Th e child fi rst andalways rst fi e child Th Research 2010 Review
UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust Research Review 2010 [email protected] Design ManagerDesign Hospital Street Ormond Great oor Fourth fl Street 40 Bernard 1LE London WC1N E Bengali English or audio print, Braille large Translations, of this uponversions report available are the above. from address request French disponibles sur demande à Traductions en gros ci-dessus. Des versions l’adresse ou audio sont en braille caractères, également disponibles sur demande. Polish na są do uzyskania Tłumaczenia adresem. powyżej żądanie pod podanym Dokumenty dużym drukiem, w formacie lub audio są także do uzyskaniabrajlem na żądanie. Punjabi Somali qoran ku kor cinwaanka ayaa Turjubaan markii la soo codsado.laga heli karaa fartawaa-wayn, Daabacad far indhoolaha xittaa ayaa ama hab la dhegaysto Braille markii la soo codsado.la heli karaa Tamil Turkish adresten edilirse yukarıdaki Talep edilirse, Talep edilebilir. tedarik çevirileri (görme engelliler için)erle, Braille iri harfl edilebilir. sesli şekilde de tedarik veya Urdu WC1N 3JH WC1N 1EH WC1N Trust Institute
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London Great Ormond Street Ormond Great London 30 Guilford Street of Child Health Zoe, age 17, suffers from hydrocephalus, also known as ‘water on the brain’. Today she is in hospital to have some fluid drained and will hopefully only be in for a few days. She loves her cheeky monkey pyjama bottoms and doing her hair and make-up. Contents
03 Director’s report 07 Chief Executive’s report 09 Research and Development report
Research
13 15 16 19
Research on children, In search of targeted Refusing to be beaten Let the right sun in for children cancer therapies Dr Hannah Mitchison Dr Elina Hyppönen Professor Terence Stephenson Professor Kathy Pritchard-Jones
21 22 25 27
Relearning how to learn Healthy lifestyles Kidney cures from cancer Personalising children’s Professor Faraneh Ms Julie Lanigan and drugs to citrus fruit treatments for arthritis Vargha-Khadem Professor Atul Singhal Dr David Long Professor Lucy Wedderburn
People 30 Awards, honours and prizes 2010 33 Grants and donations 2010 36 Senior academic staff 2010 42 Administration 2010 44 Working with UCL Business PLC
Cover: Rosie is 10 months old and has been in hospital for nine of those months due to a gastro-intestinal problem. Her family are very used to hospital life now, and Rosie’s older sister loves the playroom. Research Review 2010 01 Director’s report The UCL Institute of Child Health (ICH) is Europe’s largest academic centre for research and education in children’s health and disease. A highlight of 2010 was the establishment of several new research centres which significantly extend the Institute’s paediatric research profile.
The Louis Dundas Centre for Children’s Members of the Institute continued to Palliative Care became the first unit in the attract significant grant funding from UK devoted to research and education in external bodies, with new grants totalling children’s terminal illness. Myra Bluebond- more than £25 million during the year. Langner was appointed the first True Those leading successful bids in excess Colours Chair in Palliative Care for Children of £1 million were: Professor Andrew Taylor, and Young People, and she set about Dr Silvia Schievano and Dr Tain-Yen Hsia establishing a team to deliver high quality, for Multi-scale modelling of single ventricle collaborative studies to inform practice hearts for clinical decision support and policy in this important, but previously (Fondation Leducq); Professor Russell neglected area of paediatrics. In addition Viner for Improving the assessment and to the Dundas family and True Colours Trust, management of obesity in UK children and the new centre benefits from generous adolescents (National Institute of Health donations from the Charles Wolfson Research [NIHR]); and Dr David Osrin for Charitable Trust, Marie Curie Cancer Care, Community resource centres to improve and the Raisa Gorbachev Foundation. the health of women and children in Mumbai slums: a cluster randomized The ICH’s Nuffield Professor of Child controlled trial of a complex intervention Health, Professor Terence Stephenson, (Wellcome Trust). was awarded £4.6 million over five years by the Department of Health to establish More than 300 new research papers were a Policy Research Unit (PRU) for the Health published during the year. Highlights include of Children, Young People and Families. the identification of genetic factors regulating Senior colleagues who will lead work brain tumour types (Dr Tom Jacques and streams within the unit include Professor Professor Sebastian Brandner in The Ruth Gilbert, Professor Catherine Law, Dr EMBO Journal), new methods for isolating Miranda Wolpert, Professor Helen Roberts photoreceptors allowing transplant to the and Professor Russell Viner. The PRU’s diseased retina (Dr Jorn Lakowski and aim is to provide evidence for policy Professor Jane Sowden in Human Molecular and practice, so as to promote the Genetics), identification of a lymphocyte health and wellbeing of children, class with key function in autoimmune young people and families. arthritis (Dr Kiran Nistala and Professor Lucy Wedderburn in Proceedings of the Professor Faraneh Vargha-Khadem National Academy of Sciences) and received pump-priming support from identification of long-lasting lung disorders the Provost of UCL to develop a Centre in children born extremely premature (Dr for Developmental Cognitive Neuroscience Sooky Lum and Professor Janet Stocks (CDCN). The CDCN brings together in the American Journal of Respiratory cognitive neuroscience, neurology, and Critical Care Medicine). neuro-imaging and neurophysiology as applied to children’s brain studies, and During the year, several staff received also links with collaborators in mathematics, honours. Professor Anthony Costello engineering and computer science. UCL was elected Fellow of the Academy of is one of the UK’s largest universities, with Medical Sciences for his achievements in a myriad of departments, institutes and research and education for global health; divisions, and it is crucial that we are able Professor Catherine Law was appointed Hope is eight and suffers from to collaborate with those who share interests to the NIHR College of Senior Investigators a lot of allergies. She is here for an outpatient appointment on Kingfisher and have complementary skills. The CDCN for achievements in child health policy Ward so that her doctors can try to is an important step in this direction. find out why she is always so tired. Director’s report Research Review 2010 03 Director’s report continued
research; and Dr Margaret Mayston was Lucy Wedderburn became Professor named Australian Woman of the Year in of Paediatric Rheumatology for research the UK for her work on the physiotherapy into the development of autoimmunity, of disabled children. We were delighted to with particular reference to juvenile arthritis hear of the knighthood for Hugh Stevenson and dermatomyositis. Lucy is leading work in the Queen’s Birthday Honours List. Hugh to identify biomarkers for predicting the and his wife Catherine are long-standing course of autoimmune disease and for benefactors of the Institute, and the Hugh monitoring response to treatment. and Catherine Stevenson Chair of Paediatric Oncology was conferred on Professor Jonathan Wells became Professor of Kathy Pritchard-Jones during 2010. Anthropology and Paediatric Nutrition for research, combining detailed measurement A sad loss this year was the death of of body composition and energetics, with Professor Otto Wolff, former Dean of the the application of anthropological and ICH. A talented paediatrician and academic evolutionary concepts to nutrition. His in metabolic medicine, Otto was a great book, Evolutionary Biology of Human supporter of the ICH right up to the months Body Fatness, is a seminal contribution before his death at the age of 90. The in the modern epidemic of obesity. Institute’s main lecture series is named in his honour, and we greatly miss his Staff promoted to Reader were Dr John attendance and participation (always Anderson for research into immunotherapy with a penetrating question) at his as a treatment for malignancy, Dr Chris eponymous lectures. Clark for research into development of new methods for magnetic resonance imaging A number of Institute members gained of the brain, Dr David Osrin for research academic promotion at UCL in 2010. Persis involving randomised trials to improve Amrolia became Professor of Transplantation newborn care in resource poor countries, Immunology for research in developing and Dr Arturo Sala for research into the clinical protocols to harness the power role of oncogenes in development and of lymphocytes to fight both leukaemia treatment of childhood tumours. progression and viral infection after bone marrow transplant and immunosuppression. These protocols are now widely used to treat seriously ill children for whom few alternative options exist. Professor Andrew Copp Jugnoo Rahi became Professor of Director Ophthalmic Epidemiology for research UCL Institute of Child Health which takes a life-course, epidemiological Zarrar (above) is 10 months old and he and genetic approach to visual impairment. has come into hospital for an overnight As the first Director of the Ulverscroft Vision stay. His body does not produce enough salt, and so his doctor wants to make Research Group, Jugnoo has enabled sure that his medication is correct. interdisciplinary research in eye disease and initiated a new training programme Patients from across the UK and to promote academic ophthalmology. beyond, stand to benefit from the UCL Institute of Child Health’s work, revealing the nature of childhood disease, often via samples of tissue grown and investigated in the laboratory. Director’s report Research Review 2010 05 Chief Executive’s report Great Ormond Street Hospital (GOSH) is the UK’s leading paediatric research institution. We put research at the heart of what we do because we want to find new and better ways to help the children we care for. And that means working closely with our partners.
This collaborative approach is central when they are given to developing children. to our thinking, and in 2010, GOSH This is particularly important in paediatric strengthened relationships with many oncology, where chemotherapy and other medical and academic institutions, radiotherapy can have severe side effects, both in the UK and worldwide. We but too little intervention can run the risk of have continued to work closely with our the cancer recurring. Professor Pritchard- academic partner, the UCL Institute of Jones specialises in individualised Child Health (ICH), as well as colleagues treatments that can reduce these risks, within UCLPartners and those in the and she discusses her pioneering work National Institute for Health Research on page 15 of this Research Review. framework, which includes the Medicines for Children Research Network and Central Early in 2010, a team led by Professor and East London Comprehensive Local Martin Elliott carried out a pioneering Research Network. tracheal transplant on a young patient, Ciaran Finn-Lynch. This complex procedure Our Specialist Biomedical Research Centre was carried out in collaboration with staff (BRC) in Paediatrics, now in its fifth year, from Careggi University Hospital, Florence, has made great progress in translating the University of Leipzig, the Italian National basic medical research into clinical Transplant Centre and the Royal Free benefits for children. One of last year’s Hospital, and involved expertise in tracheal successes has been the BRC-supported surgery, cardiac surgery and bone marrow ICH and GOSH collaboration, GOSgene, stem cell transplant. In the year since then, an initiative for the sequencing of DNA the team has paid close attention to Ciaran’s to pinpoint genetic mutations and aid successful recovery, ensuring that the in diagnosis, treatment and counselling stem cells and blood supply have linked for congenital disorders. to his trachea properly. This observation is of particular importance following an 2010 was the first year of our five-year innovative procedure such as this, but research strategy, and building these it also improves our understanding of relationships is an important part the recuperation process for the benefit of its implementation. To fully realise the of future patients. strategy, we have also been investing in new technology, improving our infrastructure These are just a few examples from the and, last but not least, investing in excellent approximately 800 active research projects researchers and their work. One staff being carried out and employed in Great member we have been delighted to Ormond Street Hospital and the ICH. welcome to our team has been Professor Kathy Pritchard-Jones, who joined our cancer unit in April 2010. An area of medical research that is especially relevant to GOSH is the application of treatments designed for adults to children; although Dr Jane Collins they may be completely safe for a mature Chief Executive patient, careful investigation needs to be Great Ormond Street Hospital made into dose levels and side effects for Children NHS Trust Eighteen-month-old Lily has been in hospital for four months and is a patient on one of our oncology wards. She has three more weeks of chemotherapy to go and then her mum is hoping that they can go home. Chief Executive’s report Research Review 2010 07 Some highlights of our research activity: More than Research and Development report Together, Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH) form one of the world’s leading children’s health research centres.
research studies were conducted in the Somers Clinical 2,250patients Research Facility, with more than were included in studies 40 As part of our mission to benefi t children 2010 also saw the establishment of a new adopted into the National Clinical in the UK and worldwide, a fi ve-year GOSH Division of Research and Innovation within Research Network Portfolio. research strategy was launched in 2010, and the Trust, bringing together the joint GOSH/ patients concentrates our work in fi ve key areas: ICH Research and Development Offi ce, the • Developing novel and Specialist Biomedical Research Centre in improved diagnostics. Paediatrics, the London and South-East • Introducing innovative and leading-edge England Medicines for Children Research treatments and therapies through Network (hosted within GOSH), and the attending220 translational research. Somers Clinical Research Facility. The • Performing high-quality clinical trials Division of Research and Innovation has of medicines and therapeutics. been organised to provide a better service research appointments. • Understanding and preventing the for researchers and consists of a number 932 development and progression of of specialist teams: industrial liaison and childhood illnesses. clinical trial co-ordinators; a research • Evaluating the impact and progression governance team; costings and contracts of disease and our interventions. staff ; and the introduction of Clinical Research Facilitators. This arrangement Our strategy is to build upon, and invest will strengthen key areas within the Trust in, existing areas of strength, while also and facilitate a smoother research developing new areas of expertise where management process. there is a clinical need. We will attract and Over support leading clinical academics and GOSH is committed to improving the patients apply the latest technologies to our unique health of children through research, and 551 and diverse patient population in an eff ort to this extends beyond children attending were recruited to take part in research improve our understanding and treatment the hospital. Through UCLPartners, one of studies at Great Ormond Street Hospital of childhood diseases. Over the next fi ve the UK’s fi rst fi ve Academic Health Science years, we will realise our research strategy Partnerships, GOSH leads a child health through the Medicines for Children by investing in a number of areas including programme aiming to benefi t children at clinical trials were set up; Research Network. buildings, equipment and platform large and, through this and other strategic 223 technologies, infrastructure for clinical partnerships, we remain committed to of which are trials, salary support for senior research improving the health of children worldwide. commercially funded. leaders and investment in the training of 33 future academic leaders in child health. This strategy is essential for a cohesive approach to research across the Trust: to Professor David Goldblatt research embed a research culture and thus integrate Director of Clinical Research projects research with hospital operations, support and Development clinical researchers, and align our aims have been internally peer-reviewed with funders. By focusing on these aims, 70through the Clinical Research By the end and making the most of our strengths and Adoptions Committee; diverse patient population, we can continue of 2010, we had to conduct research at the highest level to Dr Lorna Gibson improve child health. Head of Research and Innovation were approved. active National Institute of Health Research-funded 49 13 research projects and active EU-funded research projects. 16 Research and Development report Research Review 2010 09 Research may be expensive, time-consuming and complicated, but we have to be the ones to push the field ahead. We owe it to our patients.
Ann, a PhD student, working in the UCL Institute of Child Health’s rheumatology laboratories. Research on children, for children The last decade has seen great improvements in policy measures to promote paediatric research. Despite this, the majority of drugs used to treat children have never been licensed for paediatric use. Professor Terence Stephenson has led efforts to ensure paediatric medicine is founded on robust, evidence-based practice, and that governments listen to such evidence when forming health policy.
Professor Terence Stephenson “It’s staggering to think how many answers research studies in the UK. However, “I am the Nuffield Professor there are to the question: ‘What’s the best effectively bridging the gap between of Child Health at the UCL way to treat this child?’ – even when you’re best practice, informative research and Institute of Child Health (ICH) looking at a disease thought to have a evidence-based policy remains a crucial and Great Ormond Street fairly well-known cure,” says Professor issue. This challenge forms the focus of Hospital, and lead one of our Stephenson, Nuffield Professor of Child a major new collaboration being led by eight research themes – General Health at the UCL Institute of Child Health. Professor Stephenson. and Adolescent Paediatrics. I “It just isn’t the case that you simply decided to be a paediatrician take what’s best for adults, or what has With the support of colleagues at when I was a medical student been tested in laboratory models, and UCL, the National Children’s Bureau, and always wanted a clinical extrapolate this to children. So many of the Anna Freud Centre and the Social academic career as I love the breakthroughs we’ve seen in paediatric Care Institute for Excellence, Professor the combination of teaching healthcare couldn’t have been done Stephenson has set up a new Policy students, researching diseases without specifically involving children.” Research Unit for the Health of Children, and treating patients. Young People and Families, funded by This principle has been reflected the Department of Health. “Although my initial research throughout Professor Stephenson’s career. training was in laboratory His early studies revealed a huge diversity “We were tasked by the government to science, I gradually became more between different practitioners in both the address the key areas where modern interested in the challenges of types of antibiotics used to treat pneumonia, healthcare is letting down today’s children,” research on children, for children. and their methods of delivery. More recently, says Professor Stephenson. “We’ll be This has been a neglected field, this work has proven oral antibiotics to be focusing on four main themes: health partly because of the ethical as effective in treating pneumonia as those inequalities and health promotion, mental problems sometimes involved. injected intravenously, with the former health in children under five years old, I have also become more saving around £500 in treatment costs access to health services, and teenage involved in politics, advocating per patient. issues such as smoking and obesity. for children’s needs at a national In each of these areas, it’s crucial we’re and international level as “The common criticism levied against able to deliver evidence that can President of the Royal College involving children in this kind of research genuinely change practice and of Paediatrics and Child Health. is that parents won’t consent to taking part improve children’s health.” in the studies,” says Professor Stephenson. “These two strands of my “Our experience has been quite the opposite. Professor Stephenson is aware that there career have come together in Of the 400 families we approached for the won’t be any quick fixes. Nevertheless, he my new post at the ICH as, pneumonia study, fewer than 40 declined. is hopeful such evidence will encourage with colleagues from inside The results speak for themselves – not only legislation in areas where obvious health and outside UCL, we have was oral antibiotic treatment more cost- gains are to be made. “This country has been awarded £4.6 million effective, but more importantly, it worked a free NHS, free schooling, and free by the Department of Health just as well as intravenous antibiotics. contraception. Given this, it’s remarkable to establish a new Policy This means we can spare children the we’re facing an obesity epidemic and have Research Unit for the Health painful and frightening prospect of needle the highest teenage pregnancy rates in of Children, Young People injections, and allow them to be treated Europe. We desperately need to engage and Families.” at home – an enormous improvement the public and get them involved. I hope for them and their families.” our research provides a much-needed nudge towards healthy preferences Helping to establish national The establishment of supportive bodies, among legislators, the public, and a paediatric health guidelines via such as the Medicines for Children national media often preoccupied with a robust evidence base, Professor Research Network, has provided a much- scare stories and contrary health advice.” Stephenson has established a new Policy Research Unit for improved framework for child-focused the Health of Children, Young People and Families. Research on children, for children Research Review 2010 13 In search of targeted cancer therapies Great Ormond Street Hospital has a long legacy of developing new and life-saving treatments for children with cancer. Though survival rates continue to improve, a pressing challenge remains to ensure children are not over- treated. Professor Kathy Pritchard-Jones’ work is researching increasingly personalised treatments, to give children the best chance of a long-term cure without undue side effects.
Professor Kathy Pritchard-Jones Over the past 20 years, survival rates “The hospital has pioneered unique “When I gained my PhD for children with cancer have climbed research into the long-term health of almost 20 years ago, we were just steadily. This is as much the result of children with cancer,” says Professor beginning to scratch the surface clinical teams working closer together to Pritchard-Jones. “Colleagues such of understanding the genetic consider a child’s outcome, as it is of any as Dr Gill Levitt and her team have changes which take place inside breakthrough leading to new therapies. contributed hugely to our understanding a cancer cell’s DNA, and how Improved scanning and microscopic of the late effects of chemotherapy, so these could predict a patient’s imaging techniques have allowed clinicians we know the damage these drugs can response to treatment. We are to predict more accurately how tumours cause. My challenge is to identify ways now in the era of ‘molecular will respond to surgery or chemotherapy – of determining which children might not medicine’, which means that crucial to determining the best treatment. need these drugs, and give them a more new anti-cancer therapies can However, by themselves, these techniques gentle treatment, without compromising be much more specific and with cannot provide confidence for clinicians to their care.” fewer side effects. recommend that children should receive less chemotherapy, should their treatment Working with the advanced tissue-testing “However, we still need to do be progressing well. facilities at the hospital and the ICH, clinical research if children Professor Pritchard-Jones has recently with cancer are to reap the full “Given the toxicity of many chemotherapy completed a study to understand the benefits of these new medicines. drugs, we have to get better at identifying biology underlying Wilms’ tumour patients’ We have to ensure we offer new who is likely to need prolonged or intensive responses to chemotherapy. The research drugs, especially to children with treatment,” says Kathy Pritchard-Jones, indicates a further 50 per cent of children the highest risk tumours, in a recently appointed as the Hugh and can beat their cancer without requiring safe and controlled way. Catherine Stevenson Professor of Paediatric doxorubicin. This translates to over 25 Oncology at the UCL Institute of Child children a year who can avoid the risks “Having virtually every type of Health (ICH). “Despite our best efforts, of heart damage caused by this drug. therapy required under one roof many children with cancer are consigned In addition, the research has identified makes working here very special to months of potentially unnecessary drug further biological pathways which could for staff, and far less stressful for therapies as a fail-safe in case their cancer be targeted by new drugs to help the patients and their families. One comes back or does not respond. In an few children whose cancer simply does of the pleasures of my job is to age of molecular medicine, I know we not respond to any current treatments. be able to reassure most parents can do better.” that we have treatments that can Professor Pritchard-Jones is understandably cure their child.” Driving this work is a need to combat the keen to progress further with this research. often significant side effects experienced “Techniques based around molecular by children on chemotherapy drugs. medicine mean we’re reaching a stage Professor Pritchard-Jones’ principal area where our therapies can be targeted to of research is in Wilms’ tumour, a relatively patients’ unique biological requirements,” common cancer of the kidneys. Currently, she says. “It means we can take a treatments for the 50 per cent of these ‘less-is-more’ approach, sparing children children who have a medium to high-risk risky and damaging treatment regimes, Wilms’ tumour, receive a drug called but be confident that we’re going to stop doxorubicin, known to carry a risk of the cancer from returning. This really is causing damage to the heart later in life. the future of cancer research, and I’m excited to be working collaboratively with specialists in the UK and around Europe A section of tissue taken from a to make a difference in this vital area.” patient with Wilms’ tumour (above) is shown to harbour cancer-causing mutations in the DNA within its cells (fluorescent red and green, below) when subjected to genetic testing. In search of targeted cancer therapies Research Review 2010 15 Joshua and Samuel’s story “At this point, both boys were referred to Refusing to be beaten by their parents, Sarah and Michael a specialist paediatrician with an interest Cilia – named after the Greek word for ‘eyelash’, but over a thousand “When both our sons, Joshua now 13, in respiratory medicine. He immediately and Samuel, 12, were born, they appeared commenced the correct treatment of times smaller – are tiny, rhythmically beating hairs found throughout to be healthy normal babies. Th is rapidly targeted antibiotics, nebulisers and daily the body. Th ey move biological materials around and clean out the changed, and within 24 hours, both were chest physiotherapy. Since their diagnosis, admitted to the special care baby unit at our both Joshua and Samuel have met all their body’s airways to prevent infection. Th ere are also non-beating local hospital with respiratory distress and developmental milestones. Th is has not cilia, critical for cells to sense the world around them. Dr Hannah a chest infection. Both children improved been without its ups and downs; both boys spontaneously and were discharged for have a vascuport for intravenous antibiotics. Mitchison’s research aims to help the children whose cilia do not home care. Only two years later and after Th ey continue on multiple medications, function properly, and for whom cures remain an elusive goal. many further tests and investigations were antibiotics, nebuliser antihistamines, and the children diagnosed with primary ciliary refl ux medications. A large part of their dyskinesia, an autosomal recessive genetic daily routine is made up of physiotherapy: Dr Hannah Mitchison Understanding the function of cilia hairs hair-like structures aren’t beating properly, condition. Th e tiny hairs or cilia don’t work 15–20 minutes twice a day when well, “Th e fast-moving fi eld of human – barely a thousandth of a millimetre mucus and foreign particles aren’t cleared eff ectively, mainly in the lungs, ears and which increases when they are unwell. disease genetics was an exciting (0.0002mm) wide and found either in from the lungs as they should be. This sinuses. Th e job of the cilia is to remove place to be during my fi rst solitude or in their hundreds on the surface causes chronic recurrent infection and secretions – as they don’t work, secretions “Sport is a very big thing in our house, and postdoctoral research period of almost every cell in the human body – often permanent damage to these children’s sit and get infected. both boys enjoy football, swimming and as part of an international team would be a challenge for any researcher. lungs. The problem to date is there hasn’t cricket. Th ey have many appointments at eff ort that identifi ed the gene However, when these tiny hairs can beat been a consistent way of diagnosing PCD hospital and, despite this rare disease and responsible for Batten disease in unison upwards of 20 times a second, in order to begin early treatment.” the amount of treatment they have, both [CLN3]. Th is kick-started come in a number of diff erent forms and boys are bright, capable children, able to a new understanding of this are built from over 600 proteins in a way Engaging with patients through support live as normal a life as possible.” family of at least 10 fatal which remains mysterious, the challenge groups such as the Ciliopathy Alliance, neurodegenerative disorders. becomes remarkable. and working with UCL Institute of Child Gene identifi cation has led Health colleagues such as Dr Steve Hart, to novel hypotheses about the “Cilia are complex molecular nano- Dr Mitchison has now contributed to causes of these diseases and machines,” says Dr Mitchison. “Until international eff orts that have identifi ed allowed us to progress with recently, we’ve not had many ways of 13 genetic mutations responsible for genetic tests and clinical modelling their function, no genetic tests causing PCD. Several of these mutations trials of new therapies. available to diagnose children whose cilia are associated with the proteins which do not work, and few treatments to off er make up the cilia’s hair-like projections – “For the last decade, I have those aff ected by these diseases.” with any loss of function rendering inert the been increasingly involved in cilia’s ability to beat. However, some of the discovering the molecular basis The consequences of cilia functioning mutations are linked to the cell’s molecular of cilia-based disorders. Recently, incorrectly – when the molecular hairs transport system (the ‘factory production I helped to found the Ciliopathy do not beat in sequence as they should, line’ by which proteins are assembled), Alliance, which provides a or do not send their normal communication revealing a hitherto unknown function collective voice for families, signals – are far from trivial. The resultant for these genes. scientists and clinicians, to diseases, known as ciliopathies, are support and raise awareness responsible for a range of inherited birth “Our discoveries are beginning to shed of these diseases. defects, aff ecting embryonic growth and light on these genuinely mysterious disrupting the development of organs diseases,” says Dr Mitchison. “We hope “I hope our molecular genetics ranging from the lungs and kidney to the that further work will allow us to develop approach, hugely boosted by eyes, the nervous system and the brain. gene therapy – where healthy genes are our recent funding for whole inserted into the malfunctioning cells of exome analysis to identify One form of ciliopathy, called primary the lungs – to provide a potential cure for further disease genes, will ciliary dyskinesia (PCD), has been the children with PCD. We’re only beginning crack open what causes these focus of Dr Mitchison’s collaborative work to make the fi rst steps towards this kind of ciliopathy disorders, just as it with GOSgene, the genetic identifi cation therapy, but I’m hopeful that the more we has for Batten disease and programme run within UCLPartners. “PCD learn about ciliopathies, the better chance primary ciliary dyskinesia.” aff ects the cilia lining the respiratory tract,” we have of helping these children.” explains Dr Mitchison. “Because the tiny
16 Research Review 2010 Refusing to be beaten Let the right sun in For a health supplement readily available to purchase and ‘good for your bones’, we are some way from fully understanding the requirements and effects of vitamin D. Though labelled ‘the sunshine vitamin’ due to the way it is synthesised in our skin, its modes of action remain a relative mystery. Dr Elina Hyppönen’s research is seeking to bring vitamin D out of the shadows and into the sphere of public health debates.
Dr Elina Hyppönen Vitamin D is not merely required for “We are now using these genes as “I became interested in healthy bone growth – it maintains the proxy markers for low vitamin D levels, epidemiology and public health, correct levels of dissolved minerals, such with an interest in looking to understand as to me it made more sense as calcium and phosphorus, in our body, the wider effects of vitamin D deficiency. to focus on prevention where regulates certain types of cell growth, For example, we have recently carried out possible, than to strive to alter and affects our immune function. A lack a study including over 45,000 individuals, things once the damage had of vitamin D is well-known to cause to see whether the low levels of vitamin D already been done. diseases such as rickets, where bones seen in obesity were potentially a cause become soft and deformed. However, of the obesity, or resulted from it.” “It was the findings from my low vitamin D intakes are increasingly PhD thesis which directed my being associated with other diseases, It transpired that low vitamin D levels subsequent research interests: with national vitamin D supplementation were not linked to obesity, but that obesity I observed a strong dose-response a controversial issue for legislation. leads to an increased risk of vitamin D association between infant deficiency and all the adverse health vitamin D supplementation “Though certain oily fish contain dietary consequences related to it. This issue, of and the risk of type one diabetes vitamin D, it is mainly produced in the which environmental factors are causal or in children. This was exciting as, skin following exposure to ultra-violet [UVB] coincidental of childhood disease, remains until then, vitamin D had been rays from the sun,” says Dr Elina Hyppönen, an important challenge. “We have still not considered as something that is who has studied vitamin D-related disease established the levels of vitamin D required mainly needed for bone health, and since completing her PhD studies in Finland to ensure healthy growth or best possible here we were showing evidence over 10 years ago. “There is strong variation health,” says Dr Hyppönen. “My work with for possibly important influences in vitamin D status over the year, with a large the large collaborations brings together a on an autoimmune disease. proportion of individuals likely to have critical mass of researchers and patients insufficient concentrations during winter to ensure the questions we ask will provide “The UCL Institute of Child and early spring.” practical answers to health issues relevant Health has provided a very for adults and children alike.” stimulating research environment, Dr Hyppönen currently works with large with further support provided international collaborative studies, including With 90 per cent of the general UK by the Department of Health the Sunlight Consortium. “We performed a population considered to have sub-optimal Public Health Career Scientist genome-wide analysis of individuals’ DNA levels of vitamin D for health in wintertime, Award which I received in to see whether there were any genes which and 15 per cent of these people at severe 2005. Currently, I lead a large pre-disposed to low vitamin D status,” risk of developing vitamin D-related disease, international collaboration says Dr Hyppönen. “We found four genes it is crucial that interventions are targeted of studies with the aim of associated with the risk of having lower appropriately. “I suppose my aim is to disentangling the causal from vitamin D status, regardless of individuals’ keep children out of Great Ormond Street coincidental in the proposed dietary intake, or exposure to sunlight.” Hospital,” says Dr Hyppönen. “I hope our health effects for vitamin D.” work is able to formally associate vitamin Her initial research suggested an association D with some of the chronic diseases we between vitamin D supplementation and a suspect are linked to its deficiency, and reduced risk of type one diabetes. Since thereby reduce the associated disease then, she and her colleagues have focused burden. However, diseases related to on cohort studies – where large population extreme vitamin D deficiency, such as groups are studied from birth – to determine rickets, should in this day and age be vitamin D’s role in broader health issues entirely preventable.” Further research into vitamin D may such as obesity and cardiovascular health. ultimately ensure at-risk groups, such as pregnant women, receive adequate dietary supplementation should this be required in countries where sunlight exposure is significantly reduced in winter months. Let the right sun in Research Review 2010 19 Relearning how to learn “What does it mean to be me?” is a question usually asked by philosophers rather than scientists. But if your brain is so damaged that it can’t create long-lasting memories and a personal autobiography, making sense of your own identity becomes an enormous challenge. Professor Faraneh Vargha-Khadem is developing ways to support children with these severe and chronic forms of memory disorder, known as developmental amnesia.
Professor Faraneh Since the development of magnetic the hippocampus. She noted that some Vargha-Khadem resonance imaging (MRI) techniques able children with this special form of brain “I arrived at the UCL Institute to map the structure and activity of the damage had experienced a period of of Child Health in 1983 from brain in detail, there has been a revolution oxygen deprivation early in life, sometimes the Montreal Children’s Hospital in the breadth and variety of questions we as neonates, and had gone on to develop McGill University, where I had are able to answer about the human mind. severe memory problems later in childhood been researching how the mind Numerous aspects of language learning and adolescence. compensates for damage to just and memory have been modelled, with one side of the brain, and how insights into what sets us apart from higher “We’re a long way from being able to this impacts on children’s speech apes slowly, but steadily, evolving. repair the brain damage in these children,” and language. says Professor Vargha-Khadem. “However, Nevertheless, the overwhelming majority our studies showed some children were “Fascinated by the hallmark of the mind’s workings remain a mystery. more susceptible to the eff ects of oxygen Original shape Patient’s copy Recall after 40 minutes research of Margaret Kennard Professor Vargha-Khadem, Head of the deprivation than others. If we can fi nd out on the adaptability of the motor UCL Institute of Child Health's (ICH) why, then we might be able to prevent this system, I hoped to explore how Developmental Cognitive Neuroscience damage from occurring in the fi rst place.” focal brain lesions aff ected Unit, has dedicated her career to unlocking children’s higher cognitive its secrets. Despite being a seemingly The team now plans to follow up babies with function. A project grant from impossible challenge, there are pressing heart defects or respiratory problems who the Medical Research Council reasons for her to fi nd ways in which her undergo surgery, to better understand how enabled me to establish a knowledge can benefi t children who have their treatment aff ects brain development research group and, together suff ered brain damage at an early age. and subsequent learning. In parallel, with my colleagues, we started Professor Vargha-Khadem and her team our fi rst set of studies in the “Fifteen years ago, our team began to of collaborators are determined to develop emerging fi eld of developmental see children with no overt signs of brain educational tools and interventions to help cognitive neuroscience. damage, but an inability to bring to mind children with hippocampal injury succeed in the memory of episodes and events of school and gain a degree of independence “As a clinical neuroscientist, their lives,” says Professor Vargha-Khadem. as adults. I have been fortunate to have “Though these children can understand access to unique patient groups, language and complete analytical tasks, “It’s the children who bring the work of as well as the opportunity to they have major problems mapping their Great Ormond Street Hospital and the establish interdisciplinary life experiences onto a timeline of past ICH together – they inspire us to gain a collaborations with imaging events. They struggle terribly to form a better understanding of their diffi culties scientists and neurologists, meaningful personal narrative. For example, so we can devise methods of overcoming enabling me to conduct they typically lose their belongings, get them, and help improve their quality of life”, translational research in a lost in unfamiliar surroundings, forget to says Professor Vargha-Khadem. “It’s so highly stimulating environment. deliver messages, and fail to remember important for children to construct a rich I hope that our research will their homework.” tapestry of their life events and to learn ultimately relieve patients of from their past experiences. We hope the burden brain injury can With Professors Mortimer Mishkin from that our research will eventually provide have on their lives.” the National Institute of Health in the US, these children who have memory problems and David Gadian from the ICH, Professor with the necessary tools to form an Vargha-Khadem traced the brain damage autobiography, and to capture their Children with developmental in these children to a seahorse-shaped memories to share with others.” amnesia can struggle to form structure within the temporal lobe, called memories, as shown by their ability to recall shapes over time (above). Research has shown that this is due to damage to the hippocampus (red and yellow, below), with aff ected children requiring specialist support. Relearning how to learn Research Review 2010 21 Lennon’s story Healthy lifestyles by his mum, Clare Reaching out to children and families with a programme “I was willing to be involved in the Trim “I also looked at how we spend our time. Tots project straight away. I was grateful Now if I turn the TV off and encourage to promote healthy living within their communities, Professor for the opportunity to go somewhere once the boys to sit at the table to do an activity, Atul Singhal and Ms Julie Lanigan are championing a week with my boys, Lennon, two, and Lennon will say ‘it’s good we turn the TV partnerships between nutritional researchers and local new-born Ethan. off Mummy – we shouldn’t watch too much!’ communities. Th eir Trim Tots programme stands to “Th ere was free entertainment, fun games “Th e simple fact is, the lessons we learned, for the kids, and we learnt lots of new and the knowledge I have passed on to friends improve child health dramatically and reduce the things. I particularly enjoyed the cookery and family, has made a big diff erence to our long-term burden of childhood obesity. lessons as I had always tried to make sure lives. We remember our time at Trim Tots both boys had a balanced, healthy diet. with fondness. We never felt pressured or ashamed due to a lack of knowledge Childhood obesity remains one of the UK’s advice, psychological support, “Th e information from Trim Tots opened or being provided with information we most urgent health issues. Despite eff orts education and community engagement, up a world of more home cooking. We didn’t previously have. We felt honoured. to raise awareness and implement clear school children can undergo a clinically- were taught to make Lennon curious and policy, a quarter of children are overweight measurable reduction in weight,” says interested in food, and to let him feel and “Th e Trim Tots programme and support for by the time they reach school age. The Professor Singhal. touch the food. No sooner did Lennon help children and families at this vital age needs current burden on the NHS of obesity- me prepare the dinner, than the following to be widespread. It should be available for Ms Julie Lanigan related illnesses, including heart disease With funding from the Medical Research week he was eating broccoli like it was all parents as they are the building blocks to “An earlier career in catering and diabetes, is estimated at £4.2 billion Council, Sure Start and Great Ormond chocolate! I encouraged Lennon to spread nurturing a generation of health-conscious, inspired a love of food, leading per year – forecast to double by 2050 if Street Hospital Children’s Charity, Professor his own sandwich fi lling and pour the pasta educated young people.” me to study nutrition and no action is taken. Singhal and his team are now rolling out a into the pan etc. I hadn’t even thought of dietetics. As I strove to provide similar programme – Trim Tots – to target it before the Trim Tots team suggested it! a healthy diet for my own growing Professor Atul Singhal and Ms Julie pre-school children. children, I was inspired to look Lanigan have spent the last 10 years deeper into the intriguing developing strategies to improve childhood “We’ve demonstrated the urgent need functions of the ingredients nutrition and prevent obesity. “Our recent for younger children to receive this kind of making up our meals. fi ndings show a child’s early nutritional support,” says Ms Lanigan. “Our challenge intake and lifestyle are crucial in determining now is to deliver the Trim Tots programme “Th e culmination of my clinical whether they go on to develop obesity- so local communities may benefi t, as well and research interests is the related illnesses,” they report. “Between 70 as gather reliable scientifi c data to better development of Trim Tots, and 90 per cent of overweight children have understand some of the risk factors an intervention that aims to the early signs of obesity established by associated with obesity. It can be tricky help families fi nd the path the time they go to school. Over one-fi fth when you consider some toddlers don’t to a healthier lifestyle.” of these children will go on to become want to be weighed or prodded with obese adults. It’s so important for us to callipers to fi nd out their body fat content! Professor Atul Singhal intervene early if we’re going to improve But we’ve come up with fun ways for them “I have always been fascinated the long-term health of these children.” and their families to get involved, as well by science, and nutrition in as learning more about where food particular. From my early work Determined to ensure their work delivers comes from and how to eat healthily.” at the Medical Research Council real and sustainable improvements in (MRC) Sickle Cell Unit in child health, the team has developed Following a successful pilot, Trim Tots Kingston, Jamaica, it became unique models to promote healthy living. will soon be rolling out to centres across clear that many of the clinical These include the MEND (Mind, Exercise, the UK. “We’re lucky to have staff and problems facing children were Nutrition… Do it!) healthy lifestyle programme, families willing to work with us to improve complicated by poor nutrition. a community intervention to promote good children’s long-term health and nutrition,” health developed by Paul Sacher at the says Professor Singhal. “Great Ormond “Over the last 10 years at the UCL Institute of Child Health. Street Hospital’s reputation has been MRC Childhood Nutrition crucial to gaining their trust and support. Centre, we have developed Since its inception, the programme I genuinely don’t think we could have got and tested several interventions has been rolled out in over 400 centres this initiative off to such a successful start in children to reduce the long- worldwide, and benefi ted over 15,000 anywhere else.” term risk of obesity. Th e major families. “MEND has shown us that challenge now is to see if these with the right balance of nutritional are just as eff ective in the real world and can be ‘scaled-up’ to prevent obesity in the wider community.”
22 Research Review 2010 Healthy lifestyles Kidney cures from cancer drugs to citrus fruit More than 40,000 people in the UK require long-term dialysis or transplantation due to failure of their kidneys, and around 1,000 of these are children. Great Ormond Street Hospital is the UK’s largest centre for children with kidney problems. Dr David Long is a scientist, pioneering research to discover the mechanisms of kidney disease and develop new treatments.
Dr David Long Dr Long is committed to finding ways to damage. “We saw that a disruption in “My enthusiasm for kidney help the one in 10 of the hospital’s patients the balance of these proteins was damaging research started during my who require specialist input from its renal the very fine structure of the blood vessels PhD, when I investigated team. As Kidney Research UK Senior in the glomerulus,” explains Dr Long. “What’s normal kidney development and Research Fellow at the UCL Institute of exciting is that there are a number of drugs how this goes wrong in kidney Child Health’s (ICH) Nephro-Urology Unit, already available to control blood vessel disease. Professor Adrian Woolf he works closely with Dr Paul Winyard growth, thanks to research in parallel fields and I discovered that proteins (Reader in Nephrology and Head of Unit) such as cancer and heart disease. Applying called angiopoietins play a and consultants who treat children with this research to the kidney means we can key role in the initiation and kidney disease on a daily basis. begin to target new treatments for patients progression of kidney disease, whose kidney disease is caused by by controlling growth of kidney “With the provision of expert medical damage to the glomerulus.” blood vessels. These studies and supportive care, a majority of children led to the award of a Senior treated by the renal team will grow healthily,” The multi-disciplinary nature of the clinical Fellowship from Kidney Research explains Dr Long. “However, those who and research teams at the hospital and UK to build upon this finding develop progressive kidney disease ICH means that Dr Long is able to explore with my own research team. frequently go on to need dialysis – which several complementary research avenues seriously impacts on their quality of life. at the same time. He and his team are “The challenge for the future is If their kidneys fail, then the children have working on further ways to prevent kidney to convert our basic laboratory to stay on dialysis until a donor kidney is damage by looking at the protective effects findings into new treatments. found. For the majority, this means multiple of naturally-occurring substances such as The close ties between Great and lengthy dialysis sessions in hospital pectin, a type of sugar found in citrus and Ormond Street Hospital and each week, restrictions in their diet, and other fruits. the Nephro-Urology Unit at the a significant impact on their schooling UCL Institute of Child Health and social development.” “We have exciting early data that pectin provide an ideal environment seems to reduce inflammation in the for this, and I am now studying Dr Long’s research focuses on kidneys, lessening the effects of kidney angiopoietins in children with understanding the mechanisms causing damage,” says Dr Long, “though we’ve chronic kidney disease, in childhood kidney disease, with the got some work to do to fully understand collaboration with Drs Rukshana overarching aim of identifying ways to the best doses and biological mechanisms Shroff and Lesley Rees. This is detect disease at an early stage, and involved. The result is another promising particularly important because prevent long-term kidney damage. step towards therapies which might help there is currently no therapy that Specifically, he and his team have been children who currently have no cure for reliably corrects severe kidney investigating the microscopic structures their disease.” problems; hence many patients that filter the blood within the kidney, need either life-long dialysis called the glomeruli. Their focus is to The ICH team is also contributing to further or transplantation. We hope see which biological factors damage clinical studies at the hospital, looking to develop drugs to modify glomeruli and initiate kidney disease, to identify the long-term risk factors for angiopoietins as treatments so that they can work out how such dialysis-related illness. It is hoped that the for both children and adults factors might be blocked. combined efforts in this and the studies with renal disease.” previously mentioned will have a major The team demonstrated that a group of impact on all children being treated for proteins responsible for controlling blood kidney disease in the hospital, throughout From examining thin sections of vessel growth – angiopoietins – play a the UK and, ultimately, across the world. kidney tissue (above) right through crucial part in the progression of kidney to probing the finest microscopic structures of the kidney’s delicate filtering units (below), the research team are revealing new insights into preventing and treating childhood kidney disease. Kidney cures from cancer drugs to citrus fruit Research Review 2010 25 Personalising children’s treatments for arthritis Arthritis is a very real problem for as many as one in 1,000 children in the UK. Looking after these children is a complex issue. Professor Lucy Wedderburn’s research aims to balance the dosage of drugs to reduce pain and swelling, while monitoring children closely to minimise the often debilitating side effects of current treatments for arthritis.
Professor Lucy Wedderburn Professor Wedderburn is aware of the methotrexate, the risk of any relapse is “In children, the immune system extreme challenges children with arthritis as likely following six months of treatment has to frequently fight off new face. “If the condition is not well controlled, as it is after 12. The study also identified infections, without also causing then a typical day for a child with arthritis a protein which acts as a marker for those reactions against the body’s own can start with them feeling pretty run children more likely to relapse after stopping cells or tissues. During my down,” she says. “The pain in their joints the methotrexate medication. The research clinical training I realised that means just getting ready for school can provides evidence for a reduced dosage not much is really known about be difficult. As the day progresses, they period – with a reduction in associated how the immune system controls might experience aching flu-like symptoms side effects – as well as confidence in the balance between fighting throughout their body, due to the release identifying those children in whom it is infection yet staying ‘tolerant’ of disease-signalling molecules called safe to stop the drug. to our own body, and I have cytokines. This means by the end of the worked in this area ever since. day they’re fatigued, and that’s before However, the increasingly urgent challenge they have even taken their medication.” is to determine which children will not “My lab group focuses on what respond to front-line treatment. “We still causes and drives arthritis and Currently the front-line treatment of see many patients each year whose myositis, and in particular, the choice is a drug called methotrexate. disease does not respond to methotrexate,” childhood immune system’s Its side effects can include sickness, loss says Professor Wedderburn. “Less than role in remission, when it is of appetite, and liver damage. For some 20 years ago, children with uncontrolled achieved, and how we can children, it has to be delivered by injection, arthritis might have had to undergo several predict children’s response which can cause both pain and distress. hip replacements before they reached to treatment. Though effective in combating the the age of 25. Thanks to the development symptoms of arthritis in a majority of of new cytokine-blocking drugs, we now “Our future goal of ‘personalised children, around a third of patients do not have to carry out less than a handful of medicine’, where each treatment respond. Despite this, current treatment hip replacements a year across all of our plan will be based on an evidence- protocols require methotrexate to be patients. But we’re still some way from my based set of factors [genes or prescribed before any second or ambition to ensure all these children grow other biological molecules] that third-choice drugs can be trialled. up healthy and disease free.” we can measure, as well as family factors, will allow us to use the “Taking a holistic view of a child’s care Having applied new ‘whole-genome’ available treatments in a more has been crucial to the design of studies screening techniques to the unique targeted way. I hope this will to improve the way we offer treatments for patient group admitted to Great Ormond lead to early remission in a far childhood arthritis,” explains Professor Street Hospital with arthritis, Professor greater number of our patients.” Wedderburn. “With support from Sparks Wedderburn and her team have begun to (Sport Aiding Medical Research for Kids), identify genetic markers which predict how we initiated CHARMS (Childhood Arthritis well children will respond to methotrexate. Response to Medication Study) to evaluate Combining this predictive information with how we might best ensure children receive online tools to provide tailored advice to a more personalised treatment for their parents, the team hope to remain at the condition, without prescribing unnecessary forefront of new developments to further medication which we know may cause personalise arthritis treatments. With suffering, and may even be ineffective support from Great Ormond Street Hospital in some cases.” Children’s Charity, continuing success with this research will allow these children to As Head of the UCL Institute of Child enjoy an active childhood, secure in the Health’s Rheumatology Unit, Professor knowledge that they will have the support Being able to examine individual Wedderburn has recently contributed to they need to grow up healthy into their patients’ responses to treatments via work which has shown that in children teenage and adult years. the latest research is a crucial element of the rheumatology unit’s work to whose arthritis responds well to advance the therapies they offer. Personalising children’s treatments for arthritis Research Review 2010 27 It’s the children who bring us together. They inspire us to gain a better understanding of their difficulties, often with astonishing results.
Maia, age nine, has been in hospital for five weeks and is awaiting a heart transplant. She loves having her mum and dad close by in the Italian Building, and often challenges them to a game of Scrabble. Awards, honours and prizes 2010 Staff from the UCL Institute of Child Health (ICH) and Great Ormond Street Hospital received national and international recognition for their research achievements during 2010.
Professor Myra Bluebond-Langner Professor Anthony Costello was Dr Nigel Hall was awarded a PhD for Dr Chloe Macaulay was presented with was appointed True Colours Trust Chair elected a Fellow of the Academy of his thesis, Necrotising enterocolitis: the an Outstanding Trainee Teaching Award in Palliative Care for Children and Young Medical Sciences. inflammatory response and novel therapies. at the London Specialty School of People, the first professor of paediatric Paediatrics’ annual conference. palliative care in the UK. Professor Carol Dezateux was awarded Professor Peter Hammond and a CBE for services to science. colleagues’ paper, Face-brain asymmetry Dr Juan Pedro Martinez-Barbera was Dr Luisa Boldrin was awarded the 2010 in autism spectrum disorders, was selected awarded the Henning Andersen prize for Dubowitz Prize for her paper, Mature adult Professor Carol Dezateux, Ms Mona as one of the 10 best papers presented the best research abstract submitted to dystrophic mouse muscle environment does Khalid, Dr Rachel Knowles and Ms Juliet on early childhood development in 2008 the 49th European Society for Paediatric not impede efficient engrafted satellite cell Oerton’s research on rare diseases was by the Canadian Centre of Excellence Endocrinology Annual Meeting, Prague regeneration and self-renewal. featured in the Chief Medical Officer for for Early Childhood Development in their 2010, for his paper, Increased Wingless England’s annual report. annual Bulletin. (Wnt) signaling in pituitary progenitor/stem Dr Jennifer Brewin was awarded a PhD cells gives rise to pituitary tumors in mice for her thesis, Generation of EBV-specific Dr Rachel Dobson was awarded a PhD Dr Tom Jacques was invited to join the and humans. He was also awarded the cytotoxic T-cells that are resistant to for her thesis, Tracking endogenous and Biological Studies Group of the Children’s prize for the best research abstract at the calcineurin inhibitors for the treatment of grafted neural progenitor cells in normal Cancer and Leukaemia Group. 38th Meeting of the British Society for post-transplant lymphoproliferative disease. and ischaemic brains using contrast Paediatric Endocrinology and Diabetes, agents and genetic labelling. Dr Ritika Kapoor was awarded a PhD for Manchester 2010. Dr Mattia Calissano was awarded a her thesis, Defining phenotype correlations PhD for his thesis, Regulation of Brn-3b Dr Caroline Fertleman was presented with in children with congenital hyperinsulinism. Dr Margaret Mayston was named as transcription factor by microRNAs: a an Outstanding Consultant Teacher Award Australian Woman of the Year in the possible paradigm for the regulation at Local Level at the London Specialty Dr Yukiko Kimura was awarded a PhD UK, 2010. of essential genes. School of Paediatrics’ annual conference for her thesis, Measurement of glutathione for the development of teaching at the synthesis by isotope ratio mass spectrometry Dr Odette Megnin was awarded a Dr Jonathan Cohen was judged the Whittington Hospital. in systemic inflammation. PhD for her thesis, Electrophysiological winner of the Oral Plenary Prize at correlates of audio-visual integration of the 2010 Medical Research Society Dr Rebecca Forth was awarded a PhD for Dr Panagiotis Kyrtatos was awarded an spoken words in typical development meeting for clinician scientists in training. her thesis, Chemoreceptor renin-angiotensin MB PhD for his thesis, Cell targeting and and autism spectrum disorder. His winning topic was Previous colonisation system activity and the ventilatory response imaging using magnetic nanoparticles. protects against pneumococcal pneumonia: to acute hypoxia, hypercapnia and Dr Francesca Menghi was awarded a learning from natural immunity. He was also exertional hypoxia. Professor David Latchman was awarded PhD for her thesis, Genome-wide analysis awarded a prestigious Pushpa Chopra a CBE for services to higher education. of gene expression and alternative splicing bursary, designed to support the further Professor David Gadian was appointed in human medulloblastomas. research of outstanding individuals. Chairman of the British Chapter of Professor Catherine Law was appointed the International Society for Magnetic to the National Institute for Health Research Dr Halima Moncrieffe won an award Dr Andrew Cook, with Professor Lindsey Resonance in Medicine. College of Senior Investigators. at the Young Investigators Meeting of the Allan and Dr Ian Huggon, won first prize 17th Paediatric Rheumatology European in the 2010 British Medical Association Dr Caroline Godfrey was awarded a Professor Linda Luxon, formerly Head Society Congress, Valencia 2010, for her Medical Book Awards, radiology section, for PhD for her thesis, Refining the genetics of ICH’s Audiological Medicine Unit, was presentation, A novel defect: CD39+ T cells Fetal echocardiography: a practical guide. of muscular dystrophies with defective awarded a CBE for services to medicine. are enriched in the inflamed joint but do glycosylation of dystroglycan. not suppress. Professor Andrew Copp was reappointed Dr Mark Lythgoe was awarded the 2010 Director of the ICH, and was appointed to Davies Medal by the Royal Photographic Dr David Mowatt was awarded an MD for the board of the Bo Hjelt Foundation for Society for a significant contribution in his thesis, An analysis of craniosynostotic Spina Bifida. the digital field of imaging science. osteoprogenitor cells and their potential for bone tissue engineering.
30 Research Review 2010 Awards, honours and prizes 2010 Awards, honours and prizes 2010 Research Review 2010 31 Awards, honours and prizes 2010 Grants and donations 2010 continued The UCL Institute of Child Health and Great Ormond Street Hospital Children's Charity continue to receive grants towards research from the following individuals and organisations:
Dr Irina Papangeli was awarded a Mr Hugh Stevenson, former Treasurer A British Association for Paediatric Nephrology PhD for her thesis, Analysis of pathways of the ICH and Chair of the Child Health Abbott Laboratories British Council affected by loss of Tbx1 in mouse models Research Appeal Trust (CHRAT) Trustees Abbott Nutrition British Heart Foundation of DiGeorge syndrome. Investment Committee, received a The Academy of Medical Sciences British Journal of Anaesthesia knighthood for services to the financial Actelion British Lung Foundation Dr Nina Power was awarded a PhD services industry. Action Duchenne British Skin Foundation for her thesis, Postoperative behaviour Action Medical Research British Society of Audiology changes and pain in children, two Dr Michael Sury was awarded a PhD for Action on Hearing Loss (formerly the Bupa Foundation to 12 years, following inpatient and his thesis, Characterisation of awakening Royal National Institute for Deaf People) Tiggy Butler day-case surgery. from anaesthesia in infants. Malcolm Hardy Addison Age UK C Professor Kathy Pritchard-Jones was Dr Sudhin Thayyil was awarded a PhD The Anatomical Society The C P Charitable Trust conferred the title of Hugh and Catherine for his thesis, Post-mortem MR imaging Angelina Our Star Appeal Cambridge University Hospitals NHS Stevenson Professor of Paediatric Oncology. in foetuses, newborns and children. Annabel McEnery Children’s Cancer Fund Foundation Trust Antisoma Canadian Institutes of Health Research Dr Robert Robinson was awarded an Dr Eliot Ward was awarded a PhD for Arthritis Research UK (formerly Arthritis (formerly Medical Research Council MD(Res) for his thesis, An analysis of his thesis, Novel fusion protein-expressing Research Campaign) of Canada) craniosynostotic osteoprogenitor cells and lentiviral vectors ameliorate collagen Association for International Cancer Cancer Research UK their potential for bone tissue engineering. induced arthritis. Research Canterbury Christ Church University Association Française contre les The CGD Research Trust Professor Peter Scambler was presented Dr Natalie Ward was awarded a PhD for Myopathies The Charles Wolfson Charitable Trust with the inaugural Angelo DiGeorge Medal her thesis, Lentiviral vectors for treatment Association Monégasque contre CHDI at the 7th International 22q11.2 Deletion of haemophilia. les Myopathies Child Growth Foundation Conference, Coventry 2010. Asthma UK Child Health Research Appeal Trust Professor Lucy Wedderburn was elected AstraZeneca CHILDREN with CANCER UK Dr Sérgio de Sousa won the 2010 John to the Paediatric Rheumatology European Autism Speaks (formerly CHILDREN with LEUKAEMIA) M Opitz Young Investigator Award for his Society (PReS) Council as their Scientific AVI BioPharma Children’s Brain Diseases Foundation paper, Nicolaides-Baraitser syndrome: Programme Committee Chair during their (A Batten Disease Resource) delineation of the phenotype. 17th annual congress, Valencia 2010. B Children’s Cancer and Leukaemia Group She was also invited to sit on the Arthritis The Baily Thomas Charitable Fund Children’s Hyperinsulinism Fund Dr Philip Stanier was appointed a Trustee Research UK biomedical sciences panel. Barts and the London Charity Children’s Liver Disease Foundation of the Middlesex Hospital and Medical Batten Disease Family Association The Children’s Research Fund School General Charitable Trust. Dr Paul Winyard was presented with Baxter The Children’s Trust, Tadworth an Outstanding Consultant Teacher Bayer Schering Pharma Cincinnati Children’s Hospital Medical Center A team led by Professor Terence Award at Regional Level at the London Mrs Heather Beckwith Ashton and Tilly Clanfield Stephenson, Professor Ruth Gilbert, Specialty School of Paediatrics’ Annual Becta (formerly British Educational CLEFT Professor Catherine Law, Dr Miranda Conference for the promotion of novel Communications and Technology Agency) CLIC Sargent Wolpert, Professor Helen Roberts and pan-London programmes. BIAL Colgate-Palmolive Professor Russell Viner successfully bid Big Lottery Fund CORDA (Coronary Artery Disease to the National Institute for Health Research Dr Austen Worth was awarded a PhD for Bill & Melinda Gates Foundation Research Association) to establish a Department of Health Policy his thesis, Analysis of the domain specific BioMarin Pharmaceutical Mrs Janet Crawford Research Unit for the Health of Children, function of the Wiskott Aldrich Syndrome Biotechnology and Biological Sciences CREA Young People and Families. Protein, in vitro and in vivo. Research Council Cyberonics Europe Bliss Cystic Fibrosis Trust Bone Cancer Research Trust Cystinosis Foundation British Academy Cystinosis Research Network British Academy of Childhood Disability
32 Research Review 2010 Awards, honours and prizes 2010 Grants and donations 2010 Research Review 2010 33 Grants and donations 2010 continued
D The Shauna Gosling Trust Kids Kidney Research (formerly Newlife Foundation for Disabled Children The Royal College of Surgeons of England U James Datnow Mrs Dorothy Graham The Kidney Research Aid Fund) (formerly Birth Defects Foundation/ Royal National Institute for the Blind UBS Optimus Foundation DebRA (Dystrophic epidermolysis bullosa Great Ormond Street Hospital Kevin Kitching and Sinead O'Shea BDF Newlife) The Royal Society UCB Pharma Research Association) Children’s Charity NHS Blood and Transplant UCL Institute of Child Health/Great Ormond Department for Business, Innovation Mr Hugh Greenwood L NIHR Biomedical Research Centre S Street Hospital NIHR Biomedical Research and Skills Grifols UK Eugène and Stephanie Léouzon for Ophthalmology Samantha Dickson Brain Tumour Trust Centre in Paediatrics Department for Children, Schools The Guide Dogs for the Blind Association Leukaemia and Lymphoma Research NIHR Health Technology The Stanley Sanger Foundation UK Dermatology Clinical Trials Network and Families (formerly Leukaemia Research) Assessment programme Sanofi UK National Screening Committee Department for International Development H The Leverhulme Trust North Bristol NHS Trust Sanofi Pasteur UK Newborn Screening Programme Centre Department of Health Charles and Kaaren Hale The Bernard Lewis Family Charitable Trust North Thames Regional Cleft Lip Santhera Pharmaceuticals The Ulverscroft Foundation Diabetes UK The Health Foundation Lilly and Palate Service Save the Children UNICEF Dimbleby Cancer Care Health Protection Agency Longview Novartis Schroder Foundation United Nations High Commissioner for The Dromintee Trust Healthcare Infection Society (formerly Novo Nordisk Scope International Refugees (The UN Refugee Agency) Duchenne Parent Project Hospital Infection Society) M Nutricia Sense Universität Hamburg Lord and Lady Dundas Heart Research UK Macula Vision Research Foundation Lara Sevanot-Davis University College London Hearts for Kids Trust Fund Macular Disease Society O Shire HGT (Human Genetic Therapies) University College London/University E Heinz Marie Curie Cancer Care Ms Dorothy Oakley SHS International College London Hospitals NIHR Economic and Social Research Council Hestia Foundation The Mary Kitzinger Trust Octapharma Sir Siegmund Warburg’s Voluntary Comprehensive Biomedical Research Centre Eisai Higher Education Funding Council Masimo Olivia Hodson Cancer Fund Settlement University College London Hospitals NHS Elimination of Leukaemia Fund for England Mason Medical Research Foundation The Georg und Emily von Opel Foundation Siemens Foundation Trust Emergency Nutrition Network The Histiocytosis Research Trust Harvey and Allison McGrath Organon Laboratories Ltd Simplyhealth The University of Iowa Engineering and Physical Sciences The Hospital for Sick Children (SickKids) Medical Research Council (MRC) Orphan Europe The Sir Jules Thorn Charitable Trust University of London Research Council Human Early Learning Partnership Medical Research Society The Skeletal Dysplasia Group The University of Manchester Epilepsy Research UK Medtronic P SMA Europe University of Oxford European Commission I MEND Paediatric Rheumatology Discretionary Fund The Society for Pediatric Radiology The University of Sheffield European Respiratory Society Ichthyosis Support Group Meningitis Research Foundation PATH The Sophie Cameron Trust European Society for Immunodeficiencies Imperial College Healthcare NHS Trust Meningitis Trust The Pathological Society of Great Britain Southampton University Hospitals NHS Trust V European Union (formerly Hammersmith Hospital NHS Trust) Merck and Ireland Sparks (Sport Aiding Medical Research Valid International Institute of Education, University of London The Mitchell Charitable Trust Pfizer for Kids) Vitaflo F International Association for the Study MRC Clinical Trials Unit Philips St Peter’s Trust for Kidney, Bladder and Vitol Charitable Foundation Fidelity International of Pain MSS Research Foundation Philips AVENT Prostate Research Fight for Sight Ipsen Limited Mundipharma Physiotherapy Research Foundation Stanford University W Mr and Mrs Fitzpatrick Isis Pharmaceuticals Muscular Dystrophy Association Nick and Miranda Pink Stanley Thomas Johnson Foundation Miss Dorothy Wall La Fondation Genevoise de Bienfaisance Muscular Dystrophy Campaign Primary Immunodeficiency Association Sir Hugh and Lady Stevenson The Walter Swindon Charitable Trust Valeria Rossi di Montelera J Myositis Support Group PTC Therapeutics Summit Mr and Mrs John Walton Fondation Leducq J P Moulton Charitable Foundation Sweets for Life Ltd Mrs Eluned Watkins Food and Agriculture Organization Janssen N Q Swiss National Science Foundation Wellbeing of the United Nations Janssen Biotech, Inc. (formerly Centocor) National Institute for Health and Quintiles Wellbeing of Women Mrs Thelma Fox Jeans for Genes Clinical Excellence T WellChild The Jenner Institute National Institute for Health Research (NIHR) R Takeda Global Research and Wellcome Trust G The Jennifer Trust for Spinal National Institute of Mental Health Raisa Gorbachev Foundation Development Centre Welton Foundation The Gavriel Meir Trust Muscular Atrophy National Institute of Neurological The Rank Prize Funds The Tavistock and Portman NHS Wockhardt UK Généthon Johns Hopkins University Disorders and Stroke (National Institutes Alexandra Raphael and family Foundation Trust World Health Organization Genex Biosystems Joint Information Services Committee of Health) Research Autism Technology Strategy Board Richard Wright Genzyme National Institutes of Health Rho Teenage Cancer Trust Gilead K National Patient Safety Agency RICC (Research into Childhood Cancer) Ms Florence Till Y GlaxoSmithKline The Kay Kendall Leukaemia Fund National Specialised Commissioning Team, Roche Pharmaceuticals Tompkins Foundation Yorkhill Children’s Foundation GlaxoSmithKline Biologicals Kidney Research UK Department of Health Ronald McDonald House Charities The Towergate Charitable Foundation The Gosling Foundation Limited Kids Company The Neuroblastoma Society The Royal Academy of Engineering Trophos The Royal College of Ophthalmologists The True Colours Trust 34 Research Review 2010 Grants and donations 2010 Royal College of Paediatrics and Child Health Grants and donations 2010 Research Review 2010 35 Senior academic staff 2010
Nutritional and Surgical Sciences Theme Cancer Theme Cardiorespiratory Sciences Theme Senior Lecturers Patient Care Research and Louis Dundas Centre for Children's Dr Mike Grocott BSc MBBS MD FRCA FRCP Innovation Centre Palliative Care Theme Leader Theme Leader (from April 2010) Theme Leader Dr Eleanor Main BA PhD Chair of Children’s Nursing Research True Colours Trust Chair in Palliative Professor Alan Lucas MB BChir MA MD Professor Kathy Pritchard-Jones BMBCh Professor John Deanfield MB BChir FRCP Dr Mark Peters MB BCh MRCP and Head of Unit Care for Children and Young People MRCP FRCPCH FMedSci PhD FRCPCH FRCP Dr Suellen Walker MBBS MM(PM) MSc Professor Linda Franck PhD RN RGN (from July 2010) Cardiac Unit FANZA FFPMANZCA RSCN FRCPCH FAAN Professor Myra Bluebond-Langner PhD Nutrition Unit Molecular Haematology and Cancer The British Heart Foundation Vandervell Honorary Senior Lecturers Senior Lecturer Medical Research Council Clinical Biology Unit Professor of Congenital Heart Disease Dr Paul Aurora BSc MBBS MRCP MSc Dr Faith Gibson MSc (Cancer Nursing) Genes, Development and Disease Theme Research Professor and Head of Unit Wellcome Senior Research Fellow and Head of Unit (joint with Cardiac Unit) RSCN RGN CertEd RNT PhD Professor Alan Lucas MB BChir MA MD in Basic Biomedical Science, Reader Professor John Deanfield MB BChir FRCP Dr Robert Bingham MBBS FRCA Honorary Senior Lecturer Theme Leader MRCP FRCPCH FMedSci in Molecular Neurobiology and Head Professor of Cardiothoracic Surgery Dr Ann Black MBBS DRCOG FRCA Dr Debbie Sell SRSLT FRCSLT PhD Professor Peter Scambler BSc MBChB Professor of Biochemistry of Unit Professor Martin Elliott MD FRCS Dr Joe Brierley MBChB MRCP FRCPCH MA FRCPath FMedSci Professor David Muller BSc PhD Dr Jonathan Ham BSc PhD Professor of Cardiology Dr Mike Broadhead MBBS BSc MRCP General and Adolescent Professor of Paediatric Nutrition Hugh and Catherine Stevenson Professor William McKenna BA MD DSc FRCA (joint with Cardiac Unit) Paediatrics Theme Clinical and Molecular Genetics Unit Professor Atul Singhal MB MRCP DCH Chair of Paediatric Oncology FRCP FESC FACC Dr Philip Cunnington MBBS DA FRCA Professor of Clinical and Molecular MRCPCH BS MD (from April 2010) Professor of Cardiovascular Imaging Dr David de Beer BSc MBChB DCH FRCA Theme Leader Genetics and Head of Unit Professor of Anthropology and Professor Kathy Pritchard-Jones BMBCh Professor Andrew Taylor BA(Hons) MD Dr Hilary Glaisyer MBBS MRCP FRCA Professor Terence Stephenson DM Professor Gudrun Moore BA PhD Paediatric Nutrition PhD FRCPCH FRCP MRCP(UK) FRCR Dr Louise Harding MBBS FRCS FRCP FRCPCH Professor in Genetics and Fetal Medicine Professor Jonathan Wells MA MPhil PhD Professor of Paediatric and Reader in Inherited Cardiac Disease Dr Jane Herod BSc MBBS FRCA Professor Lyn Chitty BSc PhD Honorary Professor of UCL Developmental Pathology Dr Perry Elliott MBBS MD MRCP Dr Richard Howard BSc MBChB FRCA General and Adolescent Paediatrics Unit MBBS MRCOG Professor Brian Wharton MD MBA DSc Professor Neil Sabire BSc MBBS Senior Lecturers Dr Elizabeth Jackson BSc MBBS Nuffield Professor of Child Health and Professor of Paediatric Metabolic FRCP(L)(E)(G) FRCPCH DCH DM FRCPath Dr Andrew Cook PhD (British Heart MRCP FRCA Head of Unit Disease and Hepatology Reader in Childhood Nutrition Emeritus Professor of Haematology Foundation Lecturer) Dr Ian James MBChB FRCA (joint Professor Terence Stephenson DM Professor Peter Clayton MD FRCP FRCPCH Dr Mary Fewtrell MD BMBCh FRCPCH and Oncology Dr Pier Lambiase BA PhD MRCP with Cardiac Unit) FRCP FRCPCH Professors of Paediatric Endocrinology MRCP DCH MA Professor Judith Chessells MD Dr Paula Lister MBBCh MPhil FRCPCH Professor of Paediatrics Professor Mehul Dattani MD FRCP Honorary Senior Lecturer FRCP FRCPath Portex Unit of Paediatric Anaesthesia, (joint with Infectious Diseases and (until December 2010) Professor Peter Hindmarsh BSc MB MD Dr Margaret Lawson MSc PhD SRD Visiting Professors of Haematology Pain Research, Critical Care, Respiratory Microbiology Unit) Professor Mark Gardiner MBBCh MD BS FRCP and Oncology Medicine, Physiology and Physiotherapy Dr Adrian Lloyd-Thomas MBBS FRCA FRCPCH FMedSci Professor of Clinical Chemistry Surgery Unit Professor Paul Brickell BA MA PhD Professor of Respiratory Physiology Dr Su Mallory Professor of Paediatric Gastroenterology Professor Simon Heales BSc PhD Nuffield Professor of Paediatric Surgery Professor Ian Hann MD FRCP FRCPath and Head of Unit Dr Richard Martin MBBS FRCA DCHyp Professor Alan Phillips PhD FRCPCH CSci FRCPath and Head of Unit Reader in Paediatric Oncology Professor Janet Stocks PhD FRSM MSBST Emeritus Professor of Child Health Emeritus Professor of Molecular Genetics Professor Agostino Pierro MD FRCS(Eng) Dr John Anderson BA MB BS MRCP PhD Smiths Medical Professor of Anaesthesia Dr Angus McEwan MBChB FRCA Professor Brent Taylor PhD MBChB Professor Susan Malcolm PhD FRCPath FRCS(Ed) FAAP Reader in Cancer Biology and Critical Care Dr Reema Nandi MBBS FRCA, MD FRCP FRACP Emeritus Professor of Honorary Reader Dr Arturo Sala PhD Professor Michael (Monty) Mythen FRCA Dr Kar-Binh Ong BA MBBS FRCA Professor of Adolescent Health Molecular Embryology Dr Andreas Roposch MD MSc Senior Lecturer Emeritus Professor of Dr Andy Petros MBBS MSc FRCP FRCPCH Professor Russell Viner MBBD FRACP Professor Marilyn Monk BSc(Hons) (Epidem) FRCS Dr Mike Hubank BA PhD Paediatric Anaesthesia Dr Christine Pierce MD BSc BBS MRCP FRCPCH FRCP PhD MSc(Hons) PhD Senior Lecturers Walport Lecturer in Paediatric Oncology Professor David Hatch MBBS MRCS LRCP Dr Steve Scuplak Senior Lecturers Emeritus Professor of Paediatric Genetics Dr Paolo de Coppi MD PhD Dr Daniel Morgenstern MB BChir MA FRCA FRCPCH(Hons) Dr Sophie Skellett MA MB BChir Dr Eddie Chung MBChB MRCP Professor Marcus Pembrey BSc MBBS MD Dr Simon Eaton BSc PhD PhD MRCPCH Honorary Reader in Paediatric MRCP FRCPCH Dr Alastair Sutcliffe MD PhD MRCP FRCP FRCPCH FRCOG FMedSci Lecturer Intensive Care Dr Jonathan Smith MBBS BSc(Hons) FRCA FRCPCH PGdipCT Emeritus Professor of Child Health Dr Owen Williams BSc PhD Dr Quen Mok MB BS MRCP MRCPI DCH Dr Mark Thomas BSc MBBChir FRCA Dr Robert Senior BA MSc MBBS MPCPsych and Growth Honorary Reader in Dr Isabeau Walker BSc MBBChir FRCA Honorary Senior Lecturers Professor Michael Preece MD MSc Respiratory Paediatrics Dr Glyn Williams MBBS FRCA MD Dr Deborah Christie DClinPsych FRCP FRCPCH Dr Colin Wallis MBChB FCP(Paed) MD Dr Sally Wilmshurst MBChB(Hons) Dr Haitham Elbashir MBBS FRCPCH Emeritus Professor of Biochemistry DCH FRCP MRCP FRCA DCH MD Professor Bryan Winchester MA PhD Lecturer Dr Sophie Khadr MBChB(Hons) MRCPCH DFSRH FSRH
36 Research Review 2010 Senior academic staff 2010 Senior academic staff 2010 Research Review 2010 37 Senior academic staff 2010 continued
Reader in Paediatric Endocrinology and Medical Molecular Biology Unit Dr Daljit Hothi MBBS MRCPCH MD Infectious Diseases and Microbiology Unit Professor of Paediatrics and Immunology Neurosciences and Mental Health Theme Wellcome Trust Senior Research Fellow Professor of Human Genetics and Mr Geoff Koffman MBChB FRCS Professor of Infectious Disease Professor Bobby Gaspar BSc MB BS MRCP in Clinical Science Head of Unit (joint with Guy’s and St Thomas’ and Immunology and Head of Unit Professor of Paediatric Immunology Theme Leader Dr John Achermann MA MD Professor David Latchman CBE MA PhD NHS Foundation Trust) Professor Nigel Klein BSc MBBS MRCP and Wellcome Trust Senior Fellow Professor Francesco Muntoni MD MRCP MRCPCH DSc FRCPath FRSA Mr Nizam Mamode BSc MBChB MD PhD FRCPCH Professor Adrian Thrasher MB BS PhD FRCPCH FMedSci Reader in Paediatric Endocrinology and Reader in Molecular and Cellular Biology FRCS(Gen) (joint with Guy’s and St Honorary Professor FRCP FRCPath FMedSci Reader in Clinical and Molecular Dr Anastasis Stephanou BSc PhD Thomas' NHS Foundation Trust) Professor Alan Phillips PhD FRCPCH Reader in Paediatric Immunology Behavioural and Brain Sciences Unit Genetics Senior Lecturer Dr Stephen Marks MD MBChB MSc Senior Lecturers Dr Graham Davies MA FRCP FRCPCH Professor of Behavioural Sciences and Dr Maria Bitner-Glindzicz BSc MB BS Dr Ian Giles MBBS PhD MRCP MRCP(UK) DCH FRCPCH Dr Mona Bajaj-Elliott BSc(Hons) PhD Reader in Molecular Biology Head of Unit PhD FRCP Honorary Senior Lecturer Mr Imran Mushtaq MD FRCS Dr Paul Brogan BSc(Hons) MBChB(Hons) Dr Kenth Gustafsson PhD Professor David Skuse MD FRCP Senior Lecturers Dr Richard Knight MD PhD Dr Rukshana Shroff MD MRCPCH PhD MRCPCH MSc PhD (joint with Reader in Molecular Genetics FRCPsych FRCPCH Dr Khalid Hussain MBChB MSc Lecturer Mr John Taylor MD FRCS (joint with Guy’s Rheumatology Unit) Dr Steve Hart BSc MSc PhD Professor of Developmental MRCP MRCPCH Dr Vishwanie Budhram-Mahadeo BSc and St Thomas’ NHS Foundation Trust) Honorary Senior Lecturers Reader in Stem Cell Transplantation Psychopathology Dr Shamima Rahman MA MRCP MBBS PhD MRCP Dr Kjell Tullus MD PhD FRCPCH Professor Judy Breuer MBBS MD FRCPath Dr Paul Veys MBBS FRCP Professor Peter Hobson MA MB BChir PhD MRCPCH PhD Honorary Lecturers Dr Garth Dixon BSc MBChB PhD FRCPath FRCPCH CPsychol FRCPsych Honorary Senior Lecturers Nephro-Urology Unit Ms Eileen Brennan RGN RSCN ENB 147 MRCP FRCPath Senior Lecturers Honorary Senior Lecturers Dr Caroline Brain MB MD FRCP FRCPCH Reader in Nephrology and Head of Unit DMS MSc Professor Diana Gibb MBChB(Hons) Dr Cathy Cale BSc MBChB PhD MRCP Rachel Bryant-Waugh MSc DPhil Dr Maureen Cleary MD MRCP MBChB Dr Paul Winyard BM BCh MA PhD FRCPCH Mr Divyesh Desai MB MChir MRCP MD MSc DipObs FRCPCH (joint MRCPCH MRCPath Margaret DeJong MDCM, FRCPsych(Can) Dr Stephanie Grunewald MD Honorary Professors of Nephrology Dr Sarah Ledermann MRCP with Centre for Paediatric Epidemiology Dr Alison Jones MRCP PhD FRCPsych(UK) Dr Ashok Vellodi FRCP FRCPCH Professor Robert Kleta MD PhD and Biostatistics Unit) Dr Waseem Qasim BMedSci MBBS MRCP Dr Jon Goldin MBBS BSc MBChB DCH Lecturer Professor Adrian Woolf MA MD FRCPCH Infection and Immunity Theme Dr Susan Hall BSc PhD MRCPCH PhD MRCPsych Dr Kevin Mills PhD Emeritus Professors of Dr John Hartley BSc MBBS MSc DTM&H Dr Penny Titman PhD Dr Paramala Santosh MRCPsych MD Paediatric Nephrology Theme Leader MRCP FRCPath Lecturers DipNB(Psych) Molecular Medicine Unit Professor Martin Barratt CBE FRCP Professor Christine Kinnon BSc PhD Dr Marian Malone MB BCh BAO FRCPath Dr Siobhan Burns MB BCh MRCPI PhD Lecturer Professor of Molecular Medicine Professor Michael Dillon FRCP FRCPCH Dr Karyn Moshal MBChB MRCP Dr Paul Turner BMBCh BSc MRCPCH PhD Dr Jonathan Clayden MSc PhD and Head of Unit Reader in Paediatric Nephrology Immunobiology Unit MRCPCH DTM&H Dr Austen Worth PhD Professor Peter Scambler BSc MBChB Dr Lesley Rees MD FRCP FRCPCH Professor of Vaccinology and Dr Vas Novelli FRACP FRCP FRCPCH Developmental Biology Unit FRCPath FMedSci Honorary Readers in Immunology, Director of Clinical Dr Delane Shingadia MBBS MPh Rheumatology Unit Reader in Developmental Neurobiology Professor of Medical and Molecular Paediatric Nephrology Research and Development, and MRCP FRCPCH Professor of Paediatric Rheumatology and Head of Unit Genetics and Wellcome Trust Senior Dr Richard Trompeter FRCP FRCPCH Head of Unit Dr James Soothill MD MBBS FRCPath and Head of Unit Dr Patrizia Ferretti PhD Research Fellow Dr William van’t Hoff BSc MD Professor David Goldblatt MBChB PhD Dr Martin Weber MBChB MD(Res) Dr Lucy Wedderburn BA PhD MBBS Reader in Developmental Biology Professor Philip Beales BSc MD MRCP FRCP FRCPCH FRCP FRCPCH DCH(SA) FRCPath FRCP(UK) MRCPCH FRCP Dr Jane Sowden BA PhD Professor in Molecular Cardiology Honorary Senior Lecturers Professor of Immunology Lecturer Professor of Paediatric Rheumatology Reader in Craniofacial Developmental Professor Paul Riley BSc PhD (from December 2010) Professor Robin Callard BSc MSc PhD Dr Jonathan Cohen PhD and Director of the Centre of Paediatric Biology and Genetics Professor of Computational Biology Dr Detlef Böckenhauer MD PhD DipMath BA(Maths) DSc and Adolescent Rheumatology Dr Philip Stanier BA PhD (joint with Neural Professor Peter Hammond BA PhD Mr Francis Calder MB FRCS (joint with Guy’s Professor of Experimental Immunology Molecular Immunology Unit Professor Patricia Woo CBE MB BS BSc Development Unit) Honorary Professor and St Thomas’ NHS Foundation Trust) Professor Tessa Crompton PhD Professor of Molecular Immunology PhD FRCP FRCPCH FMedSci Honorary Senior Lecturers Professor George Fraser PhD DSc MA MB Mr Abraham Cherian MBBS MS DNB Professor of Paediatric Dermatology and Head of Unit Senior Lecturer Professor Agnès Bloch-Zupan BChD BChir MD FRCP FRCPC FRCS FRCS(Paed Surg) Professor John Harper MD FRCP FRCPCH Professor Christine Kinnon BSc PhD Dr Paul Brogan BSc(Hons) MBChB(Hons) MBiolMedSc Specialist Certificate PhD Senior Lecturer Mr Peter Cuckow FRCS (joint with North Emeritus Professor of Professor of Human Molecular Genetics MRCPCH MSc PhD (joint with Infectious Dr Kanwal Nischal FRCOpth Dr Hannah Mitchison BSc PhD Middlesex University Hospital) Molecular Immunology Professor Robin Ali BSc PhD (joint with Diseases and Microbiology Unit) Lecturer (until September 2010) Mr Patrick Duffy MB FRCS Professor Malcolm Turner DSc(Med) UCL Institute of Ophthalmology) Honorary Senior Lecturer Developmental Cognitive Dr Kate Everett BSc MPhil PhD PgDip Mr Vass Hadjianastassiou DM FEBVS(Vasc PhD FRSC FRCPath Professor of Transplantation Immunology Dr Clarissa Pilkington BSc MBBS Neuroscience Unit Surg) FRCS(Gen Surg) BSc (joint with Guy’s Lecturer Professor Persis Amrolia BSc MBBS MRCP CCST MRCPCH Professor of Developmental Cognitive and St Thomas’ NHS Foundation Trust) Dr Wei-Li Di MBBS PhD MRCPath PhD Lecturer Neuroscience and Head of Unit Dr Bin Gao MMed PhD Professor Faraneh Vargha-Khadem MA PhD
38 Research Review 2010 Senior academic staff 2010 Senior academic staff 2010 Research Review 2010 39 Senior academic staff 2010 continued
Visiting Professor Lecturer Dr Catherine DeVile MA MBBS MD Imaging and Biophysics Unit Emeritus Professor of International Professors of Paediatric Epidemiology Professor Mortimer Mishkin MA PhD Dr Erwin Pauws BSc PhD MRCP MPCPCH Reader in Imaging and Biophysics Child Health Professor Marie-Louise Newell MSc Readers in Developmental Dr Christin Eltze MRCP MSc and Head of Unit Professor Andrew Tomkins MB BS FRCP PhD MFPHM Cognitive Neuroscience Neural Plasticity Unit Mr William Harkness FRCS Dr Christopher Clark MSc PhD FRCPCH FFPHM FMedSci Professor Catherine Peckham CBE MD Dr Torsten Baldeweg MD Chair of Clinical Neurophysiology Dr Cheryl Hemingway MBChB BA(Hons) Rank Professor of Biophysics and Emeritus Professor of Disability FFPHM FRCP FRCPCH FRCPath Dr Michelle de Haan PhD and Head of Unit MMed FCP FRCPCH PhD Chair of Biophysics and International Development FRCOG FMedSci Honorary Senior Lecturers Professor Martin Koltzenburg MD FRCP Dr Isabel Heyman BSc MBBS Professor David Gadian DPhil FMedSci Professor Sheila Wirz MEdFCST PhD Professor in Epidemiology Dr Luc Berthouze BSc Msc PhD Walport Clinical Lecturer in Clinical MRCPsych PhD Professor of Medical Physics Emeritus Professor of International and Public Health Dr Margaret Mayston BSc Msc PhD Neurophysiology Dr Matthew Pitt MD FRCP Professor Andrew Todd-Pokropek PhD Child Health Professor Christine Power BA MSc Dr Peter Rankin BSc Msc DClinPsy Dr Kevin Shields MD PhD MRCP Dr Robert Robinson MA MBBS MRCP (joint with Department of Medical Physics Professor Sally McGregor MB BS MD PhD MFPHM Lecturer Dr Alison Salt MSc DCH FRCAP FRCPCH and Bioengineering, UCL) DPH FRCP Emeritus Professor and Principal Dr Frederique Liegeois BSc MSc PhD Neurosciences Unit Jenefer Sargent MA MBBCh MRCP MSc Honorary Professor of Medical Physics Reader in Global Health Research Fellow Honorary Lecturer Prince of Wales’s Chair in Childhood Dr Patricia Sonksen MD FRCP FRCPCH Professor Isky Gordon FRCR FRCP FRCPCH Dr Sarah Hawkes MB BS PhD Professor Harvey Goldstein BSc PGrad Dip Dr Alexandra Hogan PhD Epilepsy and Head of Unit MBBS DObstRCOG Senior Lecturer Reader and Wellcome Trust Senior FBA PhD(hc) Professor Helen Cross MB ChB PhD Mr Dominic Thompson MBBS Dr Mark Lythgoe PhD Research Fellow Honorary Professors Dubowitz Neuromuscular Centre FRCP FRCPCH BSc FRCS(SN) Honorary Senior Lecturers Dr David Osrin MB BCh MA MRCP Professor Diana Gibb MBChB(Hons) MRCP Professor of Paediatric Neurology Professor of Paediatric Neurosurgery Dr Sophie Varadkar BA MB BCh BAO Dr David Atkinson PhD MRCPCH DTM&H PhD MD MSc Dip Obs FRCPCH (joint with and Head of Unit Professor Richard Hayward FRCS DCH MSc MRCPI Dr Lorenzo Biassoni MD MSc FEBNM Honorary Senior Lecturers Infectious Diseases and Microbiology Unit) Professor Francesco Muntoni MD Professor of Paediatric Neurology Dr Steve White MA DPhil MB BChir Dr Wui Khean Kling Chong MD MRCP FRCR Dr Richard Lansdown MA PhD DipPsych Professor Orly Manor BSc MSc PhD FRCPCH FMedSci Professor Fenella Kirkham MA MB BCh MRCPsych FRCP Professor Richard Iles PhD FBPsS Cpsychol Reader in Epidemiology and Public Health Honorary Professor MRCP FRCP Dr Keiran McHugh DCH FRCR FRCPI Dr Felicity Savage MS BM BCh FRCP Dr Elina Hyppönen MSc MPH PhD Professor Caroline Sewry PhD FRCPath Professor of Childhood Epilepsy Ulverscroft Vision Research Group Dr Dawn Saunders MB MD FRCR Lecturers Professor in Ophthalmic Epidemiology Reader in Cell Biology and Wellcome Professor Brian Neville FRCP FRCPCH Professor in Ophthalmic Epidemiology Lecturers Dr Zelee Hill PhD Professor Jugnoo Rahi MSc PhD FRCOphth Trust University Award Holder (joint with National Centre for Young and Director of the Ulverscroft Vision Dr David Carmichael PhD Dr Audrey Prost PhD Senior Lecturers Dr Jenny Morgan PhD People with Epilepsy) Research Group Dr Jonathan Clayden MSc PhD Dr Andrew Seal PhD Dr Helen Bedford BSc MSc PhD Professor of Paediatric Neuroscience Professor Jugnoo Rahi MSc PhD FRCOphth Dr Patrick Hales PhD Dr Jolene Skordis-Worrall MCom PhD FFPH FRCPCH Neural Development Unit and International Child Health Honorary Professors Dr Martin King PhD Dr Mario Cortina Borja BSc MSc PhD GlaxoWellcome Professor of Professor Charles Newton MB ChB MD Professor Richard Abadi PhD Dr Rodney Scott PhD MRCP Centre for Paediatric Epidemiology Dr Xiayi Ke BSc MSc MSc PhD Developmental Neurobiology, MRCP FRCPCH Professor Tony Moore FRCOphth and Biostatistics Unit Dr Patricia Tookey BA MSc PhD MFPHM Head of Unit and Director of Honorary Professor of Speech Pathology Honorary Reader Population Health Sciences Theme Professor of Paediatric Epidemiology Dr Angie Wade BSc CStat MSc PhD ILTM UCL Institute of Child Health Professor Sheena Reilly BAppSci PhD Miss Isabelle Russell-Eggitt MA FRCS and Head of Unit Honorary Senior Lecturers Professor Andrew Copp MBBS DPhil Honorary Visiting Professor FRCOphth Theme Leader Professor Carol Dezateux CBE MD Dr David Elliman FRCPCH MFPHM FRCPath FMedSci Professor Christopher Gillberg Senior Lecturer Professor Carol Dezateux CBE MD MSc FRCP FRCPCH FFPHM FMedSci Dr Elizabeth Miller BSc MB BS Readers in Developmental Neurobiology Reader in Paediatric Neuroscience Dr Jane Sowden BA PhD MSc FRCP FRCPCH FFPHM FMedSci Professor of Medical Statistics MFPH FRCPath Dr Nick Greene BA PhD Dr Rod Scott MB ChB PhD MRCP MRCPCH Principal Research Fellow Professor Tim Cole BA BPhil MA PhD ScD Dr Angus Nicoll CBE MSc FRCP Dr Andrew Stoker PhD Senior Lecturer Dr Richard Clement PhD BSc Centre for International Health HonFRCPCH FMedSci FFPHM FRCPCH Reader in Neurobiology and Wellcome Dr Vijeya Ganesan MB ChB MD Honorary Senior Lecturers and Development Professor of Clinical Epidemiology Dr Sandy Oliver BA PhD Trust University Award Holder MRCP MRCPCH Dr Kanwal Nischal FRCOpth Professor of International Child Health Professor Ruth Gilbert MSc MD MRCP Lecturers Dr Juan Pedro Martinez-Barbera BA PhD Honorary Senior Lecturers Dr Dorothy Thompson BSc PhD MBCO and Head of Unit Professor of Public Health Dr Marco Geraci MSc PhD Reader in Craniofacial Developmental Dr Sarah Aylett MBBS MRCP FRCPCH Honorary Lecturer Professor Anthony Costello MA MB BChir and Epidemiology (from December 2010) Biology and Genetics Dr Stewart Boyd MD FRCPCH Dr Alki Liasis PhD CPSM FRCP FRCPCH FMedSci Professor Catherine Law OBE MD FRCP Dr Claire Thorne BA MSc PhD Dr Philip Stanier BA PhD (joint with Dr Lucinda Carr MD MBChB DCH FRCPCH Professor in Global Health FRCPCH FFPH Developmental Biology Unit) Dr Hilary Cass BSc FRCP FRCPCH MILT Professor Therese Hesketh MFPHM Senior Lecturers Dr Naomi Dale BA MA PhD CPsychol(BPS) MRCPCH PhD MPH DTM&H DCH Dr Alan Burns BA PhD Dr Carlos de Sousa MBBS BSc MD Dr Thomas Jacques BA MA MB BChir FRCP FRCPCH PhD MRCP
40 Research Review 2010 Senior academic staff 2010 Senior academic staff 2010 Research Review 2010 41 Administration 2010
The Planning and Executive Committee Theme Leader, General The Board of Great Ormond Street Director of Redevelopment of the UCL Institute of Child Health and Adolescent Paediatrics Hospital for Children NHS Trust Mr William McGill MSc Professor Terence Stephenson DM Director of Information Technology Director FRCP FRCPCH Chairman (from January 2009) Mr Mark Large MBCS CITP MCMI Professor Andrew Copp MBBS DPhil Theme Leader, Neurosciences Baroness Tessa Blackstone BSc (Soc) PhD Director of International Patients FRCPath FMedSci and Mental Health Mr Trevor Clarke BSc(Hons) MSc Professor Francesco Muntoni MD Executive Directors Deputy Director, Research and FRCPCH FMedSci Chief Executive Special Trustees for Great Ormond Theme Leader, Genes, Development Theme Leader, Nutritional and Dr Jane Collins MSc FRCP FRCPCH Street Hospital Children’s Charity and Disease Surgical Sciences Deputy Chief Executive/ Professor Peter Scambler BSc MBChB Professor Alan Lucas MB BChir MA MD Chief Operating Officer Chairman of Special Trustees FRCPath FMedSci MRCP FRCPCH FMedSci Ms Fiona Dalton MA (Hons) (Oxon) Mr Alan Hodson Deputy Director, Education and Theme Leader, Population Chief Finance Officer Trustees Theme Leader, Infection and Immunity Health Sciences Mrs Claire Newton MA (Cantab) ACA MCT Ms Gabrielle Abbott Professor Christine Kinnon BSc PhD Professor Carol Dezateux CBE MD MSc Co-Medical Directors Ms Susan Burns Director of Clinical Research FRCP FRCPCH FFPHM FMedSci Dr Barbara Buckley MB BS FRCP FRCPCH Dr Diana Dunston OBE and Development Nuffield Professor of Paediatric Surgery Professor Martin Elliott MB BS MD FRCS Mr Hugo Llewelyn Professor David Goldblatt MB ChB PhD Professor Agostino Pierro MD FRCS (Eng) Mr Robert Evans BSc(Hons) BDS (Hons) Sir Mark Potter FRCP FRCPCH FRCS (Ed) MScD FDSFRCS (Eng) MOrth RCS (Ed) Mr Chris Spratling Director of the Clinical Research Director of the UCL Institute (until August 2010) Associate Trustees Adoptions Committee and Deputy of Global Health Chief Nurse and Director of Education Mr Simon Brewer Director, Clinical Research Professor Anthony Costello MA MB BChir (from June 2010) Mr David Elms MA FCAA and Development FRCP FRCPCH FMedSci Mrs Liz Morgan MSc RN Adult RN Child Mr Simon Stormer Professor Bobby Gaspar BSc MB BS MRCP Institute Manager, UCL Institute of RNT RCNT Dip N IHSM Diploma Mr Michael Weston Theme Leader, Cancer (from April 2010) Child Health Acting Director of Nursing, Education Professor Kathy Pritchard-Jones BMBCh Ms Justine Abbott BA(Hons) MBA MSc and Workforce Development Trustees of the Child Health PhD FRCPCH FRCP Head of Research and Innovation Mrs Janet Williss RN Adult and Child Research Appeal Trust Theme Leader, Dr Lorna Gibson PhD BSc(Hons) MSc Cardiorespiratory Sciences Chief Executive, Great Ormond Street Chairman Professor John Deanfield MB BChir FRCP Hospital for Children NHS Trust Non-Executive Directors Mr Andrew Fane MA FCA Dr Jane Collins MSc MD FRCP FRCPCH Ms Yvonne Brown LLB Solicitor Treasurer Professor Andrew Copp MBBS DPhil Mr Bas Ahsan BSc FCCA FRCPath FMedSci Trustees Mr Andrew Fane MA FCA Mr Tim Clarke BA(Hons) ACA Ms Mary MacLeod OBE MA CQSW DUniv Dr Jane Collins MSc MD FRCP FRCPCH Mr Charles Tilley FCA Professor Andrew Copp MBBS DPhil Associate Non-Executive Director FRCPath FMedSci Ms Dorothea Hackman Professor David Goldblatt MB ChB PhD FRCP FRCPCH Non-Trust Board Members Professor David Latchman CBE MA PhD Director of Clinical Research DSc FRCPath FRSA and Development Mr Andrew Ross MA MBA Professor David Goldblatt MB ChB PhD Professor Sheila Wirz MEd FCST PhD MRCP FRCPCH Secretary Ms Justine Abbott BA(Hons) MBA MSc
42 Research Review 2010 Administration 2010 Administration 2010 Research Review 2010 43 Working with UCL Business PLC (UCLB) UCLB is responsible for the management and exploitation of intellectual property (IP) arising from both the UCL Institute of Child Health (ICH) and Great Ormond Street Hospital (GOSH).
Through IP protection, proof of concept • UCLB evaluated eight new inventions funding, leverage of translational grant arising from ICH and GOSH discoveries. funding and partnership with industry, • UCLB filed two patents: the first on our work with UCLB aims to maximise a marker that predicts response to the positive social, health and economic anti-inflammatory therapies for arthritis benefits of ICH and GOSH discoveries. (Professor Lucy Wedderburn) and Some of the highlights from this review the second on a maternal blood spot period are listed below. screening test for Down’s syndrome • UCLB and the National Centre for (Professor Lyn Chitty and Dr Kevin Mills). Young People with Epilepsy signed a commercialisation agreement For additional information please contact with Special Products Limited in Dr Chris Williams, UCL Business PLC preparation for the marketing of their T 020 7679 9000 buccal midazolam epilepsy treatment E [email protected] as a licensed medicine. This treatment www.uclb.com was developed with Professor Brian Neville and Dr Rod Scott.
Four-year-old Vincent loves his fluffy dressing gown. He is a patient on Elephant Ward, part of our oncology unit, and has recently had a bone marrow transplant, so he is not allowed out of his room for a while. But his dad keeps him busy with games and DVDs. 44 Research Review 2010 Working with UCL Business PLC Zoe, age 17, suffers from hydrocephalus, also known as ‘water on the brain’. Today she is in hospital to have some fluid drained and will hopefully only be in for a few days. She loves her cheeky monkey pyjama bottoms and doing her hair and make-up. Th e child fi rst andalways rst fi e child Th Research 2010 Review
UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust Research Review 2010 [email protected] Design ManagerDesign Hospital Street Ormond Great oor Fourth fl Street 40 Bernard 1LE London WC1N E Bengali English or audio print, Braille large Translations, of this uponversions report available are the above. from address request French disponibles sur demande à Traductions en gros ci-dessus. Des versions l’adresse ou audio sont en braille caractères, également disponibles sur demande. Polish na są do uzyskania Tłumaczenia adresem. powyżej żądanie pod podanym Dokumenty dużym drukiem, w formacie lub audio są także do uzyskaniabrajlem na żądanie. Punjabi Somali qoran ku kor cinwaanka ayaa Turjubaan markii la soo codsado.laga heli karaa fartawaa-wayn, Daabacad far indhoolaha xittaa ayaa ama hab la dhegaysto Braille markii la soo codsado.la heli karaa Tamil Turkish adresten edilirse yukarıdaki Talep edilirse, Talep edilebilir. tedarik çevirileri (görme engelliler için)erle, Braille iri harfl edilebilir. sesli şekilde de tedarik veya Urdu WC1N 3JH WC1N 1EH WC1N Trust Institute
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