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ISSUE 59
 
JULY 2009
Learning curve
Wellcome Trusteducation strategy
Sound science
The geneticsof hearing
Bodies o work
 Anatomicalperformances
Research on deafnessand signing sheds lighton language processing
 
Signing up
 
Five years ago, the International HumanGenome Sequencing Consortium publishedits scientic description of the nishedhuman genome sequence, the product of a 13-year effort to read the informationencoded in our chromosomes. Science ismost often an incremental endeavour, withresearch building upon previous discoveries,but the sequencing of the human genomeis one of the rare examples where a eld of study – in this case, human genetics – can becompletely transformed by a single advance.With the data freely available on theinternet, researchers worldwide have aremarkable resource at their disposal.Comparisons with genomes of otherorganisms have brought fascinating insightsinto the extent to which our genes differfrom those of the mouse, platypus, wallaby,chimpanzee and many other organisms fromdifferent branches of the evolutionary tree.Meanwhile, studies of people from around theworld have provided glimpses at the spread of 
 Homo sapiens
out of Africa, as well as at morerecent human history, such as the geneticlegacies of Genghis Khan, the crusaders andcolonial migrations.Most importantly, rapid advances havealso been made in studies of human biology:over the last few years, the human genomesequence has been used to help to uncoverhundreds of genetic factors associated withhuman variation in health and disease.News stories on Trust-funded research fromthe last few months alone have reported ongenetic links to traits that include infertilitythrough premature ovarian failure, autism,synaesthesia, optimism and obesity. Thisissue of 
Wellcome News
features thediscovery of genetic mutations thatcan lead to progressive hearing loss inhumans and mice (see pages 12–13).Perhaps the most powerful applicationsof the use of human genome data have beengenome-wide association studies, which takea systematic approach to the search for genesthat inuence our propensity to commondiseases. In 2007, the Wellcome Trust CaseControl Consortium – a collaboration thatexamined 14 000 people with one of sevencommon disease and 3000 controls – reportedthe identication of dozens of geneticvariants linked to disorders including Crohn’sdisease, diabetes and high blood pressure.Subsequent studies have found many othervariants linked to human disease; as reportedin this issue, these include variants associatedwith an increased risk of heart disease andvariants that confer protection against type 1diabetes.The Cancer Genome Project at theWellcome Trust Sanger Institute is also takinga systematic approach to the identication of genetic mutations critical to the developmentof human cancers, mutations that can also betargets for new drug therapies. For example,the research team recently found mutationsin the
UTX 
gene in kidney cancer, melanomaand oesophageal cancer (see page 10).What has also become increasingly clear inthe last few years is that the genetic controlof our health is extremely complex, so thereis still much to be discovered. For manycommon diseases, we know only a proportionof the genes involved, so the Trust has fundeda series of further genome-wide associationstudies, most recently those investigatinganorexia nervosa, pre-eclampsia, Wilms’tumour (a cancer of the kidney that affectschildren) and congenital heart disease (seepage 7). To help such studies, the SangerInstitute and centres in the USA and China arecollaborating on the 1000 Genomes Project– the cataloguing of biomedically relevantDNA variations at a resolution unmatched bycurrent resources.Although genetic research often takes theheadlines, studies into the environmentalcauses of disease are continuing in parallel.Projects such as UK Biobank that aim tobring these two areas together are thereforeof crucial importance, as they will help us tounderstand how environmental and lifestylefactors interact with genetic factors andinuence our health.
Wellcome
News | Issue 59
Sir Mark WalportDirector o the Wellcome Trust
Wellcome News
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Writers
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Design
Rachael Lightowler, James Stride
 Assistant Editor
Tom Freeman
Photography
David Sayer
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Hugh Blackbourn
 All images, unless otherwise stated, are romthe Wellcome Library. Copies o images canbe obtained through Wellcome Images(http://images.wellcome.ac.uk).
 The Wellcome Trust is the largest charity in the UK.It unds innovative biomedical research, in the UKand internationally, spending over £600 million eachyear to support the brightest scientists with the bestideas. The Wellcome Trust supports public debateabout biomedical research and its impact on healthand wellbeing.
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 This is an open access publication and, with theexception o images and illustrations, the contentmay, unless otherwise stated, be reproduced reeo charge in any ormat or medium, subject to theollowing constraints: content must be reproducedaccurately; content must not be used in amisleading context; the Wellcome Trust must beattributed as the original author and the title o thedocument specied in the attribution. The viewsand opinions expressed by writers within
WellcomeNews
do not necessarily refect those o theWellcome Trust or Editor. No responsibility isassumed by the publisher or any injury and/ordamage to persons or property as a matter o products liability, negligence or otherwise, or romany use or operation o any methods, products,instructions or ideas contained in the materialherein. ISSN 1356-9112. First published by theWellcome Trust, 2009. © The trustee o theWellcome Trust. The Wellcome Trust is a charityregistered in England, no. 210183. Its sole trustee is The Wellcome Trust Limited, a company registeredin England, no. 2711000, whose registered oce isat 215 Euston Road, London NW1 2BE, UK.
PU-4479/13.8K/06-2009/RLCover: Troi Lee making the BSL sign ‘true’. See page 9.
Editorial
 This document was printed on materialmade rom 25 per cent post-consumer waste & 25 per cent pre-consumer waste. 
50%
 
Wellcome
News | Issue 59
In this issueFind out about the latestboost to research in
Kenyaand Malawi
(top; p. 6),discover
genes associatedwith heart disease
 (let; p. 10), marvel at our
‘Inexplicable Acts’
 (centre; p. 16), explorethe
genetics ohearing loss
 (bottom; p. 12),and more…News ...............................2–4Funding ...........................6–7Research .....................10–15FeaturesRinging the changes ........5Watch your language .......8Sound science...............12In pictures ......................16Noticeboard ......................17
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