohorts – the Millennium Cohort Study – fired as a medical student. An young paediatrician looking after babies has enabled Professor Dezateux and interest in research came later, with acute bronchiolitis – an inflammation colleagues at the Medical Research inspired by my experiences as a of the airways of the lungs. Although the Council Centre of Epidemiology for junior doctor working during a specific virus which most commonly Child Health to identify factors underlying winter epidemic of bronchiolitis causes bronchiolitis affects almost all the significant levels of obesity among in Hackney. But the possibility children within their first two years of pre-school children, from a range of of research training only life, doctors didn’t understand why some ethnic backgrounds. Her latest research materialised once I started babies with this infection developed aims to establish the extent to which working at Great Ormond wheezing and became severely ill, while reduced physical activity contributes to Street Hospital for Children others experienced only minor symptoms. obesity in young children, the incidence NHS Trust. Professor Dezateux soon realised that of which has nearly doubled over the investigating children at the point at which past 25 years. “I began as a doctoral research they were admitted to hospital could not fellow in Janet Stocks’ laboratory, answer questions about the environmental “Children are getting more overweight, measuring airway function in and social factors contributing to their at an earlier age; if we’re to help reverse young babies recovering from illness. She therefore embarked on an the trend, we need to find out precisely bronchiolitis, but knew that ambitious study to measure healthy why this is. Our research team has used I would need formal training babies’ airways in the first weeks of life. accelerometers [devices which record in epidemiology to progress the duration and intensity of motion] my research ideas. Catherine “As a result of mothers being willing to to measure activity in more than 7,000 Peckham, newly appointed place their trust in our research, we carried children participating in the Millennium as Professor of Paediatric out a series of tests on healthy babies,” Cohort Study. This will add to and Epidemiology at the UCL Professor Dezateux says. “We found enhance information we’re capturing on Institute of Child Health, that mothers smoking during pregnancy children’s growth and body fat, nutrition encouraged me to obtain a and early infant exposure to tobacco and psychological development, to form Wellcome Trust training smoke affected airway size and growth a more complete picture of the experiences fellowship in epidemiology. in very early life, and increased the risk of children from diverse social, ethnic and of babies developing wheezing illnesses.” family backgrounds. “This broad training has helped me to develop my research at Professor Dezateux has since directed “Extending this kind of research to the the interface of clinical, her research to investigating the early wider population is critical if we’re to make laboratory and epidemiological origins of disease. “My interests have a lasting impact on issues of major public sciences. One of my goals as always been in using biological measures health importance for children,” Professor Head Director of the Medical obtained in early life to help understand Dezateux stresses. “Cohort studies have Research Council (MRC) how the environment in its broadest sense the potential to address key questions Centre of Epidemiology for affects a child’s health and development,” about the interplay between biology and Child Health and Chair of the she says. “The challenge is how you the environment during early life. They MRC Training and Careers introduce these measures into large-scale enable us to understand what influences Group is to encourage young surveys which follow healthy children from the health and well-being of children and clinicians into research, birth – so-called birth cohort studies – so the adults they will eventually become. especially in epidemiology.” that you can begin to determine the often I’m confident that our work will lay a strong subtle factors contributing to disease, and unique foundation for future research before children become ill.” and improvements in child health, which Delivering health benefits to children will last far longer than my lifetime.” worldwide requires a broad understanding of what influences children’s health – 1 The Millennium Cohort Study is one of three politics as much as science. A broad reading internationally renowned cohort studies managed list keeps Professor Dezateux abreast of by the Centre for Longitudinal Studies, based at topical issues relevant to her work. the Institute of Education, University of London. Long-term health through life-long research Research Review 2009 27 Winding back the biological clock on damaged muscles By developing methods to deliver advanced cell therapy to regions of damaged muscle tissue, Dr Jennifer Morgan hopes to help children born with Duchenne muscular dystrophy. Her latest work points to a treatment that may restore healthy muscle in young and old patients alike.

Dr Jennifer Morgan Duchenne muscular dystrophy is a Dr Morgan’s work looks at the therapeutic “My interest in skeletal severe form of degenerative muscle- potential of satellite cells, a population of muscle regeneration started wasting disease, affecting one in 3,500 muscle stem cells that ordinarily lies dormant many years ago, when I tested boys. The disorder arises owing to an within muscle tissue. She and her team the idea of using muscle inherited fault in children’s ability to found that when they injected normal precursor cells called satellite produce the protein dystrophin, a crucial cells into models of damaged muscle cells to repair and regenerate structural component of muscle tissue. tissue similar to that found in patients skeletal muscle in a model of This leads to a progressive loss of muscle with Duchenne, these satellite cells Duchenne muscular dystrophy. fibres as children grow, causing them to repaired and replaced damaged muscle I joined Professor Francesco become steadily weaker until voluntary fibres and restored production of dystrophin. Muntoni’s group with a Medical muscle movement is practically impossible. Research Council [MRC] joint “Not only did we see immature muscle collaborative career development Research into treating Duchenne tissue repaired,” adds Dr Morgan, “we award in stem cell research in muscular dystrophy relies on finding also found that satellite cells were just as 2005, and moved to the UCL ways to re-introduce functional dystrophin efficient at restoring functional muscle in Institute of Child Health when protein into muscles, enabling them to old tissue. This means that any eventual the Dubowitz Neuromuscular regenerate and preventing subsequent therapy based on satellite cells may well Centre relocated here in 2008. muscle fibre loss. Working in the Dubowitz be of benefit to both young children with Neuromuscular Centre, Dr Jennifer Morgan’s Duchenne and older people affected by “Obtaining a Wellcome Trust research focuses on understanding how more severe loss of muscle function.” university award has enabled to repair damaged muscle tissue via me to pursue my studies on the innovative cell therapies. The challenge now is to find a stem contribution of satellite cells cell that clinicians can deliver around to skeletal muscle regeneration, “Healthy muscles are in a permanent state the whole body via a single injection into and we are also investigating of equilibrium, with damaged muscle fibres the bloodstream, as opposed to multiple the possibility of using other being repaired or replaced by muscle stem injections directly into the muscle tissue. types of stem cell to treat cells,” says Dr Morgan. “The problem in “Working with translational researchers muscular dystrophies. I am children with Duchenne muscular dystrophy across the Medical Research Council a co-investigator of the MRC is that their disease unbalances this Centre for Neuromuscular Disease means Centre for Neuromuscular equilibrium. As the progressive effects of that we can draw on facilities such as their Diseases, which will help us a lack of dystrophin take hold, the process rare-disease samples biobank,” says Dr to translate our basic science of breaking down fibres outpaces any new Morgan. “This will be crucial as we test research into treatments for growth, so healthy muscle ends up being ways to deliver stem cells into muscle via neuromuscular diseases.” replaced by non-functioning fibrous and the blood. Combined with ongoing clinical fatty tissue.” trials to restore dystrophin function in Duchenne patients via novel gene-based therapies, it means we’re really beginning to build critical mass in this area.”

Researchers such as Debbie Briggs (above), who is working with Dr Morgan, benefit from the Somers Clinical Research Facility (below), where clinical trials of new therapies can be safely tested in an environment designed to meet patients’ needs. Winding back the biological clock on damaged muscles Research Review 2009 29 Malfunctioning stem cells seeding cancer and epilepsy Since their discovery, stem cells have received a lot of attention as potential therapeutic agents to cure disease. Dr Thomas Jacques’ research investigates how their growth, when misdirected, can instead be the cause of disease – an area he hopes will provide therapeutic answers to a number of urgent clinical questions.

Dr Thomas Jacques Brain tumours are the second most The results suggest that there are a limited “There are two very exciting common form of cancer in childhood. number of stem cells able to cause cancer challenges in pathology that Yet there remain few answers to the in the mature brain. Capitalising on this, attracted me as a junior doctor. fundamental questions of why different with support from Great Ormond Street The first is to diagnose children brain tumours arise and what biological Hospital Children’s Charity, Dr Jacques with diseases of the nervous mechanisms trigger their growth. is undertaking further research to find system, particularly those with biological markers which will pinpoint brain tumours. Based almost Histopathology – testing and observing different subtypes of such tumour-causing entirely on this diagnosis, samples of tissue under a microscope stem cells. And he’s hopeful that results children with brain tumours for markers of disease – plays a key role will stimulate better clinical treatments. can be committed to often in defining how severe a child’s tumour “The project we’re now working on aims lengthy courses of treatments, is, and therefore, how much aggressive to accurately detect the presence of these frequently with toxic drugs. chemotherapy is needed to fight it. tumour stem cells, and find the link between My holy grail would be to be Dr Jacques is keen to apply more the type of cell and the eventual severity of able to say precisely which advanced histopathological methods the child’s cancer. If successful, it means children will respond to a to diagnose tumours more precisely we’ll be a step closer to offering children particular treatment and which according to their specific disease with brain tumours a personalised will not: a fundamental but profile, and tailor treatments accordingly. treatment based on a detailed biological difficult question. This is a understanding of their disease.” very exciting time, as we are “Children with brain tumours present harnessing new molecular with little in the way of medical history These errant cells also seem to play technologies to refine our to give an indication of what has caused a part in other, non-malignant diseases. diagnoses and get closer to the the cancer,” Dr Jacques says. “Which Dr Jacques and his team have preliminary goal of directing treatments to means it has been very hard for us to try evidence to indicate that a different series specific patients. to work backwards to determine why these of abnormal stem cells might play a role tumours occur. My research focuses on in forming brain defects known to cause “The second opportunity that the very early stages of tumour growth – a highly debilitating type of childhood pathology offered me was to an area where we’re now starting to epilepsy – focal cortical dysplasia. “Given understand diseases of the brain gain some fascinating insights.” the lack of reliable disease models for by studying tissue from patients. studying such severe forms of epilepsy, This is leading us to very exciting Historically, one of the major problems our work could really help to drive insights into the mechanisms faced by researchers studying tumours advances in this field,” he adds. of epilepsy in childhood. has been to determine if any cell can These studies will help us to become cancerous, or whether there is understand how the diseases a population of specific precursor cells arise and, ultimately, to where the wrong genetic trigger induces improve treatment.” uncontrolled malignant growth. To help resolve this issue, Dr Jacques’ team and colleagues at the Institute of Neurology investigated an area of the brain containing populations of stem cells. They found that a discrete series of genetic mutations in a specific type of stem cell triggered clearly defined types of tumour. When they induced the same genetic mutation An archive of tissue samples enables in more mature brain cells, there was our researchers to make connections no tumour growth. between the unique disease profiles of each patient, forming a platform for future discoveries, such as Dr Jacques’ work linking cancer and epilepsy. Malfunctioning stem cells seeding cancer and epilepsy Research Review 2009 31 Dietary supplements to prevent neural tube defects Inositol, a common vitamin related to glucose, could be key to reducing the incidence of babies born with neural tube defects such as spina bifida. Following four years of painstaking preparatory work, Dr Nick Greene and colleagues have launched the UK’s first clinical trial to test its potential use.

Dr Nick Greene Neural tube defects constitute the second “Having shown that inositol was a “My research has focused most common birth defect after congenital candidate for preventing neural tube on the early development heart disease, affecting one in 1,000 defects, in 2005 we received a grant from of the central nervous system, newborns. Such defects arise when the the Medical Research Council to begin beginning in 1993 when I came neural tube – the developing structure clinical trials in mothers at risk of having to the UCL Institute of Child which will become the brain and spinal a baby with the disease,” Dr Greene says. Health to carry out PhD studies cord – is not completely formed in the “It then took us four years to get to the with Professor Andrew Copp. early embryo. Dr Greene has spent his point where we could start recruiting With the exception of a period research career looking for the biological patients to take part in the trial. The of post-doctoral training causes of these defects, and may be close reason is that, although inositol is elsewhere, we have worked to a landmark discovery to help further available as a health food supplement, together ever since, and it has reduce their occurrence. we’ve had to ensure that the product been a hugely enjoyable and we give to parents meets strict medical productive collaboration. The risk of neural tube defects is manufacturing requirements.” reduced by up to two-thirds if women “The challenge of my work take folic acid supplements during Dr Greene and his team have now is to understand what might pregnancy. “However, we’re still a long gained the necessary regulatory approvals. seem quite a simple process: way off knowing why such defects still Despite the delay, they are now in a far how does a sheet of cells turn occur,” Dr Greene says. “The problem better position to roll out the Prevention into a tube which will then has been that we understood neither the of Neural Tube Defects with Inositol become the brain and spinal genetics behind the disease, nor how to (PONTI) trial to other centres – initially in cord? In fact, this is a remarkably prevent neural tube defects in those cases the UK and then, ultimately, internationally. complex, though elegant process, that don’t respond to folic acid. Our goal Should it prove successful, the PONTI trial the failure of which leads to is to use laboratory models to build up a will be the first of its kind since the early serious birth defects. picture of the genes and proteins that are 1990s to demonstrate the effectiveness needed to build the neural tube, and to of a nutritional supplement as a means “It’s tremendously exciting that understand how they act together to to prevent birth defects. we have now reached a point produce the mechanical force needed where we can apply the findings for its closure.” While the trial is ongoing, Dr Greene is of our laboratory research to continuing work to unravel the genetic possible clinical uses. Speaking These laboratory models also provide a and cellular causes of neural tube defects. to patients taking part in our means to test possible preventive methods, “We’re confident that we’re making progress clinical trial is a great motivation and in one such model, Dr Greene and his in finding the precise genetic pathways that to find out how and why these team discovered that a naturally-occurring malfunction in neural tube defects and how disorders happen.” carbohydrate called inositol could prevent these relate to folic acid metabolism,” he disease, even in the absence of dietary says. “If we can pinpoint the genes that folic acid. increase a child’s risk of neural tube defects at the same time as the PONTI trial, it would give us a new route into preventing the disease. Then we’re in a real position to make a difference.”

Research can provide robust evidence for innovative medical uses of even common substances. Regulatory frameworks must recognise the potential of expert studies to inform both healthcare and consumer choice, and must facilitate those, such as the inositol trial, which seek to address urgent clinical issues. Dietary supplements to prevent neural tube defects Research Review 2009 33 Our unique breadth of specialist staff nurture new ideas, applying them to urgent medical problems, to transform children’s lives.

Biomedical Scientist Oliver Campos carries out research on the array of biological tissues in Dr Thomas Jacques’ laboratory at the UCL Institute of Child Health. Awards, honours and prizes 2009 Staff from the UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust received national and international recognition for their research achievements during 2009.

Dr Anil Abeyrewickreme was awarded Professor Anthony Costello was made a Professor David Goldblatt, Director of Dr Albert Kwok was awarded a PhD for a PhD for his thesis, The effect of BMP4 Fellow of the Academy of Medical Sciences. Clinical Research and Development for the his thesis, A Comparative study of cationic on Haematopoietic Stem Cells. joint Institution and Director of its affiliated formulations for the delivery of siRNA Professor Helen Cross was appointed National Institute for Health Research and DNA. Dr Melanie Adams was awarded a PhD as clinical adviser to the update of the Specialist Biomedical Research Centre, for her thesis, The management of feeding National Institute of Clinical Excellence was appointed as the programme manager Professor David Latchman was difficulties in children with cerebral palsy guidelines for the diagnosis and for Child Health. appointed by the Mayor of London as a in Bangladesh. management of the epilepsies in primary member of the Promote London Council. and secondary care. Professor Cross was Dr Rachael Gregson received the He was also appointed a member of Dr Topun Austin was awarded a PhD also appointed Chair of the Task Force for SPARKS Excellence in Medical Research the London Steering Committee of for his thesis, Assessment of Cerebral the International League Against Epilepsy award for quantifying physiotherapy the European Regional Development Oxygenation in The Newborn Infant (ILAE)/International Bureau for Epilepsy techniques in ventilated children. Fund and the European Social Fund. Using Optical Techniques. and the World Health Organization Global Campaign against Epilepsy; Chair of the Dr Mike Grocott was awarded an Dr Joy Lawn was awarded a PhD for Dr Sean Barry was awarded a PhD for his Task Force of ILAE for Paediatric Epilepsy MD for his thesis, Measuring morbidity her thesis, 4 Million Neonatal Deaths: thesis, Investigating the role of JAK/STAT Survey (Commission for Paediatrics), and following major surgery. An analysis of available cause of death and MAPK Pathways in Ischaemia/ Chair of the Education Sub-Committee of data and systematic country estimates Reperfusion Injury and Inflammation. the ILAE Commission of European Affairs. Dr Esther Hamblion was awarded a with a focus on birth asphyxia. PhD for her thesis, The Epidemiology Dr Suzanne Bartington was awarded Dr Gloria Dimco was awarded a PhD of Hereditary Retinal Disorders in the Dr Kingyin Lee was awarded a PhD for a PhD for her thesis, An epidemiological for her thesis, A novel role for STAT1 United Kingdom. his thesis, FGF and TGFbeta signalling Assessment of Viral Infections in in Cell Cycle regulation. in craniosynostotic osteoblasts. Pre-school Aged Children Using Professor David Hatch received Biomarkers in Oral Fluid. Dr Robert Dinwiddie received an award an Honorary Fellowship of the Royal Dr Charles Li was awarded a PhD for life-time achievements from the College of Paediatrics and Child Health. for his thesis, The role of MHC Class I Dr Kate Bennett was awarded a PhD British Paediatric Respiratory Society. in Inflammatory Muscle Diseases. for her thesis, The use of proteomics Mrs Summer Hawkins was awarded a and mass spectrometry to investigate Dr Agnes Dzwonek was awarded an MPhil PhD for her thesis, Obesity in pre-school Dr Halima Moncrieffe won a prize at the interactions between proteases and for her thesis, The role of Mannose-binding children: an analysis of policy-relevant the Young Investigators Meeting of the protease inhibitors in the skin barrier. Lectin (MBL) in paediatric infection. risk factors. 2009 Paediatric Rheumatology European Society meeting for her oral talk, Generation Dr Richard Chin was chosen as the Miss Lindsey Edwards was awarded a Dr Daljit Hothi was awarded an MD (Res) of novel pharmacogenomic candidates in winner of the Young Investigator of the PhD for her thesis, Crohn’s Disease-in vitro for his thesis, An investigation into the the response to MTX in juvenile idiopathic Year Medal for 2009. The award is and ex vivo innate epithelial responses mechanisms, consequences and arthritis (JIA): correlation between gene generously funded by SPARKS (Sport to bacterial stimulation. moderators of intradialytic hypotension expression and genotype. Aiding Medical Research for Kids) and is in paediatric haemodialysis. given annually for excellence in research Dr Christina Georgoula was awarded Dr Joanna Morrison was awarded a PhD to an outstanding medically-qualified a PhD for her thesis, Molecular genetic Dr Rosalie Hughes was awarded a PhD for her thesis, Understanding the effect of research worker in British paediatrics. analysis of infantile hypertrophic for her thesis, An investigation into the a participatory intervention with women’s pyloric stenosis. mechanisms by which bim gene expression groups to improve maternal and neonatal Dr Louise Elizabeth Coats was awarded is regulated in sympathetic neurons. health in rural Nepal. a PhD for her thesis, Physiological Professor Christopher Gillberg was adaptation to acute relief of adverse awarded the King’s Medal (Sweden) for Mr Ioannis Kokkinopoulos was awarded right ventricular loading conditions. distinguished service to child psychiatry a PhD for his thesis, Characterisation of and the award of the most distinguished neural Progenitors from the Adult Retina scholar in the University of Gothenburg. and Ciliary Epithelium.

36 Research Review 2009 Awards, honours and prizes 2009 Awards, honours and prizes 2009 Research Review 2009 37 Awards, honours and prizes 2009 continued

Miss Marta Munoz-Alegre was awarded Dr Clare Rees was awarded a MD for Dr Shahla Shah was awarded an Dr Claire Townsend was awarded a PhD an MPhil for her thesis, Development of a her thesis, Surgical Management and MD(Res) for her thesis, The epidemiology for her thesis, Antiretroviral therapy and novel system to induce double-strand Epidemiology of Necrotizing Enterocolitis. of anophthalmos, microphtalmos and pregnancy outcome in HIV-infected women breaks in mammalian cells. coloboma in the United Kingdom. in the United Kingdom. Miss Kate Sadler was awarded a Professor Brian Neville was awarded PhD for her thesis, Community-based Dr Rukshana Shroff was awarded a Dr Don Urquhart was awarded an an Excellence in Epilepsy award by the therapeutic care: treating severe acute PhD for her thesis, Uraemic vascular MD for his thesis, Exploration of the UK Chapter of the International League malnutrition in Sub-Saharan Africa. damage and calcification in children relationship of hypoxia and measures Against Epilepsy. with chronic kidney disease. of clinical status and inflammation in Mr Hemant Sahni was awarded UCL’s children with Cystic Fibrosis. Dr Shao J Ong was awarded a PhD John and Elizabeth Sherris Best Graduate Professor David Skuse was invited to the for his thesis, Epithelial innate defence Student Award for 2008/09. Gordon Research Conference on Genes Dr Ajana Vaidya was awarded a PhD for to Neisseria meningitidis. and Behaviour in Ventura, California. her thesis, Size at birth: an examination Dr Emma Sala Soriano was awarded a Professor Skuse gave a talk on Genetic of meaning and usefulness. A prospective Dr Soo Park was awarded a PhD for his PhD for her thesis, Interactions Between influences on development and functioning study of a cohort of infants born in Nepal. thesis, An investigation of genetic risk Human Dendritic Cells and T Cells of neural systems associated with social factors in primary open-angle glaucoma. Following Adenoviral Infection in Health cognition in humans. Miss Nisha Vastani was awarded a PhD and Autoimmune Disease. for her thesis, Mechanisms of thermal Dr Mark Peters was awarded a Higher Dr Samatha Sonnappa was awarded a sensitivity in rodent primary afferent Education Funding Council for England Dr Samira Salek-Ardakani was awarded PhD for her thesis, Ventilation Inhomogeneity neurons innervating the skin. Senior Lecturership. a PhD for her thesis, Investigating the as an Indicator of Airways Disease in molecular basis of AMKL and MDS. Preschool Children with Wheeze. Dr Conrad Vink was awarded a PhD for Miss Shawnelle Ponde was awarded his thesis, A Lentivirus-Transposon vector a PhD for her thesis, Programming and the Dr Sujith Samarasinghe was Dr Helen Spencer was awarded an MD for Safer Gene Therapy. Genetic Variability of Body Composition: awarded a PhD for his thesis, Selective for her thesis, Assessment and feasibility A Twin Study. allodepletion to improve anti-viral and of haematopoietic stem cells to differentiate Dr Vanessa Walf-Vorderwuelbecke was anti-leukaemic responses after in to lung epithelial cells in the adult and awarded a PhD for her thesis, A model Ms Ammani Prasad received a Fellowship haploidentical transplantation. growing airway. to investigate the oncogenic activity of of the Chartered Society of Physiotherapy. MLL-fusions in Acute Myeloid Leukaemia. Professor Neil Sebire, with Dr Sanja Stanojevic was awarded a PhD Dr Joel Rae was awarded a PhD for his co-author Professor Harold Fox (University for her thesis, Development and use of Dr Suellen Walker received a Special thesis, Analysis of the requirement for the of Manchester), won two awards for the international reference centiles for lung Interest Group in Paediatric Pain Young Chx10 homeobox gene and FGF signalling textbook Pathology of the Placenta, which function in early childhood. Dr Stanojevic Investigator award from the International for normal retinal development. was commended at the British Medical also received a special 2009 Klosterfrau Association for the Study of Pain. Association Medical Book Awards 2008 award for her research contributions to Dr Ramya Ramanujachar was awarded and highly commended at the Royal Society childhood asthma. Dr Gillian Watterson was awarded an MD a PhD for her thesis, The Molecular of Medicine/Society of Authors Awards. for her thesis, The Mechanism and Efficacy Basis of E2A-HLF Induced Pre-B Acute Professor Sebire was also awarded the Professor Janet Stocks received the of Peripheral Opioids in Paediatric Lymphoblastic Leukaemia in Childhood. prestigious Walter GJ Putschar Lectureship SPARKS (Sport Aiding Medical Research Inflammatory Pain. at the Massachusetts General Hospital for Kids) Excellence in Medical Research Miss Victoria Randall was awarded a and Harvard Medical School. Professor award for quantifying physiotherapy Dr Yin Wu was awarded a PhD for his PhD for her thesis, Investigation into the Sebire gave his first lecture onGestational techniques in ventilated children. thesis, A study of non-classical immune phenotypic and gentic overlap between trophoblastic disease: diagnostic difficulties intereactions with influenza A virus. CHARGE and DiGeorge syndromes during and current issues, and the other on Dr Maria Theodorou was awarded a PhD development of the pharyngeal apparatus. Controversies and developments in for her thesis, Nystagmus and visual acuity. Miss Yan Yang was awarded a PhD perinatal and placental pathology; for her thesis, Characterisation of old problems, new approaches. Parkinson's Disease-Associated Genes and their Regulation.

38 Research Review 2009 Awards, honours and prizes 2009 Awards, honours and prizes 2009 Research Review 2009 39 Grants and donations 2009 The UCL Institute of Child Health continues to receive grants from the following organisations:

A British Journal of Anaesthesia E H Abbott Laboratories British Lung Foundation EC Marie Curie Hammersmith Hospital NHS Trust Abbott Nutrition British Skin Foundation Economic and Social Research Council Health Foundation Academy of Medical Sciences BUPA Foundation Edward Jenner Institute Health Protection Agency Actelion Pharmaceuticals EISAI Ltd Health Technology Assessment Action Duchenne C Eli Lilly and Company Limited Heart Research Action Medical Research Cambridge University Hospitals NHS Elimination of Leukaemia Fund HJ Heinz Company Limited Age UK Foundation Trust Emergency Nutrition Network (ENN) Hestia Foundation Anatomical Society of Great Britain Cancer Research UK Engineering and Physical Sciences Higher Education Funding Council and Ireland Cardiothoracic Unit, Great Ormond Research Council for England Annabel McEnery Childrens’ Cancer Fund Street Hospital for Children NHS Trust Epilepsy Research Foundation Histiocytosis Research Trust Antisoma Research Limited Centocor Epilepsy Research UK Hospital for Sick Children Arthritis Research Campaign Child Growth Foundation European Commission HSA Charitable Trust Arthritis Research UK Child Health Research Appeal Trust European Respiratory Society Human Early Learning Partnership Association Française contre les CHILDREN with LEUKAEMIA European Society for Immunodeficiencies Myopathies (AFM) Children’s Brain Diseases Foundation (USA) European Union I Association for International Children’s Cancer and Leukaemia Group Ichthyosis Support Group Cancer Research Children’s Hyperinsulinism Fund F Institute of Education Association Monégasque Contre Children’s Liver Disease Foundation Fight for Sight International Association for the Study les Myopathies Children’s Research Fund Mr and Mrs Fitzpatrick of Pain Asthma UK Children’s Trust Food and Agriculture Organization International Centre for Child Studies AstraZeneca Pharmaceuticals Chronic Granulomatous Disorder of the United Nations Ipsen Ltd Autism Speaks Research Trust Fondation Leducq Isis Pharmaceuticals AVI BioPharma CLEFT Fondation Genevoise de Bienfaisance CLIC Sargent Valeria Rossi di Montelera J B Colgate-Palmolive (UK) Limited Janssen-Cilag Ltd Baily Thomas Charitable Fund Coronary Artery Disease Research G Jeans for Genes Bart’s Charitable Trust Association (CORDA) Gavriel Meir Trust Jennifer Trust for Spinal Muscular Atrophy Baxter Healthcare Corporation CP Charitable Trust Généthon Johns Hopkins University, USA Bayer Schering Pharma AG CREA Genex Biosystems Joint Information Services Committee Beaufour Ipsen Pharma Cyberonics Europe Genzyme Corporation BIAL Cystic Fibrosis Trust Genzyme Europe K Big Lottery Fund Cystinosis Foundation Gilead Sciences Kay Kendall Leukaemia Fund Bill & Melinda Gates Foundation Cystinosis Research Network GlaxoSmithKline Biologicals Kidney Research Aid Foundation BioMarin Pharmaceuticals Great Ormond Street Hospital Kidney Research UK Biotechnology and Biological Sciences D Children’s Charity Kids Company Research Council Department for Children, Schools Guide Dogs for the Blind Association Kids Kidney Research Bliss and Families Bone Cancer Research Trust Department for Innovation, Universities Bone Marrow Research Trust and Skills British Academy of Childhood Disability Department for International Development British Council Department of Health British Educational Communications Diabetes UK and Technology Agency Dimbleby Cancer Care Research Fund British Eye Research Foundation Duchenne Parent Project British Heart Foundation Dystrophic Epidermolysis Bullosa Research Association (DebRA)

40 Research Review 2009 Grants and donations 2009 Grants and donations 2009 Research Review 2009 41 Grants and donations 2009 continued

L O SHS International V Leukaemia and Lymphoma Research Octapharma AG Siemens Vitaflo Limited Olivia Hodson Cancer Fund Siemens Medical Solutions Vitol Charity Fund M Organon Laboratories Ltd Sir Jules Thorn Charitable Trust Macula Vision Research Foundation Orphan Europe (UK) Ltd Skeletal Dyplasia Group for Teaching W Macular Disease Society and Research Walter Swindon Charitable Trust Mary Kitzinger Trust P SMA Europe Warburg Settlement Mason Medical Research Foundation Paediatric Rheumatology Society for Pediatric Radiology Wellbeing Medical Research Council Discretionary Fund SPARKS (Sport Aiding Medical Research Wellbeing of Women Medical Research Council of Canada Philips Avent for Kids) WellChild Medtronic Philips Electronics (UK) plc Stanford University, California, USA Wellcome Trust MEND Central Ltd Physiotherapy Research Foundation Stanley Thomas Johnson Foundation Welton Foundation Meningitis Research Foundation Primary Immunodeficiency Association World Health Organization Meningitis Trust PTC Therapeutics T Wyeth Laboratories Merck & Co Inc Public Health Laboratory Service Takeda Europe Research and Merck Sharp Dohme Communicable Disease Development Centre Ltd Moulton Charitable Trust Surveillance Centre Tavistock and Portman NHS MSS Research Foundation Foundation Trust Mundipharma Research Limited Q Teenage Cancer Trust Muscular Dystrophy Association Quintiles (UK) Ltd The Royal Society Muscular Dystrophy Campaign Myositis Support Group R U Rank Bequest UBS Optimus Foundation N Research Autism University College London National Alliance for Autism Research Research into Ageing (formerly British Hospitals Comprehensive Biomedical National Institute for Health Foundation for Age Research) Research Centre Research (NIHR) Research into Childhood Cancer UK Newborn Screening Programme National Institute of Mental Health (USA) Rho Incorporation Ulverscroft Foundation National Institutes of Health Roche Products UNICEF National Kidney Research Fund Ronald McDonald House Charities United Nations High Commissioner National Patient Safety Agency Royal Academy of Engineering for Refugees National Screening Committee Royal College of Paediatrics and UCL Neuroblastoma Society Child Health University College London Hospitals Newlife Foundation for Disabled Children Royal College of Surgeons of England Foundation NHS Trust NHS Blood and Transplant Royal National Institute for Deaf People University of Hamburg, Germany NIHR Biomedical Research Centre University of Iowa, USA North Bristol NHS Trust S University of London Central Research Fund North Thames Cleft Regional Service Samantha Dickson Brian Tumour Trust University of Manchester, UK Novartis Sanofi-aventis University of Oxford, UK Novartis Pharmaceuticals Sanofi Pasteur University of Sheffield, UK Novo Nordisk Santhera Pharmaceuticals Novo Nordisk Pharmaceuticals Save the Children UK Nutricia Ltd Saving Newborn Lives (Save the Children USA) Scope International AG SENSE Sheffield University Shire Human Genetic Therapies UK Limited

42 Research Review 2009 Grants and donations 2009 Grants and donations 2009 Research Review 2009 43 Senior academic staff 2009

Biochemical and nutritional Mr Robert Evans BSc BDS MScD FDSRCS Dr Julia Chisholm MRCPCH MA PhD Honorary Senior Lecturers Honorary Senior Lecturers sciences theme (Eng) DOrth MOrth RCS (Ed) Dr Ann Goldman MB BCh FRCP Dr Kate Brown BChir MRCP Dr Paul Aurora BSc MB BS MRCP MSc Mr Ben Hartley BSc MB BS FRCS (ORL-HNS) Dr Gill Levitt BSc MRCP DCH (joint with Portex) Dr David de Beer BSc MB ChB DCH FRCA Theme Leader Mr Robert Hill RCS Dr Raina Liesner BA MB BChir MRCP Dr Michael Burch MB ChB MD Dr Robert Bingham MB BS FRCA Professor Alan Lucas Dr Susan Hill BM MRCP DCH Dr Antony Michalski MB ChB MRCP FRCP FRCPCH Dr Ann Black MB BS DRCOG FRCA Mr Barry Jones MS FRCS Dr David Webb MD FRCP Dr Allan Goldman MB BChB MRCP MSc Dr Philip Cunnington MB BS DA FRCA Nutrition Unit Mr David Jones FRCS FRCS Ed (Orth) FRCPath MRCPCH Dr Nick Piggott MB BS MRCPI MRCPCH Dr Robert Dinwiddie MB ChB FRCP Medical Research Council Professor Mr Loshan Kangesu BSc MBBS FRCS Lecturer Dr Philip Rees MB BChir DRCOG FRCP FRCPCH DCH of Paediatric Nutrition and Head of Unit MS FRCS (Plast) Dr Owen Williams BSc PhD Dr Margrid Schindler MD MB BS Dr Hilary Glaisyer MB BS MRCP FRCA Professor Alan Lucas MA MB Mr Edward Kiely FRCSI FRCS Honorary Lecturer FFICI-ANZCA (joint with Portex) Dr Andreas Goebel MD PhD FRCA BChir FRCP MD FRCPCH FmedSci Dr Michael Mars PhD BDS FDS DOrth Dr Alison Leiper MB BS MRCP Dr Ian Sullivan MB BChir FRACP Dr Louise Harding MB BS FRCS Professor of Biochemistry Mr Fergal Monsell MSc FRCS FRCS (Orth) Mr Victor Tsang MB BS MS MSc Dr Jane Herod BSc MB BS FRCA Professor David Muller BSc PhD Mr Hilali Noorden MA FRCS (Eng) Cardiorespiratory sciences theme FRCS FRCS (Ed) Dr Richard Howard BSc MB ChB FRCA Professor in Childhood Nutrition FRCS (Orth) Dr Robert Yates BSc(Med) MB Bch Dr Elizabeth Jackson BSc MB BS Professor Atul Singhal MB BS DCH Dr Neil Shah MB BS PhD Theme Leader MRCP FRCA MRCP MD Mr Paul Smith FRCS Professor John Deanfield Portex Anaesthesia, Intensive Therapy Dr Ian James MB ChB FRCA Emeritus Professor Dr Virpi Smith FIBMS PhD and Respiratory Medicine Unit Dr David Kilner PhD Professor Brian Wharton MD MBA DSc Mr Brian Sommerlad FRCS Cardiac Unit Professor of Respiratory Physiology Dr Adrian Lloyd-Thomas MB BS FRCA FRCP(L)(E)(G) FRCPCH DCH Mr Stuart Tucker FRCS The British Heart Foundation Vandervell and Head of Unit Dr Richard Martin MBBS FRCA DCHyp Reader in Paediatric Nutrition Professor of Congenital Heart Disease Professor Janet Stocks PhD FRSM MSBST Dr Jonathan Wells MA MPhil PhD Cancer theme and Head of Unit Smiths Medical Professor of Dr Angus McEwan MB ChB FRCA Reader in Childhood Nutrition Professor John Deanfield MD BChir FRCP Anaesthesia and Critical Care Dr Reema Nandi MB BS FRCA, MD Dr Mary Fewtrell MD BMBCh FRCPCH Molecular Haematology Professor of Cardiothoracic Surgery Professor Michael (Monty) Mythen FRCA Dr Kar-Binh Ong BA MB BS FRCA MRCP DCH MA and Cancer Biology Unit Professor Marc de Leval MD FRCS (retired Emeritus Professor of Dr Andy Petros MB BS MSc FRCP FRCPCH Senior Lecturer Reader in Molecular Neurobiology in 2006, but still holds honorary contract) Paediatric Anaesthesia Dr Christine Pierce MD BSc BBS MRCP Dr Margaret Lawson MSc PhD SRD and Acting Head of Unit The British Heart Foundation Professor David Hatch Dr Helen Spencer Dr Jonathan Ham BSc PhD Joseph Levy Professor of Paediatric Honorary Professor in Dr Ranjan Suri MBChB MRCPCH MD Surgery Unit Emeritus Professor of Haematology Cardiac Morphology Cardiovascular Genetics Dr Michael Sury MB BS DA FRCA Nuffield Professor of Paediatric and Oncology Professor Robert Anderson BSc MD Professor Hugh Montgomery BSc MB Dr Mark Thomas BSc MBBChir FRCA Surgery and Head of Unit Professor Judith Chessells MD FRCPath (retired) BS MRCP MD Dr David Walker BM (Hons) MRCP FRCA Professor Agostino Pierro MD FRCS FRCP FRCPath Professor of Cardiology Honorary Reader in Paediatric Dr Isabeau Walker BSc MBBChir FRCA (Eng) FRCS (Ed) Visiting Professor of Professor Philipp Bonhoeffer MD FSCAI Intensive Care Dr Glyn Williams MBBS FRCA MD Reader in Paediatric Gastroenterology Molecular Haematology Professor of Cardiothoracic Surgery Dr Quen Mok MB BS MRCP MRCPI DCH Dr Keith Lindley BSc PhD Professor Paul Brickell BA MA PhD Professor Martin Elliott MD FRCS Honorary Reader in Respiratory Patient Care Research and MRCP(UK) MRCPCH Visiting Professor of Haematology Professor of Cardiology Paediatrics Innovation Centre Senior Lecturer and Oncology Professor William McKenna BA MD Dr Colin Wallis MB ChB FCP (Paed) Chair of Children’s Nursing Research Dr Simon Eaton BSc PhD Professor Ian Hann MD FRCP FRCPath DSc FRCP FESC FACC MD DCH FRCP and Head of Unit Honorary Senior Lecturers Reader in Paediatric and Professor of Cardiovascular Imaging Senior Lecturers Professor Linda Franck PhD RN RGN Mr David Albert FRCS Developmental Pathology Professor Andrew Taylor BA (Hons) MD Dr Eleanor Main BA PhD RSCN FRCPCH FAAN Mr Peter Ayliffe FRCS (Eng) FRCS Professor Neil Sebire BSc MB BS MRCP(UK) FRCR Dr Mark Peters MB BCh MRCP Senior Lecturer (Maxfac) FDS RCS (Eng) DM FRCPath Senior Lecturers Dr Suellen Walker MB BS MM(PM) Dr Faith Gibson MSc (Cancer Nursing) Mr Martin Bailey BSc FRCS Senior Lecturers Dr Andrew Cook PhD (British Heart MSc FANZA FFPMANZCA RSCN RGN CertEd RNT PhD Mrs Mary Calvert BDS FDSRCS Dr John Anderson BA MB BS MRCP PhD Foundation Lecturer) Honorary Senior Lecturer (Ed) MOrth MSc Dr Michael Hubank BA PhD Dr Perry Elliott MBBS MD MRCP Dr Debbie Sell SRSLT FRCSLT PhD Mr Joe Curry MBBS FRCS (Eng) Dr Arturo Sala PhD Ms Catharina van Doorn MD FRCS (C/Th) FRCS (Paed Surg) Honorary Senior Lecturers Mr David Drake MB BChir FRCS FRCPCH Dr Peppy Brock MD PhD

44 Research Review 2009 Senior academic staff 2009 Senior academic staff 2009 Research Review 2009 45 Senior academic staff 2009 continued

General and adolescent Genes, development and disease theme Honorary Professor of Professor of Computational Biology Honorary Readers in Infection and immunity theme paediatrics theme Neonatal Paediatrics Professor Peter Hammond BA PhD Paediatric Nephrology Theme Leader Professor John Wyatt BSc MB BS DCH Professor of Medical and Molecular Dr Richard Trompeter FRCP FRCPCH Theme Leader General and Adolescent Paediatrics Unit Professor Peter Scambler FRCP (joint with UCL Paediatrics and Genetics, Wellcome Trust Senior Dr William van’t Hoff BSc MD Professor Christine Kinnon BSc PhD Nuffield Professor of Child Health Child Health) Research Fellow and Honorary FRCP FRCPCH and Head of Unit (from October 2009) Clinical and Molecular Genetics Unit Reader and Wellcome Trust Senior Consultant in Clinical Genetics Honorary Senior Lecturers Immunobiology Unit Professor Terence Stephenson DM Professor of Clinical and Molecular Fellow in Clinical Science Professor Philip Beales BSc MD MRCP Dr Detlef Böckenhauer MD PhD Professor of Vaccinology and FRCP FRCPCH Genetics and Head of Unit Dr John Achermann MA MD MRCP Senior Lecturer Mr Francis Calder MB FRCS (joint Immunology, Director of Clinical Professor of Paediatric Gastroenterology Professor Gudrun Moore BA PhD MRCPCH (joint with UCL Medicine) Dr Hannah Mitchison BSc PhD with Guy’s and St Thomas’ NHS Research and Development, and Professor Alan Phillips PhD, FRCPCH Professor of Paediatric Metabolic Reader and Honorary Consultant Lecturer Foundation Trust) Head of Unit Professor of Paediatrics Disease and Hepatology in Clinical Genetics Dr Kate Everett BSc MPhil PhD PgDip Mr Abraham Cherian MBBS MS DNB Professor David Goldblatt MB ChB Professor R Mark Gardiner MBBCh MD Professor Peter Clayton MD Dr Maria Bitner-Glindzicz BSc MB FRCS FRCS (Paed Surg) PhD FRCP FRCPCH FRCPCH FMedSci FRCP FRCPCH BS PhD FRCP Medical Molecular Biology Unit Mr Peter Cuckow FRCS (joint with Professor of Immunology Honorary Professor of Paediatric Professor of Genetics and Fetal Medicine Senior Lecturers Professor of Human Genetics and North Middlesex University Hospital) Professor Robin Callard BSc MSc PhD Medicines Research Professor Lyn Chitty BSc PhD MB Dr Elizabeth Carrey PhD Head of Unit Mr Patrick Duffy MB FRCS DipMath BA (Maths) DSc Professor Ian Wong BSc MSc PhD BS MRCOG Dr Khalid Hussain MB ChB MSc Professor David Latchman MA PhD Mr Vass Hadjianastassiou DM(Oxon) Professor of Experimental Immunology MRPharmS ILTM (HE) Professor of Paediatric Endocrinology MRCP MRCPCH DSc FRCPath FRSA FEBVS(Vasc Surg) FRCS (Gen Surg) Professor Tessa Crompton PhD Emeritus Professor of Child Health Professor Mehul Dattani MD FRCP Dr Shamima Rahman MA MRCP Reader in Molecular and Cellular Biology BSc (joint with Guy’s and St Thomas’ Professor of Paediatric Dermatology Professor Brent Taylor PhD MB ChB Professor of Clinical Chemistry (from MRCPCH PhD Dr Anastasis Stephanou BSc PhD NHS Foundation Trust) Professor John Harper MD FRCP FRCPCH FRCP FRACP April 2009) Honorary Senior Lecturers Honorary Senior Lecturer Dr Daljit Hothi MBBS MRCPCH MD Emeritus Professor of Reader in Molecular Cell Biology Professor Simon Heales BSc PhD CSci Dr Angela Barnicoat BSc MD DRCOG FRCP Dr Richard Knight MD PhD Mr Geoff Koffman MBChB FRCS Molecular Immunology Dr Sara Mole PhD FRCPath Dr Caroline Brain MB MD FRCP FRCPCH Lecturer (joint with Guy’s and St Thomas’ Professor Malcolm Turner DSc (Med) Reader in Adolescent Health and Professor of Clinical Genetics and Dr Maureen Cleary MD MRCP MB ChB Dr Vishwanie Budhram-Mahadeo BSc PhD NHS Foundation Trust) PhD FRSC FRCPath Acting Head of Unit (until October 2009) Dysmorphology (until December 2009) Dr Ying Foo PhD Mr Nizam Mamode BSc MBChB Lecturer Dr Russell Viner FRCP FRCPCH FRACP Professor Raoul Hennekam MD PhD Dr Stephanie Grunewald MD Nephro-Urology Unit MD FRCS(Gen) (joint with Guy’s and Dr Wei-Li Di MB BS PhD PhD MBBS Professor of Paediatric Endocrinology Dr Richard Jones BSc MBChB Reader in Nephrology and Head of Unit St Thomas' NHS Foundation Trust) Senior Lecturers Professor Peter Hindmarsh BSc MB MD DPhil MRCPath (from January 2010) Dr Stephen Marks MBChB MSc Infectious Diseases and Dr Eddie Chung MBChB MRCP BS FRCP (joint with UCL Medicine) Dr Melissa Lees MRCP MSc MD FRACP Dr Paul Winyard BM BCh MA MRCP(UK) DCH FRCPCH Microbiology Unit Dr Hannah Mitchison PhD Emeritus Professor of Dr Alison Male BSc MBBS MRCP PhD FRCPCH Mr Imran Mushtaq MD FRCS Professor of Infectious Disease Dr Alastair Sutcliffe MD MRCP MRCPCH Paediatric Genetics Dr Elisabeth Rosser FRCP BSc MB BS Honorary Professor of Nephrology Dr Rukshana Shroff MD MRCPCH PhD and Immunology and Head of Unit Honorary Senior Lecturers Professor Marcus Pembrey BSc MB BS Dr Ashok Vellodi FRCP FRCPCH and Head of Unit (until December 2009) Mr John Taylor MD FRCS (joint with Guy’s Professor Nigel Klein BSc MB BS MRCP Dr Deborah Christie DClinPsych MD FRCP FRCPCH FMedSci Dr Louise Wilson BSc MB ChB FRCP Professor Adrian Woolf MA MD FRCPCH and St Thomas’ NHS Foundation Trust) PhD FRCPCH Dr Haitham Elbashir MBBS FRCPCH DCH Emeritus Professor of Child Health Lecturers Honorary Professor of Nephrology Dr Kjell Tullus MD PhD FRCPCH Honorary Professors MD (Lond) and Growth Dr Kevin Mills PhD Professor Robert Kleta MD PhD Honorary Lecturers Professor Diana Gibb MBChB (Hons) Lecturers Professor Michael Preece MD MSc Dr Owen Williams PhD (joint with Molecular Emeritus Professors of Ms Eileen Brennan RGN RSCN ENB MRCP MD MSc Dip Obs FRCPCH Dr Indrani Banerjee PhD FRCP FRCPCH Haematology and Cancer Biology Unit) Paediatric Nephrology 147 DMS MSc Professor Alan Phillips PhD FRCPCH Dr Jill Ellis PhD Emeritus Professor of Molecular Professor Martin Barratt FRCP CBE Mr Divyesh Desai MB MChir Senior Lecturer Dr Kate Everett PhD Genetics Molecular Medicine Unit Professor Michael Dillon FRCP FRCPCH Dr Sarah Ledermann MRCP Dr Mona Bajaj-Elliott BSc PhD Dr Christina Georgoula MRCPCH Professor Susan Malcolm PhD FRCPath Professor of Molecular Medicine Reader in Paediatric Nephrology Dr Paul Brogan BSc (Hons) MBChB Dr Camilla Salvestrini MD Emeritus Professor of Molecular and Head of Unit Dr Lesley Rees MD FRCP FRCPCH (Hons) MRCPCH MSc PhD (joint with Embryology Professor Peter Scambler BSc MB Rheumatology Unit) Professor Marilyn Monk ChB FRCPath FMedSci Emeritus Professor of Biochemistry Professor in Molecular Cardiology Professor Bryan Winchester MA PhD Professor Paul Riley BSc PhD

46 Research Review 2009 Senior academic staff 2009 Senior academic staff 2009 Research Review 2009 47 Senior academic staff 2009 continued

Honorary Senior Lecturers Senior Lecturer Honorary Senior Lecturers Dubowitz Neuromuscular Centre Neural Plasticity Unit Dr Carlos de Sousa MB BS BSc MD Dr Susan Hall BSc PhD Dr Waseem Qasim BMedSci MBBS Rachel Bryant-Waugh MSc DPhil Professor of Paediatric Neurology Professor of Clinical Neurophysiology FRCP FRCPCH Dr John Hartley BSc MB BS MSc DTM&H MRCP MRCPCH PhD Margaret DeJong MDCM, FRCPsych(Can) and Head of Unit and Head of Unit Dr Catherine DeVile MA MB BS MD MRCP FRCPath Honorary Senior Lecturers FRCPsych(UK) Professor Francesco Muntoni MD FMedSci Professor Martin Koltzenburg MD FRCP MRCP MPCPCH Dr Marian Malone MB BCh BAO FRCPath Dr Cathy Cale BSc MB ChB PhD MRCP Dr Jon Goldin MB BS Honorary Professor Lecturer Miss Silvia Gatscher Dr.med.univ Dr Karyn Moshal MBChB MRCP MRCPCH MRCPath Paramala Santosh MRCPsych MD Professor Caroline Sewry PhD FRCPath Dr Kevin Shields MD PhD MRCP Dr Brian Harding MA DPhil BM MRCPCH DTM&H Dr Alison Jones MRCP PhD DipNB(Psych) Reader in Cell Biology and Wellcome BCh FRCPath Dr Vas Novelli FRACP FRCP FRCPCH Dr Penny Titman PhD Trust University Award holder Neurosciences Unit Mr William Harkness FRCS Dr Delane Shingadia MBBS MPh Lecturers/Clinician Scientists Developmental Biology Unit Dr Jennifer Morgan PhD Prince of Wales’s Chair in Childhood Dr Isabel Heyman BSc MB BS MRCP FRCPCH Dr Siobhan Burns MB BCh MRCPI PhD Reader in Developmental Biology Epilepsy and Head of Unit MRCPsych PhD Dr James Soothill MD MB BS FRCPath Dr Austen Worth PhD and Head of Unit Neural Development Unit Professor Helen Cross MB ChB MRCP Dr Matthew Pitt MD MRCP Clinician Scientist (until October 2009) Dr Patrizia Ferretti PhD GlaxoWellcome Professor of Professor of Paediatric Neurosurgery Dr Robert Robinson MA MBBS MRCP Dr Helen Baxendale BSc MB BS PhD Rheumatology Unit Reader in Developmental Biology Developmental Neurobiology, Professor Richard Hayward FRCS Dr Alison Salt MSc DCH FRCAP FRCPCH MRCP MRCPCH Reader in Paediatric Rheumatology Dr Jane Sowden BA PhD Head of Unit and Director Professor of Paediatric Neurology Dr Patricia Sonksen MD FRCP Honorary Clinical Senior Lecturer and Head of Unit Reader in Craniofacial Developmental Professor Andrew Copp MBBS Professor Fenella Kirkham MA MB BCh DObst MRCOG Dr Garth Dixon BSc MB ChB PhD Dr Lucy Wedderburn BA PhD MB BS Biology and Genetics DPhil FRCPath FMedSci MRCP FRCP Mr Dominic Thompson MB BS BSc MRCP FRCPath FRCP MRCPCH Dr Phil Stanier PhD (joint with Neural Reader in Craniofacial Developmental Professor of Childhood Epilepsy FRCS (SN) Professor of Paediatric Rheumatology Development Unit) Biology and Genetics (joint with National Centre for Young Dr Sophie Varadkar BA MB BCh BAO Molecular Immunology Unit and Director of the Centre of Paediatric Honorary Senior Lecturer Dr Phil Stanier PhD (joint with People with Epilepsy) DCH MSc MRCPI Professor of Molecular Immunology and Adolescent Rheumatology Dr Agnés Bloch-Zupan BChD MBiolMedSc Developmental Biology Unit) Professor Brian Neville FRCP FRCPCH Dr Steve White MA DPhil MB BChir and Head of Unit Professor Patricia Woo CBE MB BS BSc Specialist Certificate PhD Reader in Developmental Neurobiology Professor of Paediatric Neurosciences MRCPsych FRCP Professor Christine Kinnon BSC PhD PhD FRCP FRCPCH FMedSci Dr Nick Greene BA PhD and International Child Health Professor of Paediatrics Senior Lecturer Developmental Cognitive Reader in Developmental Neurobiology Professor Charles Newton MB ChB Ulverscroft Research Group and Immunology Dr Paul Brogan BSc (Hons) MBChB (Hons) Neuroscience Unit Dr Andrew Stoker PhD MD MRCP Reader in Ophthalmic Epidemiology Professor H Bobby Gaspar BSc MB MRCPCH MSc PhD (joint with Infectious Professor of Developmental Cognitive Reader in Developmental Neurobiology Honorary Professor and Director of the Ulverscroft Visual BS MRCP Diseases and Microbiology Unit) Neuroscience and Head of Unit and Wellcome Trust University Professor Sheena Reilly BappSci PhD Research Group Professor of Paediatric Immunology Honorary Senior Lecturer Professor Faraneh Vargha-Khadem Award holder Visiting Professor Dr Jugnoo Rahi MSc PhD FRCOphth and Wellcome Trust Senior Fellow Dr Clarissa Pilkington BSc MBBS MRCPCH MA PhD Dr Juan Pedro Martinez-Barbera BA PhD Professor David Taylor MD FRCP Honorary Professors Professor Adrian Thrasher MB BS PhD Lecturers Visiting Professor Senior Lecturer FRCPsych (Hons) FRCPCH Professor Richard Abadi PhD FRCP FRCPath FMedSci Dr Bin Gao MMed PhD Professor Mortimer Mishkin MA PhD Dr Alan Burns BSc PhD Honorary Visiting Professor Professor Tony Moore FRCOphth Professor of Human Molecular Genetics Reader in Developmental Lecturer Professor Christopher Gillberg Honorary Reader Professor Robin Ali BSc PhD (joint with Neurosciences and mental health theme Cognitive Neuroscience Dr Erwin Pauws BSc PhD Reader in Paediatric Neuroscience Miss Isabelle Russell-Eggitt MA Institute of Ophthalmology) Dr Torsten Baldeweg MD Clinician Scientists Dr Rod Scott MB ChB PhD MRCP MRCPCH FRCS FRCOphth Reader in Molecular Biology Theme Leader Reader in Developmental Dr Thomas Jacques BA MA MB BChir Senior Lecturers Senior Lecturer Dr Kenth Gustafsson PhD Professor Francesco Muntoni Cognitive Neuroscience PhD MRCP Dr Vijeya Ganesan MB ChB MD Dr Jane Sowden BA PhD Reader in Transplantation Immunology Dr Michelle de Haan PhD Dr Nikhil Thapar BSc BM MRCP(UK) MRCP MRCPCH Principal Research Fellow Dr Persis Amrolia BSC MBBS MRCP Behavioural and Brain Sciences Unit Honorary Senior Lecturers MRCPCH(UK) PhD Honorary Senior Lecturers Dr Richard Clement PhD BSc MRCPath PhD Professor of Behavioural and Brain Dr Luc Berthouze BSc Msc PhD Dr Sarah Aylett MB BS MRCP FRCPCH Honorary Senior Lecturers Reader in Molecular Genetics Sciences and Head of Unit Dr Margaret Mayston BSc Msc PhD Dr Stewart Boyd MD FRCPCH Mr Kanwal Nischal FRCOpth Dr Stephen Hart BSc MSc PhD Professor David Skuse MD FRCP Dr Peter Rankin BSc Msc DClinPsy Dr Lucinda Carr MD MBChB DCH FRCPCH Dr Dorothy Thompson BSc PhD MBCO Honorary Reader in FRCPsych FRCPCH Lecturers Dr Hilary Cass BSc FRCP FRCPCH MILT Honorary Lecturer Paediatric Immunology Professor of Developmental Dr Frederique Liegeois BSc MSc PhD Dr Naomi Dale BA MB PhD C.Psychol (BPS) Dr Alki Liasis PhD CPSM Dr E Graham Davies MA FRCP FRCPCH Psychopathology Honorary Lecturer Honorary Reader in Stem Professor Peter Hobson MB BChir PhD Dr Alexander Hogan PhD Cell Transplantation CPsychol FRCPsych Dr Paul Veys MBBS FRCP FRCPath FRCPCH

48 Research Review 2009 Senior academic staff 2009 Senior academic staff 2009 Research Review 2009 49 Senior academic staff 2009 Administration 2009 continued

Radiology and Physics Unit Centre for International Health Professor of Paediatric Epidemiology The planning and executive committee Head of Unit, General and Reader in Imaging and Biophysics and Development Professor Marie-Louise Newell MSc of the UCL Institute of Child Health Adolescent Paediatrics and Head of Unit (from October 2009) Professor of International Child Health PhD MFPHM Dr Russell Viner FRCP FRCPCH Dr Christopher Clark PhD and Head of Unit Professor of Epidemiology and Director FRACP PhD MBBS (Acting Head of Unit Rank Professor of Biophysics and Professor Anthony Costello MA MB BChir Public Health Professor Andrew Copp MBBS DPhil from September 2008, then Professor Head of Unit (until October 2009) FRCP FRCPCH Professor Christine Power BA MSc FRCPath FMedSci Terence Stephenson DM FRCP FRCPCH Professor David Gadian DPhil FMedSci Professor of Global Health PhD MFPHM from October 2009) (Chair of Biophysics) Professor Therese Hesketh MFPHM Professor of Epidemiology Vice-Dean and Theme Leader, Theme Leader, Infection and Honorary Professor of MRCPCH PhD MPH DTM&H DCH Professor Catherine Peckham CBE Genes, Development and Disease Immunity Theme Paediatric Imaging Professor of International Child Health MD FFPHM FRCP FRCPCH FRCPath Professor Peter Scambler BSc MB Professor Christine Kinnon BSc PhD Professor Isky Gordon FRCR Professor Andrew Tomkins MB BS FRCP FRCOG FMedSci ChB FRCPath FMedSci Theme Leader, Neurosciences and FRCP FRCPCH FRCPCH FFPHM FMedSci Honorary Professors Director of Clinical Research Mental Health Theme Honorary Professor of Medical Physics Professor of Disability Studies Professor Diana Gibb MBChB (Hons) and Development Professor Francesco Muntoni FMedSci Professor Andrew Todd-Pokropek PhD Professor Sheila Wirz MEdFCST PhD MRCP MD MSc Dip Obs FRCPCH Professor David Goldblatt MB ChB Theme Leader, Population Health (joint with Department of Medical Physics Emiritus Professor of Child Health Professor Clyde Herztman MD BSc PhD FRCP FRCPCH Sciences Theme and Bioengineering, UCL) and Nutrition MSc FRCPC Director of Learning and Teaching Professor Carol Dezateux CBE MD Honorary Senior Lecturers Professor Sally Grantham-McGregor Professor Heather Joshi MA Mlitt Professor Christine Kinnon BSc PhD MSc FRCP FRCPCH FFPHM FMedSci Dr Alex Barnacle BA MRCP FRCR MB BS MD DPH FRCP Professor Orly Manor BSc MSc PhD Nuffield Professor of Paediatric Surgery Chief Executive, Great Ormond Dr Lorenzo Biassoni MD FEBNM Reader in Global Health Reader in Epidemiology and Professor Agostino Pierro MD FRCS (Eng) Street Hospital for Children NHS Trust Dr Alistair Calder PhD Dr Sarah Hawkes MB BS PhD Public Health FRCS (Ed) Dr Jane Collins MSc MD FRCP FRCPCH Dr Tim Cox FRCR Honorary Senior Lecturers Dr Elina Hypponen MSc MPH PhD Theme Leader, Biochemical and Medical Director, Great Ormond Dr Rose de Bruyn DMRD FRCR Dr Richard Lansdown MA PhD DipPsych Reader in Ophthalmic Epidemiology Nutritional Sciences Street Hospital for Children NHS Trust Dr Marian Easty MBBS MRCP FRCR FBPsS Cpsychol and Director of the Ulverscroft Visual Professor Alan Lucas MA MB BChir FRCP Mr Rob Evans BSc BDS MScD FRSFRCS Dr Roxanna Gunny MBBS Dr Felicity Savage MS BM BCh FRCP Research Group MD FRCPCH FMedSci Institute Manager Dr Melanie Hiorns MB BS MRCP FRCR Lecturers Dr Jugnoo Rahi MSc PhD FRCOphth Theme Leader, Cardiorespiratory Ms Justine Abbott BA (Hons) MBA MSc Dr Wui Khean ‘Kling’ Chong MD Dr Sarah Barnett PhD Senior Lecturers Sciences Theme Head of Research and MRCP FRCR Dr Zelee Hill PhD Dr Helen Bedford BSc MSc PhD Professor John Deanfield MD BChir FRCP Development Office Dr Keiran McHugh DCH FRCR FRCPI Dr Audrey Prost PhD FFPH FRCPCH Ms Jo Southern BSc MSc Dr Amaka Offiah MRCP FRCR PhD Dr Andrew Seal PhD Dr Mario Cortina Borja BSc MSc PhD Dr Oystein Ølsen cand.med (Norway) PhD Dr Xiayi Ke BSc MSc MSc PhD Dr Catherine Owens MRCP FRCR Paediatric Epidemiology and Dr Patricia Tookey BA MSc PhD MFPHM Dr Derek Roebuck BMedSc FRCR Biostatistics Unit Dr Angela Wade BSc CStat MSc PhD ILTM FRANZCR FHKAM (Radiology) Professor of Epidemiology and Honorary Senior Lecturers Dr Karen Rosendahl MD PhD Head of Unit Dr Catherine Bull MA MB BChir MRCP DCH Dr Dawn Saunders MB MD FRCR Professor Carol Dezateux CBE MD Dr David Elliman FRCPCH MFPHM Senior Lecturers MSc FRCP FRCPCH FFPHM FMedSci Dr Elizabeth Miller BSc MB BS MFPH Dr Mark Lythgoe PhD Professor of Medical Statistics FRCPath Lecturers Professor Timothy Cole BA BPhil MA Dr Angus Nicoll CBE MSc FRCP Dr Jonathan Clayden MSc PhD PhD ScD HonFRCPCH FMedSci FFPHM FRCPCH Dr Martin King PhD Professor of Clinical Epidemiology Dr Sandy Oliver BA PhD Professor Ruth Gilbert MSc MD MRCP Lecturer Population health sciences theme Professor of Public Health Dr Claire Thorne BA MSc PhD and Epidemiology Theme Leader Professor Catherine Law OBE MD Professor Carol Dezateux CBE FRCP FRCPCH FFPH

50 Research Review 2009 Senior academic staff 2009 Administration 2009 Research Review 2009 51 Administration 2009 continued

The Board of Great Ormond Street Special Trustees for Great Ormond Hospital for Children NHS Trust Street Hospital Children’s Charity

Chairman (from January 2009) Chairman of Special Trustees Baroness Tessa Blackstone BSc (Soc) PhD Mr Alan Hodson Trustees Executive Directors Ms Gabrielle Abbott Chief Executive Ms Susan Burns Dr Jane Collins MSc MD FRCP FRCPCH Ms Diana Dunston Chief Operating Officer Mr Hugo Llewelyn Ms Fiona Dalton MA (Hons) Oxon Sir Mark Potter Chief Finance Officer Mr Chris Spratling Mrs Claire Newton MA ACA MCT Associate Trustees Co-Medical Directors Dr David Elms MA FCAA Dr Barbara Buckley MB BS FRCP FRCPCH Mr Andrew Fane MA FCA Mr Robert Evans BSc (Hons) BDS (Hons) Mr Michael Weston MScD FRSFRCS (Eng) MOrth RCS (Ed) Director of Nursing, Education Trustees of the Child Health and Workforce Development Research Appeal Trust (until January 2010) Professor Judith Ellis MBE PhD MSc Chairman BSc (Hons) RSCN RGN RNT PGCE Mr Andrew Fane MA FCA Acting Director of Nursing, Education Treasurer (until December 2009) and Workforce Development (from Mr Hugh Stevenson January 2010) Trustees Mrs Janet Williss RN Adult and Child Dr Jane Collins MSc MD FRCP FRCPCH BCS (Hons) MSc Professor Andrew Copp MBBS DPhil Non-Executive Directors FRCPath FMedSci Ms Yvonne Brown LLB Solicitor Professor David Goldblatt MB ChB PhD Professor Andrew Copp MBBS DPhil FRCP FRCPCH FRCPath FMedSci Professor David Latchman MA PhD DSc Mr Andrew Fane MA FCA FRCPath FRSA Ms Mary MacLeod OBE MA CQSW Mr Andrew Ross MA MBA DUniv Mr Charles Tilley FCA

Non-Trust Board Members Director of Clinical Research and Development Professor David Goldblatt MB ChB PhD MRCP FRCPCH Director of Redevelopment Mr William McGill MSc Thomas is three years old and Executive Director, Great Ormond Street is being treated for a rare skin Children’s Charity condition. He is known as King Mr Tim Johnson Thomas on Penguin Ward because he holds court whenever he is there. His favourite games include hiding all of the nurses’ chairs in the playroom and playing hide and seek with his doctors. 52 Research Review 2009 Administration 2009

The child first andalways child first The Research Research 2009 Review

UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust Research Review 2009

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