Wellcome News 59 (july 2009)

ISSUE 59 JULY 2009

Signing up

Research on deafness and signing sheds light on language processing

Learning curve Wellcome Trust education strategy Sound science The genetics of hearing Bodies of work Anatomical performances

Wellcome News

Editorial

Wellcome News is published four times a year and is available free of charge. To subscribe, contact: Publishing Department Wellcome Trust FREEPOST RLYJ-UJHU-EKHJ Slough SL3 0BP T +44 (0)20 7611 8651 F +44 (0)20 7611 8242 E [email protected] or go to: www.wellcome.ac.uk/wellcomenews We positively encourage letters to the Editor and suggestions for future articles. Please contact: The Editor Wellcome News Wellcome Trust Gibbs Building 215 Euston Road London NW1 2BE E [email protected] Editor Chrissie Giles Writers Craig Brierley, Chrissie Giles, Mun-Keat Looi, Michael Regnier Design Rachael Lightowler, James Stride Assistant Editor Tom Freeman Photography David Sayer Publisher Hugh Blackbourn All images, unless otherwise stated, are from the Wellcome Library. Copies of images can be obtained through Wellcome Images (http://images.wellcome.ac.uk).

The Wellcome Trust is the largest charity in the UK. It funds innovative biomedical research, in the UK and internationally, spending over £600 million each year to support the brightest scientists with the best ideas. The Wellcome Trust supports public debate about biomedical research and its impact on health and wellbeing. www.wellcome.ac.uk This is an open access publication and, with the exception of images and illustrations, the content may, unless otherwise stated, be reproduced free of charge in any format or medium, subject to the following constraints: content must be reproduced accurately; content must not be used in a misleading context; the Wellcome Trust must be attributed as the original author and the title of the document specified in the attribution. The views and opinions expressed by writers within Wellcome News do not necessarily reflect those of the Wellcome Trust or Editor. No responsibility is assumed by the publisher for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions or ideas contained in the material herein. ISSN 1356-9112. First published by the Wellcome Trust, 2009. © The trustee of the Wellcome Trust. The Wellcome Trust is a charity registered in England, no. 210183. Its sole trustee is The Wellcome Trust Limited, a company registered in England, no. 2711000, whose registered office is at 215 Euston Road, London NW1 2BE, UK. PU-4479/13.8K/06-2009/RL Cover: Troi Lee making the BSL sign ‘true’. See page 9.

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This document was printed on material made from 25 per cent post-consumer waste & 25 per cent pre-consumer waste.

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Five years ago, the International Human Genome Sequencing Consortium published its scientific description of the finished human genome sequence, the product of a 13-year effort to read the information encoded in our chromosomes. Science is most often an incremental endeavour, with research building upon previous discoveries, but the sequencing of the human genome is one of the rare examples where a field of study – in this case, human genetics – can be completely transformed by a single advance. With the data freely available on the internet, researchers worldwide have a remarkable resource at their disposal. Comparisons with genomes of other organisms have brought fascinating insights into the extent to which our genes differ from those of the mouse, platypus, wallaby, chimpanzee and many other organisms from different branches of the evolutionary tree. Meanwhile, studies of people from around the world have provided glimpses at the spread of Homo sapiens out of Africa, as well as at more recent human history, such as the genetic legacies of Genghis Khan, the crusaders and colonial migrations. Most importantly, rapid advances have also been made in studies of human biology: over the last few years, the human genome sequence has been used to help to uncover hundreds of genetic factors associated with human variation in health and disease. News stories on Trust-funded research from the last few months alone have reported on genetic links to traits that include infertility through premature ovarian failure, autism, synaesthesia, optimism and obesity. This issue of Wellcome News features the discovery of genetic mutations that can lead to progressive hearing loss in

humans and mice (see pages 12–13). Perhaps the most powerful applications of the use of human genome data have been genome-wide association studies, which take a systematic approach to the search for genes that influence our propensity to common diseases. In 2007, the Wellcome Trust Case Control Consortium – a collaboration that examined 14 000 people with one of seven common disease and 3000 controls – reported the identification of dozens of genetic variants linked to disorders including Crohn’s disease, diabetes and high blood pressure. Subsequent studies have found many other variants linked to human disease; as reported in this issue, these include variants associated with an increased risk of heart disease and variants that confer protection against type 1 diabetes. The Cancer Genome Project at the Wellcome Trust Sanger Institute is also taking a systematic approach to the identification of genetic mutations critical to the development of human cancers, mutations that can also be targets for new drug therapies. For example, the research team recently found mutations in the UTX gene in kidney cancer, melanoma and oesophageal cancer (see page 10). What has also become increasingly clear in the last few years is that the genetic control of our health is extremely complex, so there is still much to be discovered. For many common diseases, we know only a proportion of the genes involved, so the Trust has funded a series of further genome-wide association studies, most recently those investigating anorexia nervosa, pre-eclampsia, Wilms’ tumour (a cancer of the kidney that affects children) and congenital heart disease (see page 7). To help such studies, the Sanger Institute and centres in the USA and China are collaborating on the 1000 Genomes Project – the cataloguing of biomedically relevant DNA variations at a resolution unmatched by current resources. Although genetic research often takes the headlines, studies into the environmental causes of disease are continuing in parallel. Projects such as UK Biobank that aim to bring these two areas together are therefore of crucial importance, as they will help us to understand how environmental and lifestyle factors interact with genetic factors and influence our health.

Sir Mark Walport Director of the Wellcome Trust

In this issue News................................2–4 Funding............................6–7 Research......................10–15 Features Ringing the changes.........5 Watch your language........8 Sound science...............12 In pictures.......................16 Noticeboard.......................17

Find out about the latest boost to research in Kenya and Malawi (top; p. 6), discover genes associated with heart disease (left; p. 10), marvel at our ‘Inexplicable Acts’ (centre; p. 16), explore the genetics of hearing loss (bottom; p. 12), and more…

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News Trust events get under the skin

Music on the brain Big Picture: Music, mind and medicine is out now. This is the latest edition in the Big Picture series, a free post-16 resource for teachers that explores issues around biology and medicine. Grab a copy to unpick the mysteries of music, including how and when humans began making music, the biological reasons for it, and why music is so important for so many of us. To order copies and browse exclusive online content, see www. wellcome.ac.uk/bigpicture. To explore what happens in the brain when we listen to and create music, check out ‘The Nash Ensemble and the Musical Brain’, a project funded by a People Award. Composer Professor Nigel Osborne of the University of Edinburgh will lead a team of international neuroscientists in a programme of lectures, open rehearsals and discussions in the context of concerts by leading chamber music group the Nash Ensemble at Windsor Great Park, Windsor on 14–16 August 2009. www.nashensemblefriends.com

Report puts education into perspective Wax Venus – anatomical figure made in Florence, 1771–1800. Science Museum, London

We have funded several events exploring the beauty and complexity of the human body. This summer, Wellcome Collection will host Exquisite Bodies (30 July–11 October), a display of anatomical models from the 19th century. Highlighting the mixture of serious science and fairground horror that captivated European audiences at the time, it illustrates the interest in empirical knowledge, and the surprising and complex attitudes towards reproduction, disease and death that existed. Wellcome Collection also produced the television series The Operation: Surgery Live, aiming to demystify modern surgery and engage a broader audience in the wonders of

the process. Produced with Channel 4, the programmes gave audiences the chance to ask some of Britain’s top surgeons questions during live operations broadcast from a hospital operating theatre. www.wellcomecollection.org/surgerylive Elsewhere, we are funding Assembling Bodies at the Museum of Archaeology and Anthropology in Cambridge. The exhibition reveals and challenges our preconceived notions of the human body by exploring the different ways that bodies are imagined and understood in the arts and in social and biomedical sciences. maa.cam.ac.uk/assemblingbodies

Wellcome on the web Want more? For even more news and feature articles on Trust activities, see www.wellcome. ac.uk/news, where you can also sign up to our weekly news and features email and subscribe to the RSS feed. All a-twitter If you prefer your news in 140 characters or fewer, follow the Trust on Twitter by going to twitter.com/wellcometrust.

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Check out the other Trust Twitter feeds there by searching for ‘wellcome’. YouTube Among the new videos on our YouTube channel (right; see www.youtube.com/ user/wellcometrust) are Launching the Great Plant Hunt with Sir David Attenborough and Mapping Malaria with Dr Simon Hay (see page 15).

The second issue of Perspectives on Education is now available online. In this issue, three leading experts look at the dips in attitude and attainment that can accompany the transfer from primary to secondary education. They explore the relevance of these issues to school science and the improvements that can be made to enhance support for students. The Perspectives on Education series is designed to provide education professionals with a selection of accessible and authoritative pieces of writing centred on current issues in UK science education, and to stimulate wider discussion and debate on these issues by policy makers, academics and practitioners alike. www.wellcome.ac.uk/perspectives

Showcasing science Funded by a People Award and supported by the University of Kent, the Simon Langton Grammar School in Canterbury has undertaken a two-year project to help to understand the causes of multiple sclerosis. Students conduct genuine experiments, practising skills usually not taught until university. The project will be showcased at the Royal Society Summer Science Exhibition.

Meanwhile, the Channel 4 documentary The Great Sperm Race, part-funded by us, charted the journey of conception scaled up to human size. A scientific review paper summarising the science behind the programme and a web game accompanied the film. www.channel4.com/programmes/ the-great-sperm-race

Historic first for Humboldt Professorship Professor Philip van der Eijk, recipient of a series of major Wellcome Trust history of medicine grants, has been awarded an Alexander von Humboldt Professorship worth €3.5 million (£3.1m). One of the most prestigious European academic prizes, the Humboldt Professorship is awarded to up to ten researchers outside Germany each year, to enable them to carry out a large-scale research project at a German university. A classicist and medical historian based at Newcastle University, Professor van der Eijk is the first-ever successful candidate from the humanities. His ongoing work includes a significant project to translate into English the complete works of Galen, the most significant medical figure of the Roman period.

Professor Philip van der Eijk. David Hargrave

Academy awards A scene from The Great Sperm Race. Channel 4

Darwin200 activities continue Our activities to celebrate the 200th anniversary of Charles Darwin’s birth continue to help thousands of people to engage with the work of the great naturalist. We helped to produce the animation that formed the centrepiece of Sir David Attenborough’s BBC 1 documentary on Darwin’s ‘Tree of Life’. The animation is now available as an interactive at www.wellcometreeoflife.org. Sir David also helped us to launch our educational projects, The Great Plant Hunt and Survival Rivals, which aim to provide a free Darwin-inspired experiment to every child in the country. He delivered a treasure chest from The Great Plant Hunt to St Jude’s C of E Primary School in south London. See the video at www.youtube.com/ wellcometrust. Routes, developed in partnership with

Channel 4, engaged young people with genetics and bioethics using an innovative blend of documentary and drama, supported by online ‘minigames’, blogs and forums. The website has already been visited by 150 000 people and minigames played over 3.5 million times, with the videos and games spreading through online communities such as Bebo, Facebook and Twitter. The ‘Sneeze’ minigame, which demonstrates how sneezing can spread colds and flu, proved particularly popular – and topical – as the first cases of human H1N1 flu emerged and public concern about a potential pandemic grew. The game was featured on the online gaming site Miniclip.com, where it has been played 14m times. www.routesgame.com

Four current Wellcome Trust fellows and a number of past and current recipients of Trust funding are among the 40 leading UK researchers and clinicians who have been elected to the Fellowship of the Academy of Medical Sciences in 2009. Trust Fellows Professors Patrick Chinnery (Newcastle University), William Earnshaw (University of Edinburgh), Vikram Patel (London School of Hygiene and Tropical Medicine) and Peter St George-Hyslop (University of Cambridge) were among the medical scientists elected to the Academy for “outstanding contributions to the advancement of medical science, for innovative application of scientific knowledge or for their conspicuous service to healthcare”. This latest election brings the total number of Fellows of the Academy to 947. The new Fellows were officially welcomed in an admission ceremony at the end of June. For more details, see www.acmedsci.ac.uk/p109.html.

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News Reviewing animals in research

News in brief

Kasayizgi/iStockphoto

Finger on the pulse The Wellcome Trust Monitor is a survey of adults’ and young people’s attitudes, awareness, knowledge and interest regarding biomedical science. It will be carried out in a series of waves, one every three years. The first set of survey findings will be published on our website in early October 2009 and featured in future issues of Wellcome News.

The European Parliament in Brussels. Ziutograf/iStockphoto

The EU Directive that covers the use of animals in scientific research is currently being revised by the European Parliament. The revision aims, among other things, to update and harmonise legislation across the member states, and to allow provisions for the 3Rs: refinement, replacement and reduction of animal use in research. The Parish Report – produced by the Parliament’s Agriculture Committee, which is led by Neil Parish MEP – proposed amendments to the draft Directive, published in November 2008. At the final plenary

session of the Parliament on 4–5 May 2009, the Parliament voted by an overwhelming majority (540 to 66) in favour of the report. Further debate is set to take place following the latest European elections in June 2009. Although the Parish Report addressed some concerns raised by researchers – such as limitations on re-use of animals and constraints on the use of non-human primates – there are still a number of provisions that could ultimately have a negative impact on biomedical research. We hope these will be resolved before the Directive is finalised.

Press pack This year London is hosting the biennial World Conference of Science Journalists, bringing science journalists from all corners of the world to discuss their profession. The programme of events includes a science briefing workshop at the Trust, including a briefing session on ‘Genetics for the 21st Century’, highlighting key Trust research, and a tour of Wellcome Collection.

Open wide

Using patient data The use of patient records in research offers significant potential for improving human health, provided appropriate safeguards are in place. In 2008, we hosted a national consensus meeting with GPs, researchers and patient groups to develop guidance for best practice. A summary, endorsed by the Royal College of General Practitioners and the British Medical Association, is now available to download. www.wellcome.ac.uk/GPrecords

Wellcome Trust-funded researchers can use a new web service, ‘My UKPMC’ (ukpmc.ac.uk/ukmss), to report on the outcomes of grants funded by any of the UK PubMed Central funders, which includes the Trust. Grantholders must make all research papers that we have funded either wholly or in part freely accessible through PubMed Central and UK PubMed Central as soon as possible and, in any event, within six months of publication.

Medical records. Snowleopard1/iStockphoto

Acts of Mercy The Wellcome Library has unveiled its newest acquisitions: Frederick Cayley Robinson’s ‘Acts of Mercy’, four large-scale oil paintings commissioned for the Middlesex Hospital in 1912. At the official launch in April, art historian Richard Cork gave a talk on the paintings, which are now on public display in the Library’s reception. The paintings form two pairs. The first pair, ‘Orphans’, depicts 4 | WellcomeNews | Issue 59

orphan girls being fed in a refectory. The second pair, ‘The Doctor’, shows the exterior of the hospital and some of its patients, including soldiers injured in World War I, awaiting treatment. For more details of the acquisition and installation, see the Library blog: wellcomelibrary.blogspot.com/ search?q=cayley

Richard Cork at the unveiling of ‘Acts of Mercy’.

Ringing the changes Professor Derek Bell, appointed Head of Education at the Trust at the start of 2009, has been instrumental in moves to encourage teachers and pupils to engage with science. Catherine Whitlock talked to him about his past work and future plans in this area. School science education in the UK is changing. Teachers and pupils are finding themselves in the midst of a series of curriculum changes that stem from the desire to make science relevant and applicable to the majority. Professor Derek Bell, the Trust’s Head of Education, is well placed to understand the challenges and opportunities presented by such a transition. He was previously Chief Executive of the Association for Science Education (ASE), and his background in education includes time teaching (first PE, then science) and policy making. Now he is leading the development of the Trust’s education strategy. A key focus of this strategy will be continuous professional development for science teachers. “Attracting teachers into the profession and encouraging them to stay is all about helping them to see what the opportunities are and what the rewards are,” says Professor Bell, who introduced the Chartered Science Teacher status while at the ASE. Changes in the science syllabus need to be matched by well-trained and motivated teachers, he adds. At the ASE, Professor Bell was also involved in setting up the national network of Science Learning Centres, the national coordinating centre of which the Trust funds. At these

centres, teachers and science technicians are kept up to date with the latest developments in science, and can experiment with new ways of teaching the subject. “Part of professional development is making teachers feel valued. It’s about creating an environment where teachers feel they can do what they want to do, and interact effectively with students,” says Professor Bell. But what about developing the science curriculum? Professor Bell thinks that this should be firmly based on research. “There is a need to find out what works in terms of teaching science and how that feeds into policy,” he says. Under his leadership, the Trust looks set to continue to build on its commitment to commissioning meaningful research to help inform education policy. “The documents [produced from this research] should not only influence policy makers but teachers as well,” he says. “We have to get teachers to engage with the research and see that it’s of relevance to them.” The Trust’s latest education report, part of the Perspectives on Education series, covers one of Professor Bell’s concerns: the issues that affect science education as students move from primary school to secondary school; the previous edition focused on the topic of primary science.

Addressing how science is kept alive during the transition from primary to secondary is important, particularly given the decline in numbers of students studying science at A level and beyond. How and why pupils focus in a particular way at a given stage are important considerations. “Doing primary science taught me more about science and doing science than my degree or PhD. Primary science is all about asking questions, finding out and generating curiosity,” he says. With Professor Bell on board, the Trust is set to increase its influence on science education policy, to ensure that the ways of thinking necessary for doing science are encouraged and nurtured, and allowed to develop into a lifelong habit of asking questions and seeking answers. “For the first time there is an explicit recognition that we’re teaching science to all students, the majority of whom aren’t going to do careers in science,” says Professor Bell. “But science has got something to contribute to their broad education and to them as individuals.” For more on the Trust’s Perspectives in Education series, see page 2. View these reports and other education resources at www.wellcome.ac.uk/education.

Career highlights 1970s Taught science, environmental studies and physical education at Christleton High School, Cheshire. Became Head of Biology at The Grange Comprehensive School in Runcorn. 1983 Moved into science teacher education at Liverpool Institute of Higher Education (now Liverpool Hope University). 1996 Director of Graduate Studies and Research at Liverpool Hope University. 1999 Vice Principal at Bishop Grosseteste College in Lincoln. 2002 Chief Executive of the Association for Science Education (ASE). Jan 2009 Appointed Head of Education at the Wellcome Trust. WellcomeNews | Issue 59 | 5

Funding Boost for African research

Children at the KEMRI–Wellcome Trust Research Programme in Kilifi, Kenya. Caroline Penn

Health research in Africa has received an important boost in the form of support for two funding bodies: the Consortium for National Health Research in Kenya will implement grant-giving, while in Malawi, activities will be overseen by the National Research Council of Malawi. The two have been established by the Health Research Capacity Strengthening initiative and are being supported by the UK Department for

International Development (DFID) and us. “Countries need to be able to develop and implement their own research strategies, meeting their own priorities,” said Dr Jimmy Whitworth, Head of International Activities at the Trust. “Through this initiative, we aim to build the capacity of these African countries to make their own grants according to their own needs.” The Kenyan and Malawian bodies will

Support for interdisciplinary research We have launched a new postdoctoral fellowship scheme to promote interdisciplinary science. The Wellcome Trust–Massachusetts Institute of Technology Postdoctoral Fellowships provides four years’ support for recently qualified postdoctoral researchers to gain experience of research at the interface between biology/medicine and mathematics, engineering, or computer, physical or chemical sciences. www.wellcome.ac.uk/mit/wn

Medical Engineering awards In 2008, we and the Engineering and Physical Sciences Research Council launched the Medical Engineering scheme to fund multidisciplinary projects. At time of press, we are funding four projects at a total of £41 million over five years. Each successful bid will result in the creation of a Centre of Excellence in Medical Engineering, each with its own distinct programme of research. www.wellcome.ac.uk/medicalengineering

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receive £10 million each over five years to make awards according to their national research and training priorities. Their aim is to strengthen the capacity of key academic research and health policy-making institutions to generate new scientific knowledge, and improve its use in evidencebased decision making, policy formulation and implementation. www.wellcome.ac.uk/hrcs

Indian tech transfer takes off Our Technology Transfer division has launched an initiative to fund translational research projects that will deliver safe and effective healthcare products for India, and potentially other markets, at affordable costs. Research and Development for Affordable Healthcare in India is a five-year, £30 million project aiming to encourage innovations that extend access to care to the greatest numbers of beneficiaries, without compromising on quality. Any aspect of technology development for healthcare will be considered, including diagnostics, therapeutics, vaccines, medical devices and regenerative medicine. Proposals drawing on the disciplines of the physical sciences, maths and engineering, as well as biomedicine, are equally encouraged. A significant proportion of the programme should be conducted in India, although international collaborations are encouraged, where appropriate. Companies, universities or not-for-profit institutions are eligible to apply. www.wellcome.ac.uk/techtransfer/india

Further funding for gene screens We have funded several new genome-wide association studies, including one exploring the genetic basis of anorexia nervosa. Professor David Collier and colleagues from the Institute of Psychiatry at King’s College London are leading the study, and will analyse over 4000 samples collected by the Genetic Consortium for Anorexia Nervosa. Wilms’ tumour is a cancer of the kidney that affects children. Professor Nazneen Rahman from the Institute of Cancer Research and Professor Peter Donnelly from the University of Oxford have been funded to screen 2000 cases of the tumour, which may help the development of personalised treatments. Dr Linda Morgan from the University of Nottingham and colleagues will test whether the risk of pre-eclampsia is affected by genetic variants in the maternal genome. Screening the genomes of 2225 affected women in the UK, they hope to shed light on the biological pathways behind the pregnancy disorder, which kills some 50 000 women worldwide every year. Also at the University of Nottingham, Dr James Bentham and colleagues will investigate the genetic causes of congenital heart disease. This research may also identify environmental risk factors, which could be used to help to prevent the disease. Illustration of anorexia and self-image. Adrian Cousins

Developing diagnostics We are supporting a number of new projects through our Technology Transfer division. A team led by Professor Maria Cordeiro at University College London has received £1.1 million to conduct an early clinical trial on a novel way to spot early signs of glaucoma. The technique takes advantage of the optical properties of the eye to visualise dying nerve cells directly.

Research resources Dr Louise Kenny from University College Cork and Professor Phil Baker from the University of Manchester have received an award of £556 000 to develop a new test for women at risk of pre-eclampsia. There is currently no accurate screening method available for the condition, a serious disorder that can develop during pregnancy. The team has identified 45 substances in the plasma of women who develop pre-eclampsia, and will conduct a study on 3000 women to narrow these 45 down to those that could form the basis of a reliable test.

Fiona Pragoff

International engagement Several International Engagement Awards are supporting activities in Africa. A Ugandan initiative will pair MPs with researchers to improve communication and evidence-based policy making in the health sector. The Unizul Science Centre in South Africa is joining up with researchers from the Africa Centre for Health and Population Studies to promote better scientific understanding of the issues surrounding HIV/AIDS. The project

will target secondary school children and their teachers in the rural communities of the KwaZulu-Natal region. The KEMRI–Wellcome Trust Research Programme in Nairobi, Kenya, has been funded to conduct a variety of engagement activities based on its maps of malaria and helminth infections. These will include media training for health researchers, workshops for journalists and science cafés.

Our Research Resources in Medical History scheme supports projects to catalogue and preserve history of medicine collections, to ensure that they are available for historians and researchers to use. Grants made recently include: • Dr John Stuart at Kingston University: ‘Creating databases of Victorian children’s hospital patient admissions’. • Colin Gale at Bethlem Royal Hospital Archives and Museum: ‘Conservation of Bethlem and Maudsley hospital discharge summaries (1967–93)’. • Dr Michael Barfoot at the University of Edinburgh: ‘Preserving Edinburgh’s 20thcentury casenotes: treating tuberculosis and World War II injuries’.

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Dr Mairéad MacSweeney and colleagues are conducting research into language processing in the brain, with a focus on deaf people and sign language.

Watch your language Chrissie Giles meets Dr Mairéad MacSweeney, whose research into sign language and the brain is shedding light on how the brain processes language in both hearing and deaf people, as well as highlighting the importance of gaining language skills early in life. Most of us are born into a world of noise, and even before birth the sounds of our mothers’ surroundings filter through to us in utero. But for people born profoundly deaf, there is no sound. They, and their brains, develop in a silent world. How does a brain that never receives auditory input process language, and what impact does deafness have on cognitive development in general? These questions are among those being investigated by Dr Mairéad MacSweeney, a researcher at the Institute of Cognitive Neuroscience, University College London. “Most of what we know about language development comes from studying spoken language,” Dr MacSweeney says. “By looking at sign language we can ask if it’s language per se that’s activating particular brain areas, or if the activation depends on the modality of the language – in other words, whether it’s spoken or signed.” She and her colleagues use brain imaging to investigate which parts of people’s brains are activated as they process language. There is considerable evidence that the brains of deaf people and of hearing people process language in broadly similar ways. 8 | WellcomeNews | Issue 59

For example, Dr MacSweeney and colleagues have shown that deaf native signers (people who use sign language as their first language) recruit the main language centres in the brain – Broca’s area and Wernicke’s area – when they’re watching sign language, just as hearing people do when they watch and listen to someone speaking. There are some differences between the brain activation of the two groups too. Dr MacSweeney explains: “There’s a lot more movement in sign language than in watching someone speak, so the parts of the brain sensitive to movement are more active when you’re watching someone sign than when you’re watching someone speak.” Studies of profoundly deaf people can also shed light on plasticity – the ability of the brain to reorganise its function under changed circumstances. In this case, the researchers are investigating what happens to the auditory cortex (the part of the brain that processes sounds) if it doesn’t receive auditory inputs early in life. They have shown that, in people born profoundly deaf, some parts of the secondary auditory cortex are used to process visual input, including sign language.

Rhyme and reason Although British Sign Language (BSL) and English seem very different, signed languages share key linguistic features with spoken languages (see box). In one study, Dr MacSweeney and colleagues looked at phonological awareness. This is knowledge about the internal structure of a spoken word – for example, knowing that ‘cat’ consists of ‘C-A-T’ and that it rhymes with ‘bat’. Profoundly deaf people can’t rely on hearing words to tell whether they rhyme or not. Dr MacSweeney and colleagues showed pictures of objects to deaf people and asked them to say whether the names of the objects rhymed or not. Surprisingly, the deaf people did better than expected, getting more right than if they had been relying on guesswork. They seemed to use a part of the brain called Broca’s area (involved in speech production) more than hearing people. Why would this be? Well, to test whether words rhyme, hearing people conjure up an ‘auditory image’, something akin to hearing the words in your head. The researchers think that deaf people, unable to do this, instead rely more on the articulatory component (i.e. how you say something).

Broadly speaking, though, the brain seems to process phonology the same way in sign language and spoken language, for native users at least, adding to the evidence that the brain deals with all kinds of language in a very similar way.

In development Dr MacSweeney’s work covers not only the brain pathways involved in processing sign language, but also how being born deaf can affect a person’s development. Some 95 per cent of deaf people are born to hearing parents. This can be a shock to parents, who may have limited experience communicating with deaf people, and little or no knowledge of sign language. Children in this situation may not have full access to sign language and, even with a cochlear implant or hearing aid, won’t be able to access spoken language fully. This can lead to what researchers call impoverished early language exposure. In some circumstances, deaf children might not be fully exposed to sign language until they start school – long after their peers have become fluent in a language. “Language is so critical to everything you do. If you don’t have a good, robust early language then all kinds of other skills are going to suffer as a result,” says Dr MacSweeney. Cochlear implants can help deaf children to gain access to spoken language, and one school of thought suggests that children with cochlear implants should not be taught sign language, in case it ‘conflicts’ with the acquisition of spoken language – something Dr MacSweeney disagrees with. “We know that children can cope in bilingual situations very well,” she says. For her, the use of BSL alongside spoken English is no different from a household where parents speak two different languages to their children. Early diagnosis of deafness can also help children to gain exposure to an accessible language. Steps in the UK have been taken to make this possible. Since March 2006, all babies in the UK have been offered a hearing screen within a few days of birth. Yet there is some evidence that, even after early identification of hearing loss, there can be gaps in the follow-up services provided. The research that led to this policy being introduced, led by Professor Colin Kennedy at the University of Southampton, was funded by the Wellcome Trust. Research suggests that learning a language late can impair a deaf child’s subsequent cognitive development. On average, a deaf 16-year-old leaves school with a reading age of 10–11 years, despite having a non-verbal IQ no lower than average. “Hearing people tend to have around five years’ experience of

Read the signs It is a common misconception that British Sign Language (BSL) is, basically, spoken English with gestures. Lip-reading, reading and writing are all visual derivatives of spoken English, but BSL is, in fact, totally independent of spoken language. Other facts about sign language: • Unlike spoken language, which is expressed audiovisually, sign language is conveyed in a visual–spatial manner, relying on actions of the hands, upper body and face. • Deaf communities around the world use sign languages that are mutually unintelligible – e.g. BSL is used in the UK, while American Sign Language is used in the USA.

• Signed languages share many linguistic features with spoken language, including those related to syntax (the rules for constructing sentences), semantics (the study of meaning) and phonology (the study of speech sounds).

Troi Lee, founder of www.deafrave.com, signing ‘name’ in BSL. He is interviewed in Big Picture: Music, mind and medicine. See www.wellcome.ac.uk/bigpicture.

Research in context Deafness Research UK Chief Executive Vivienne Michael says: “We need a far better understanding of both the effectiveness and the longer-term implications of the various communication choices available to deaf children and their families. Dr MacSweeney’s research is vital in this respect but also fascinating in that it sheds light on the nature of language itself, which could have profound implications for hearing and non-hearing people alike.”

spoken language before they are faced with learning to read that language. Profoundly deaf people don’t. This means that they have very little to map the written language on to – making reading a very difficult task,” says Dr MacSweeney. However, her research shows that learning any language early could boost a child’s ability to read. They found that deaf native signers tend to be better readers than deaf non-native signers, suggesting that learning even a different language (including sign language) before learning to read can help children to read better. Previously supported by a Wellcome Trust Advanced Training Fellowship, Dr MacSweeney is now using her Research Career Development Fellowship to investigate further the link between learning sign language and reading English. She is also

continuing to study the neurobiology of sign language – research that will boost our understanding of how the brain processes language, whether it’s spoken out loud or expressed through actions of the hands and body.

Further reading MacSweeney M et al. The signing brain: the neurobiology of sign language processing. Trends Cogn Sci 2008;12(11):432–40. MacSweeney M et al. Phonological processing in deaf signers and the impact of age of first language acquisition. Neuroimage 2008;40(3):1369–79. Waters D et al. Fingerspelling, signed language, text and picture processing in deaf native signers: the role of the mid-fusiform gyrus. Neuroimage 2007;35(3):1287–302.

Read about Trust-funded work to investigate the genetic causes of deafness on pages 12–13 of this issue.

WellcomeNews | Issue 59 | 9

Research Mutations confer diabetes protection

‘Mind-reading’ with fMRI

caracterdesign/iStockphoto

A woman with diabetes injecting insulin.

Genome-wide association studies have revealed four rare genetic mutations that confer protection against the development of type 1 diabetes. People carrying any one of four variants in a gene called IFIH1 had a decreased risk of developing the disease, in which immune cells attack the pancreas. The nature of the mutations suggests that type 1 diabetes may be caused by a common virus. IFIH1 produces a protein that helps to activate the immune system to fight viruses, specifically a class that includes enterovirus infection, which is commonly found in people newly diagnosed with type 1 diabetes.

The researchers, from the Juvenile Diabetes Research Foundation–Wellcome Trust Diabetes and Inflammation Laboratory in Cambridge, suggest that enterovirus infection prompts IFIH1 to activate the immune system, which may trigger it to attack cells in the pancreas. As the four protective variants affect the function of the IFH1 protein, this might explain how they decrease the risk of developing the disease. For details of other genome-wide association studies we are supporting, see page 7. Nejentsev S et al. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009;324(5925):387–9

Hassabis D et al. Decoding neuronal ensembles in the human hippocampus. Curr Biol 2009;19(7):546–54.

New cancer gene

Genetic links to heart disease Data from the Wellcome Trust Case Control Consortium have helped to uncover ten new genes linked with heart disease. One study identified a gene cluster, SCLC22A3LPAL2-LPA, with a strong link to coronary artery disease. Another study found single nucleotide polymorphisms (single-letter changes in the DNA code) mapping to the MRAS gene that is highly expressed in the cardiovascular system, particularly the heart. A third study identified three variants associated with early heart attacks, including one affecting the gene KCNE2, the mutation of which is known to cause irregular heartbeats. Tregouet D-A et al. Genome-wide haplotype association study identifies the SLC22A3LPAL2-LPA gene cluster as a risk locus for coronary heart disease. Nat Genet 2009;41(3):283–5. Erdmann J et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009;41(3):280–2. Myocardial Infarction Genetics Consortium. Genome-wide association of early onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009;41(3):334–41.

10 | WellcomeNews | Issue 59

It may be possible to ‘read’ a person’s memories just by looking at brain activity, research suggests. Demis Hassabis and Professor Eleanor Maguire from the Wellcome Trust Centre for Neuroimaging at University College London looked at the hippocampus, a region of the brain crucial for navigation, memory recall and imagining future events. Using functional magnetic resonance imaging (fMRI), they examined the activity of hippocampal neurons involved in spatial awareness as volunteers navigated a virtual reality environment. “Surprisingly, just by looking at the brain data we could predict exactly where they were in the virtual reality environment. In other words, we could ‘read’ their spatial memories,” said Professor Maguire.

Melanoma cell dividing. Paul J Smith and Rachel Errington

Mutations in the UTX gene, which regulates the activity of other genes, have been found in many different types of cancer. Researchers on the Cancer Genome Project based at the Wellcome Trust Sanger Institute in Hinxton, Cambridge, found rare mutations in the gene in clear cell renal cancer, while further analysis revealed other UTX mutations in one in ten multiple melanoma cases and one in twelve oesophageal cancer cases. They also demonstrated that they could slow down the growth of cells lacking a functional UTX gene by reintroducing a normal copy. Van Haaften G et al. Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer. Nat Genet 2009;41(5):521–3.

Q&A

So-called ‘disco funerals’ are putting young people in Kenya at risk from HIV infection, says research published in the journal AIDS, which was part-funded by the Trust. Lead author Carolyne Njue (above), completing her PhD at Erasmus MC, Rotterdam, the Netherlands, explains the basis of these events and what she thinks could be done to reduce the risks associated with them. What are disco funerals? Disco funerals are hosted by family members of the deceased to raise funds for funeral expenses. A DJ is hired to play music (often with dancers) and helps to raise funds for the burial through bidding contests. Disco funerals last from several days to up to a fortnight, depending on mortuary and/or transport expenses.

What role do disco funerals play? In Kenya, the number of funerals has increased, partly because of high AIDS mortality. HIV/AIDS has had a significant impact on the funeral rituals of the Luo, for whom attendance at funerals is a cultural obligation. In the past, visitors for funerals were housed around the compound of the

deceased person, and neighbours helped by cooking food for mourners who may have travelled long distances. With frequent AIDS-related deaths, an increasing burden is falling on the bereaved families. Disco funerals, with their fundraising aspects, are seen as very important economically. The phenomenon is spreading across Kenya and is seen in other East African countries. For the Luo, there is a strong cultural link between sex and funerals. However, because of HIV and other sexually transmitted infections (STIs), some of the sexual rituals traditionally associated with funerals are, today, just symbolic. While disco funerals are good for the community – a way to help traditional funeral rituals be carried out – it seems that young people have hijacked the events as a cheap form of entertainment, as well as an opportunity to meet sexual partners.

How did you start studying disco funerals? We were carrying out a study to explore in depth the sexual behaviour of young people in Kisumu, Kenya. The phenomenon of disco funerals kept coming up as an event where young people met their partners or where they first had sex. In the published study, we held indepth interviews with males and females aged 15–20, and made observations during six disco funerals. Of the 150 participants, 44 spontaneously mentioned disco funerals when asked about relationships.

What do you think should be done? I think we need interventions to challenge the risks encountered by young people during these events, including more education around safe sex – the DJs could be effective peer educators. Another approach would be to make condoms freely available at disco funerals, as they are at nearly every other place where people congregate in Kenya. We could also target parents, to communicate with their children about how to protect themselves from the risky situations presented by these events.

What do you do outside of work? I am an avid reader of books and magazines, I enjoy watching documentaries, gardening, exercising, and relaxing with friends and family.

What did you find in your study? Disco funerals were a common occurrence in the study areas. We identified disco funerals as events that place young people

High IQ, longer life?

Lifestyle link to stroke risk

A study of one million Swedish men has found a strong association between low IQ and a higher risk of death from causes such as accidents, coronary heart disease and suicide. Dr David Batty, from the Medical Research Council Social and Public Health Sciences Unit in Glasgow, and colleagues say the link could be partially attributed to healthier behaviours displayed by those who score higher on IQ tests.

Small changes in lifestyle could make a big difference to your chance of having a stroke, researchers in Cambridge have shown. They assessed over 20 000 men and women aged 40–79 living in Norfolk for four positive health behaviours: currently non-smoking, physically active, eating at least five servings of fruit and vegetables per day, and drinking a moderate amount of alcohol. The researchers

Batty GD et al. IQ in early adulthood and mortality by middle age: cohort study of 1 million Swedish men. Epidemiology 2008;20(1):100–9.

at a heightened risk of unsafe sex. There was evidence of casual sex (sometimes with multiple partners), paid-for sex and sexual coercion. Use of drugs and alcohol at the funerals was shown to fuel risky behaviour. We also found that, mostly, people weren’t using condoms at these events. All these factors increase the risk of STIs (including HIV). The circumstances of funeral discos also facilitate risky sexual activity. These events last from several days up to a fortnight and, as people often travel far to attend, can involve long stays in shared accommodation. Often there are not enough sleeping places and little parental supervision was evident.

Njue C et al. Disco funerals: a risk situation for HIV infection among youth in Kisumu, Kenya. AIDS 2009;23(4):505–9.

found that people with none of these health behaviours were over twice as likely to suffer a stroke than those with all four. They conclude: “These results provide further incentive and support for the notion that small differences in lifestyle can have a substantial potential impact on risk.” Myint PK et al. Combined effect of health behaviours and risk of first ever stroke in 20,040 men and women over 11 years’ follow-up in Norfolk cohort of European Prospective Investigation of Cancer (EPIC Norfolk): prospective population study. BMJ 2009;338:b349. chictype/iStockphoto

WellcomeNews | Issue 59 | 11

Scanning electron micrograph of an inner ear hair cell. Dr David Furness

Sound science Progressive hearing loss is a common and debilitating problem, yet relatively little is known about the hundreds of genes thought to be involved. Chrissie Giles spoke to Professor Karen Steel, whose work with mice is shedding light on the complex process of hearing. Headbanger, oblivion, catweasel: not Scandinavian death metal bands, nor the latest celebrity fragrances, but mutant mouse strains that share defects in the sensory hair cells found in their ears. These defects frequently affect the balance and/or hearing of the mice, and research into them can bring new insights into human hearing. Now, we can add to the list of mutant strains diminuendo. This mouse carries a mutation that causes hearing problems, and is the latest mutant to have been identified by Professor Karen Steel at the Wellcome Trust Sanger Institute. Professor Steel has been investigating the genetics of deafness for some 30 years. Her ultimate aim is to help to develop therapies to prevent or minimise the effects of progressive hearing loss, a debilitating and distressing condition that affects around 60 per cent of people over 70.

MicroRNA Unlike all of the other genes implicated in deafness so far, the gene mutated in the diminuendo mouse does not code for a protein, but for a microRNA – a short length of RNA that affects the expression of other genes. A study by a Spanish group, published alongside Professor Steel’s latest paper, has 12 | WellcomeNews | Issue 59

found the same gene is involved in some people with a family history of deafness. As such, the researchers are the first to have identified a disease-causing mutation in the mature sequence of a microRNA. What’s more, the microRNA gene in question is the first ever to be associated with hearing impairment and with an inherited disorder.

The ear’s hair cells are central to hearing. Found in the cochlea in the inner ear, they detect sound vibrations and convert them into electrical signals that trigger auditory nerve activity. The diminuendo mouse is one of many mutants studied by Professor Steel’s team derived from large-scale mutagenesis programmes. “A chemical was used to introduce single base changes into the DNA sequence of sperm precursor cells,” says Professor Steel. Most of these random mutations don’t make a difference to the

organism, but if they occur in coding or controlling regions of DNA, they can have an effect. Researchers then examine the mouse offspring to select those with a desired characteristic, such as deafness or balance defects, and then identify the gene that contains the mutation. Professor Steel’s research also involves mice in which mutations have been made in targeted genes. She has been involved in setting up the large-scale Mouse Genetics Programme at the Sanger Institute, aimed at investigating the function of each gene in the genome. Dr Bill Skarnes at the Sanger Institute is leading a key part of an international effort to ‘knock out’ (block the action of) all genes in the mouse genome, one by one, by manipulating mouse embryonic stem cells to produce mutations in a particular gene. The Mouse Genetics Programme then screens the resulting mice for various diseases and characteristics – from liver function to fertility, and including hearing and balance problems. But why use animal models of hearing at all? Mice are particularly useful because their auditory system is very similar to that of humans, just a bit smaller, and having an animal model allows researchers to explore the impact of a mutation on the function of the ear. “Having a mouse model allows us to examine the development of the deafness, and the molecular and cellular processes involved, giving us insight into the early stages of the progressive loss of hearing, something that is not possible in humans,” says Professor Steel. “Furthermore, we can alter the genes of a mouse to introduce the equivalent mutations found in humans, meaning that researchers can look at precisely

how a mutation affects the development of the ear’s anatomy and function.”

Hair trigger The ear’s sensory receptors, hair cells, are central to hearing. Found in the part of the inner ear called the cochlea, the hair cells detect the tiny vibrations of sound and convert them into electrical signals that trigger activity in auditory nerves. Without hair cells there is no hearing, and mammalian hair cells are not replaced after birth. Does this mean that degeneration of hair cells is a major cause of deafness, or just something that happens alongside hearing loss? “I’ve never found a mouse mutant where hair-cell degeneration is the direct cause of deafness,” says Professor Steel. “There’s always some pre-existing problem with the hair cells.” The diminuendo findings published recently (see further reading below) reinforce the idea that abnormal hair cells can be associated with hearing impairment. Professor Steel and colleagues showed that the mutation caused mice to be born with malformed hair bundles – the regular arrays of hair-like projections from the top of the hair cells that are essential for detecting vibrations, like grasses bending in the wind. “If the mice carried one copy

Of mice and men ‘Dancing mice’ have fascinated people for centuries. These mutant mice are similar to some of those studied by Professor Steel, except that they come from the wild, and are affected by spontaneously occurring mutations in genes linked to balance and/or hearing. The ‘dancing’ refers to the animals’ strange movement (often including head-bobbing and circling) and was reflected in the names given to these mice many years ago by breeders – including ‘Dancer’, ‘Pirouette’ and ‘Waltzer’. Fascination with these and other mutant mice blossomed in the 18th and 19th centuries with the ‘mouse fancy’, where people bred mice for their interesting appearance and characteristics. Many of the hundreds of mutant mouse strains that are being studied by scientists today originated from those bred as part of the mouse fancy.

damage can be halted by modulating their activity. Little by little, the work of Professor Steel and colleagues is increasing our understanding of the genetic basis of one of our most vital and complex senses, hearing. And with the recent publications on the diminuendo mouse and similar mutations in humans, the researchers have identified the first ever microRNA involved in an inherited disorder or human disease, opening the question of just how many other human

conditions and diseases are affected by these tiny pieces of RNA.

Further reading Mencía A et al. Mutations in the seed region of human miR-96 are responsible for non-syndromic progressive hearing loss. Nat Genet 2009;41(5):609–13. Lewis M et al. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 2009;41(5):614–8. For more information on Professor Steel’s work see www.sanger.ac.uk/Teams/Team27/.

“A mouse model allows us to examine the development of deafness, and the molecular and cellular processes involved…something not possible in humans” of the gene variant they suffered progressive hearing loss; if they carried two they were profoundly deaf,” says Professor Steel. The team mapped the diminuendo mutation to chromosome 6, and found it was in a gene encoding a microRNA called miR-96. These short pieces of RNA, around 22 nucleotides in length, are thought to bind to specific sequences in mRNA (messenger RNA) from protein-coding genes and degrade the message. This, in turn, reduces the amount of the corresponding protein produced. The diminuendo mutation was seen to alter the expression of hundreds of different mRNAs – just under 100 significantly. Of these, the researchers identified five genes that they think could individually be responsible for hearing impairment in the mice. They are now following these genes to discover whether they are indeed causing the damage to the hair cells and whether this

Professor Karen Steel, who has recently been elected to the Fellowship of the Royal Society.

Turn to pages 8–9 of this issue to read about research exploring how the human brain processes sign language.

WellcomeNews | Issue 59 | 13

Research Round-up After-dinner sex? The best time to hit on a female is after dinner, as far as male bedbugs are concerned. Research shows that female bedbugs, enlarged after gorging on a meal and less able to resist mating attempts, attract three times as many mates as normal-sized females. Reinhardt K et al. Evolution 2009;63(1):29–39.

Growing up A study of over 3500 people in Finland has shed further light on the genetic factors influencing height over our lifespan. Of 48 genetic variants associated with adult height, seven were also associated with peak height at infancy, and five with peak height at puberty. Sovio U et al. PLoS Genet 2009;5(3):e1000409.

N. meningitidis bacteria (yellow) inside human cells. Shao Jin Ong

Researchers uncloak microbes in disguise Studies have shed new light on how HIV and the bacterium that causes meningitis evade our immune system. Scientists from the University of Oxford and Imperial College London have discovered how Neisseria meningitidis, which is responsible for bacterial meningitis, mimics human cells to evade the immune system. They found that a protein in the outer coat of N. meningitidis enables it to bind to factor H, a molecule that circulates in the blood and normally only binds to our own cells, protecting them from our immune response. A separate study has found a correlation between certain genes for human leukocyte

antigens (HLAs) and particular mutations in HIV. HLAs differ from person to person and help our immune system to recognise and kill infected cells. Certain mutations in HIV enable the virus to evade this immune response. The study found that the more common an HLA gene is in a population, the higher the frequency of matching HIV mutations. Furthermore, the mutations can be passed onto others, even if their HLA genes differ. Schneider MC et al. Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates. Nature 2009;458(7240):890–3. Kawashima Y et al. Adaptation of HIV-1 to HLA I. Nature 2009;458(7238):641–5.

Paperboat/iStockphoto

Cancer sign Researchers have identified a biomarker ‘signature’ that could help to detect oral cancer, the eighth most common cancer worldwide, from blood samples. If detected early enough, the survival rate from oral cancer is better than 90 per cent. Tiziani S et al. Neoplasia 2009;11(3):269–76.

In a flap Research at the Royal Veterinary College shows that the flapping style of slowflying animals, including dragonflies and mayflies, is highly inefficient. While a helicopter blade arrangement would be best for hovering, flapping may confer better speed and manoeuvrability. Author Dr Jim Usherwood proposes that aerodynamics are constrained by the energy needed to power each wing as it starts and stops with every flap. Usherwood JR. Bioinspir Biomim 2009;4(1):15003.

Dragonfly. David Atkins, Structure and Motion Lab, RVC

14 | WellcomeNews | Issue 59

A bug’s life Every year, Salmonella bacteria cause some 1.3 billion cases of diarrhoea and typhoid fever in people across the world. The bacteria establish infections by invading host cells and growing inside them. To create a niche in which they can thrive, the bacteria deliver a cocktail of ‘effector’ proteins that target host proteins to take control of key processes within the cell. Using a mutant effector protein, a team led by Professor Vassilis Koronakis at the University of Cambridge identified one of the host-cell targets as valosin-containing protein, which plays a part in building host-cell organelles. The researchers think that by controlling interactions involving this protein, the bacteria ensure an ideal environment in which to replicate. Understanding how bacteria take over cells could ultimately lead to new targets to fight bacterial disease. Professor Koronakis and colleagues have also recently published the complete structure of an ‘efflux pump’, which Salmonella and other Gram-negative bacteria use to rid themselves of potentially harmful substances, including antibiotics and other drugs. Knowing the structure of these pumps could help scientists to develop new ways to overcome antibiotic resistance.

Salmonella (red) establishing its niche (green) in a human cell. Vassilis Koronakis Humphreys D et al. The Salmonella effector SptP dephosphorylates host AAA+ ATPase VCP to promote development of its intracellular replicative niche. Cell Host Microbe 2009;5(3):225–33. Symmons M et al. The assembled structure of a complete tripartite bacterial multidrug efflux pump. Proc Natl Acad Sci USA 2009;106(17):7173–8.

TB vaccine continues in clinical trials

Guide to combat fake drugs

A new vaccine against tuberculosis (TB) – the most advanced of a new generation under development – has entered the next stage of clinical trials in South Africa. The MVA85A/ AERAS-485 vaccine is designed to augment the body’s immune response to BCG, the only available TB vaccine, which is given during childhood. The phase IIb trial, conducted by the South African Tuberculosis Vaccine Initiative of the University of Cape Town and involving 2750 children, will evaluate the vaccine’s safety and effectiveness. “We believe this is the most exciting advance in the field of TB vaccines for over 80 years,” said Dr Helen McShane of the Jenner Institute, University of Oxford, who first developed the vaccine.

An international panel of drug quality experts has developed guidelines to help to assess the quality of medicines and combat counterfeit drugs. These will help research groups to study and report the prevalence of fake and poor-quality drugs, and indicate where such drugs are commonly available. “Ensuring that essential medicines are of good quality is as important as ensuring that they are available. We hope that this field will attract the interest and support it deserves, and that the recommendations made here will evolve substantially,” said Dr Paul Newton from the Wellcome Trust– Mahosot Hospital–Oxford University Tropical Medicine Research Collaboration in Laos.

Meanwhile, research in Lima, Peru, has shown that installing simple ultraviolet C lights in hospital wards could reduce the spread of TB, including drug-resistant strains, by as much as 70 per cent. In the study, guinea pigs received air from a TB ward that either was untreated or had been exposed to the ultraviolet lights. Tests revealed that just 9 per cent of the ultraviolet guinea pig group were subsequently infected, compared with 35 per cent of the untreated air group. The low-cost measure could have significant benefits in developing countries, which suffer the highest burden of the disease. Escombe AR et al. Upper-room ultraviolet light and negative air ionization to prevent tuberculosis transmission. PLoS Med 2009;6(3):e1000043.

Newton PN et al. Guidelines for field surveys of the quality of medicines: a proposal. PLoS Med 2009;6(3):e1000052.

Mapping malaria The most detailed map ever created of malaria

malaria in many countries is technically

there will remain a great and long-term

risk worldwide has been assembled by an

feasible. But it also presents us with a blunt

challenge.”

international team, led by researchers

truth: that the burden facing the people of

at the Kenya Medical Research Institute–

Africa is very high and that tackling malaria

A separate study found that artesunate– mefloquine, the recommended first treatment for falciparum malaria, remains effective along

Wellcome Trust Research Programme.

the Thai–Myanmar border. But after 13 years

The Malaria Atlas Project shows that 2.4 billion people are at risk from Plasmodium

of widespread use, there has been a rise in the

falciparum (the most deadly form of malaria),

time the artemisinin combination therapy

although three-quarters of them live in areas

needs to clear the parasite from the body.

where risk is considered very low and the Hay SI et al. A world malaria map: Plasmodium falciparum endemicity in 2007. PLoS Med 2009;6(3):e48.

technical obstacles to malaria control are relatively small. However, almost all of those

Carrara VI et al. Changes in the treatment responses to artesunate-mefloquine on the northwestern border of Thailand during 13 years of continuous deployment. PLoS ONE 2009;4(2):e4551.

in areas of high transmission live in subSaharan Africa, where the disease, death and disability burdens from falciparum malaria

Map showing malaria risk in Africa in 2007. From Hay et al. Licensed to the Malaria Atlas Project (MAP; for archives of national maps see www.map.ox.ac.uk/data/) under a Creative Commons Attribution 3.0 License

remain high. Dr Simon Hay, who manages the project, said: “This map gives us hope that eliminating

What’s hot on www.wellcome.ac.uk/news Autism Scientists have identified a gene thought to play a major role in autism spectrum disorders, a finding that could help in the development of improved diagnostics for such conditions. ‘Treating’ homosexuality A significant minority of psychiatrists and therapists are still attempting to help lesbian, gay and bisexual clients become heterosexual, despite lack of evidence that such ‘treatment’ is beneficial or even safe.

Peanut allergy Severe peanut allergy has been treated successfully for the first time by researchers who used peanut flour to help children build up tolerance. Infertility The hormone kisspeptin can raise the level of sex hormones in women with normal reproductive function. Now, researchers have shown the same effect in women with hypothalamic amenorrhoea, a common cause of infertility.

Sheep history Scientists have used the vestiges of ancient retroviruses to unravel the history of sheep domestication, confirming the idea that breeding of sheep for wool began in southwest Asia around 11 000 years ago. For daily news stories, plus features, videos and audio clips, see: www.wellcome.ac.uk/news

WellcomeNews | Issue 59 | 15

In pictures The circus came to Wellcome Collection in a series of jaw-dropping events. Over 300 people attended ‘Inexplicable Acts’, with experts revealing the science behind the anatomical wonders of contortion, the physiological secrets of sword-swallowing, and how the brain controls hand–eye coordination when juggling in pitch darkness. Watch videos about the events at www.youtube.com/user/wellcometrust. Contortionist Delia du Sol (below and centre right), sword-swallower Dan Meyer (top right) and ‘Feeding the Fish’ juggling with self-illuminating clubs (bottom right).

16 | WellcomeNews | Issue 58

Contribute your biomedical images to our collection Wellcome Images holds an unrivalled collection of over 40 000 biomedical and clinical images. We are always looking for new high-quality biomedical images from scientific researchers, clinical photographers and artists in any field of science or medicine. Contributors to our collection receive commission and full credit when their images are used, while retaining their original material and copyright. To find out more, visit images.wellcome.ac.uk or contact Laura Pastorelli: T +44 (0)20 7611 8347 E [email protected]

Clockwise from top left: villi in the colon (Paul Appleton); chromosomes in human HeLa cancer cells (Iain M Porter/University of Dundee); taste bud (MI Walker); embryonic kidney cells (Lydia Michael and Linda Sharp).

Courses, conferences and workshops August 2009

October

25–28 Applied Bioinformatics and Public Health Microbiology Wellcome Trust Conference GC

7–10 Integrative Approaches to
 Brain Complexity Wellcome Trust–Cold Spring Harbor meeting GC

September 2–6 Mouse Genetics and Genomics: Development and disease Wellcome Trust–Cold Spring Harbor meeting GC 9–12 Evolution of Brain, Behaviour and Intelligence Wellcome Trust Conference GC Cells in the cerebellum. D Rossi, W Hinkes, D Attwell

GC: Event takes place at the Wellcome Trust Genome Campus, Hinxton, Cambs. For information on Wellcome Trust Conferences, see www.wellcome.ac.uk/ conferences. For information on Advanced Courses and Open door Workshops, see www.wellcome.ac.uk/advancedcourses.

23–26 Genomics of Common Diseases Wellcome Trust–Nature Genetics Conference GC 28–2 Oct Design and Analysis of Geneticbased Association Studies Advanced Course GC

12–15 Working with the Human Genome Sequence Workshop in Bangkok, Thailand 14–16 Engineering Principles in Biological Systems Wellcome Trust–Cold Spring Harbor meeting GC 26–8 Nov Genetic Manipulation of ES Cells Advanced Course GC

November 9–13 Proteomics Bioinformatics Workshop GC

WellcomeNews | Issue 59 | 17

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