Senior researcher awarded British Heart Foundation Chair award
Professor Shoumo Bhattacharya, from the Wellcome Trust Centre for Human Genetics at the University of Oxford – a BHF Centre of Research Excellence – has been awarded the BHF Chair of Cardiovascular Medicine. Prof Bhattacharya’s cutting-edge research aims to decipher the genetic causes and contributors to congenital heart defects and heart failure. He also investigates how genes and environmental exposures interact to alter our risk of these diseases.
Professor Bhattacharya's appointment progresses the heart charity’s vision of ensuring the UK is in the top-flight of global research efforts to fight cardiovascular disease today, and securing the future with a commitment to training young scientists.
BHF Chairs are awarded by the charity – in partnership with the individual’s University, who provide supporting posts, equipment, and lab space – to outstanding individuals at the top of their field with the ability to offer scientific and strategic leadership at an internationally competitive level.
The awards offer financial and infrastructure support for 10 years, subject to a five-year detailed review of progress. After 10 years, the Universities must pick-up Chairs' salaries while the BHF continue to fund their research as long as it meets their stringent quality and value benchmarks.
New fellows are elected to the Academy of Medical Sciences
Four Oxford University researchers have been elected as Fellows of the Academy of Medical Sciences, recognising their excellence in medical science.
The new Fellows include Professor Keith Channon and Professor Ian Tomlinson from the Wellcome Trust Centre for Human Genetics (WTCHG). Academy Fellows are elected for outstanding contributions to the advancement of medical science, for innovative application of scientific knowledge and conspicuous service to healthcare.
Professor Sir John Bell, President of the Academy of Medical Sciences said, ‘Our new Fellows illustrate the wealth of experience and diversity of talent amongst the UK’s research community. Changes in global financial markets, and the promise of medical research to deliver both benefits to health and economic growth, mean it is more important than ever that these assets are recognised and supported.’
Professor Keith Channon is Professor of Cardiovascular Medicine, with a large research group at the WTCHG, Honorary Consultant Cardiologist at the John Radcliffe Hospital, and director of the Oxford comprehensive Biomedical Research Centre (OxBRC), a partnership between the Oxford Radcliffe Hospitals and the University of Oxford. Professor Channon undertakes a high volume of complex coronary interventions and stent procedures. His clinical research includes the evaluation of new stents, outcomes from coronary intervention and novel treatments including gene therapy in patients undergoing heart bypass operations. He also runs a basic science research group that is interested in the biology of atherosclerosis (the hardening of arteries).
Professor Ian Tomlinson is Professor of Molecular and Population Genetics at the WTCHG and an Honorary Consultant in Clinical Genetics at the Oxford Radcliffe Hospitals. His research focuses on identifying genes that predispose people to cancer, especially colorectal cancer, and working out how those genetic changes have their effects. Professor Tomlinson is also interested in the relative roles of selection and genomic instability in causing tumours to grow, and in applying this work to new molecular diagnostics.
New gene identified that may increase susceptibility to autism
Variations in a gene thought to be involved in the growth and development of nerve cells in the brain could be associated with susceptibility to autism, a new international study led by researchers from Oxford and Bologna Universities, and published in the journal Molecular Psychiatry, suggests.
Related papers by US researchers, which are published in the journal Nature at the same time, have identified other candidate genes associated with increased risk of autism spectrum disorders. These genes are also involved in the formation of connections between nerve cells in the brain.
Together, these three studies begin to build a picture of the complex genetic origins of autism spectrum disorders. It appears that there may be many common gene variants that each increase autism susceptibility by only small amounts, but that many of them play a role in processes to do with making neural connections in the brain.
‘Most of the genes that have been identified in these studies are involved in the connections between neurons called synapses,’ says Professor Tony Monaco of the Wellcome Trust Centre for Human Genetics at the University of Oxford. ‘This does seem to fit with what we know from brain scans – that people with autism may show different or reduced connectivity between different parts of the brain.’
‘This new knowledge allows us to focus our studies on developing new treatments and intervention therapies for the future.’
The Oxford University team, along with colleagues from the International Molecular Genetic Study of Autism Consortium at universities in Europe and the US, did a fine scan of regions on chromosome 2 and chromosome 7 that had been previously connected with increased risk of these conditions. They looked for common genetic changes and variations that could be associated with autism spectrum disorders.
The study sample consisted of 126 and 127 affected individuals and their parents for chromosomes 2 and 7, respectively, along with 188 people acting as controls. They analysed single-letter changes in the DNA code at over 3000 positions in each of the two gene regions and also any larger deletions or duplications of whole chunks of DNA.
The researchers found that DOCK4 on chromosome 7 may increase susceptibility to autism spectrum disorders. The DOCK4 gene is thought to be involved in the growth of dendrites – the long arms that extend from nerve cells to connect them and pass electrical signals to other neurons – in the brain.
‘This is a new finding – DOCK4 had not previously been associated with autism before,’ says Alistair Pagnamenta of Oxford University, one of the lead authors of the study.
‘The picture that emerges from these studies is a complex one,’ says Professor Monaco. ‘There are many genes involved in autism spectrum disorders, each has only a small effect or is found in only a minority of cases. This is not a surprise when clinicians and doctors see such different cases every day.’
‘The studies have implications for future diagnostic testing of autism spectrum disorders. I do believe such testing will become a possibility in the future and may offer some clinical benefit to affected children and their families.’
Autism spectrum disorders are a group of developmental disorders that emerge in early childhood which have a large, but complex genetic component. The disorders are characterised by difficulties in social interaction, communication, and understanding other people’s emotions and behaviour. The estimated number of children under 18 in the UK with an autism spectrum disorder is 133,500, according to the National Autistic Society.
Simons Foundation Autism Research Initiative: http://sfari.org/
PubMed ID 19401682: http://www.ncbi.nlm.nih.gov/
The Guardian Online 29 April: http://www.guardian.co.uk/lifeandstyle/2009/apr/29/autism-genetics-science-research
Daily Express Online 29 April: http://www.express.co.uk/posts/view/97777/DNA-breakthrough-in-treatment-for-autism
The Herald Online 29 April: http://www.theherald.co.uk/news/health/display.var.2504856.0.First_genetic_clues_to_autism_uncovered.php
Daily Telegraph Online 29 April: http://www.telegraph.co.uk/health/children_shealth/5237474/Gene-mutations-that-may-lead-to-autism-identified-by-scientists.html
Oxford Mail Online 29 April: http://www.oxfordmail.co.uk/news/4328081.Scientists_hail_autism_breakthrough/
The Independent online 29 April: http://www.independent.co.uk/life-style/health-and-wellbeing/health-news/researchers-find-first-common-autism-gene-1675964.html
RTE (Ireland) online 29 April: http://www.rte.ie/news/2009/0429/autism.html
The Sun p31 29 April: Click for pdf
BBC Radio Oxford 29 April 2009, 1600
BBC Radio Scotland 29 April 2009, 1620
Heart FM 29 April
Weldon Memorial Prize for 2008
The Weldon Memorial Prize for 2008 has been awarded to Professor Peter Donnelly, FRS, FMedSci, Professor of Statistical Science in the Department of Statistics and Director of the Wellcome Trust Centre for Human Genetics, University of Oxford.
The prize is awarded, “without regard to nationality or membership of any University to the person who, in the judgement of the electors, has, in the ten years next preceding the date of the award, published the most noteworthy contribution to the development of mathematical or statistical methods applied to problems in Biology. (Biology shall, for the purposes of this clause, be interpreted as including Zoology, Botany, Anthropology, Sociology, Psychology, and Medical Science.)”
Previous winners of the prize include: R.A. Fisher, E.S. Pearson, J.B.S Haldane, Mahalanobis, Sewall Wright, Motoo Kimura, M.S. Bartlett, D.G. Kendall, Robert May, D.R. Cox, John Maynard Smith, Warren Ewens, and Richard Peto.
The prize commemorates the memory of Walter Frank Raphael Weldon FRS (1860-1906), former Linacre Professor of Comparative Anatomy at the University of Oxford. Weldon was a Zoologist of distinction and one of the leading early biometricians.
Researchers help to demystify dyslexia
Dyslexia may be one of the world’s most common learning disorders, but it is no common task to establish the genetic factors that underlie this complex condition. As part of this ongoing quest, researchers at the Wellcome Trust Centre for Human Genetics (WTCHG), in collaboration with colleagues at the National Human Genome Research Institute (NHGRI), recently made a discovery that has opened a new window into dyslexia, as well as other common diseases caused by multiple genes.
At least one in 10 Americans has dyslexia, a brain-based disorder that can cause difficulty in reading and spelling. Both genetic and environmental factors are thought to contribute to the condition. Dyslexia tends to run in families, with the disorder affecting up to half of children born to parents with dyslexia.
Previous studies have found genetic variants associated with dyslexia in or near six genes, including several that have been implicated in brain development. But researchers have been unable to pinpoint exactly how any of these variants act to disrupt the brain’s normal development or function. The research team now reports that it has identified a functional variant that can reduce production of a protein thought to play a key role in brain development
The research team focused on a region of human chromosome 6 near a gene called KIAA0319, which previous research indicated is important for proper development of areas of the brain involved in reading ability. Other studies also suggested that the gene may be involved in dyslexia, but no functional variants directly affecting the protein could be identified.
In this new study, the researchers looked at seven variants that did not lie within the KIAA0319 gene, which means the variants themselves did not code for a protein. Instead, such variants have the potential to serve influence the regulation of KIAA0319, indirectly affecting protein production by acting to turn the gene on or off. From this group of variants, the group zeroed in on one most strongly associated with dyslexia
Specifically, they found that the genetic variant creates a new transcriptional regulatory element where a regulatory protein called OCT-1 can bind to DNA. Previous work involving other genes had shown that when OCT-1 binds to DNA, it turns nearby genes off, preventing them from producing proteins.
Dr Paracchini of the WTCHG said: "This work shows for the first time the mechanism by which a common genetic variant (present in about 15% of the population) has an impact on cognitive function. These findings will help us to take a step forward in the understanding of dyslexia and might have diagnostic implications in a longer term. More in general the same approach we have described can be used to identify genetic variants that are functionally relevant to other common diseases such as cancer, diabetes or hypertension."
Dennis MY, Paracchini S, Scerri TS, Prokunina-Olsson L, Knight JC, et al. (2009) A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene. PLoS Genet 5(3): e1000436. doi:10.1371/journal.pgen.1000436
Worlds collide as scientists and the public engage in 50 events across Oxfordshire
Worlds collide as scientists and the public engage in 50 events across Oxfordshire
A new Oxfordshire Science Festival launches an astonishing array of events with some of science’s biggest names.
Professor Marcus du Sautoy1 will officially launch the 2009 Oxfordshire Science Festival with a maths show (along the lines of his BBC mind games series) at the “Science In Your World Fair” in Bonn Square on Saturday 28 February. This will mark the start of 16 days and over 50 science events for schools and the public right across the county.
This first Oxfordshire Science Festival has been born of a collaboration between eight of the most renowned science organisations in the UK: the MRC, Oxford Brookes, Oxford Inspires, Oxford Natural History Museum, Science Oxford, UK Atomic Energy Association Culham, University of Oxford and Wellcome Trust Centre for Human Genetics. The new, centrally coordinated festival offers as great a range of activities and events for all ages as many of the biggest science festivals in the country.
From Banbury to Burford and beyond, people will have the opportunity to stretch their minds at seminars and demonstrations, to get their hands busy making slime, looking down microscopes and getting up close and personal with wildlife. Most of the events are free.
A number of the events have been tried and tested such as Wow!How! at the Natural History Museum as well as new events such as 60 Minutes of Sex, a question time panel show at the Oxford Playhouse Chaired by Judith Hann (Tomorrow’s World) and featuring Professors Frances Ashcroft and Paul Harvey, Bishop Lee Rayfield (Bishop of Swindon), Dr Petra Boynton (sexpert) and Dr Domenico Di Cleglie (gender specialist).
The Oxfordshire Science Festival aims to make science real and fun everyone, even for those who get think science is not for them. Full details of all events can be found at www.oxfordshiresciencefestival.co.uk
Genetic study shows direct link between vitamin D and MS susceptibility 'gene'
Researchers have found evidence that a direct interaction between vitamin D and a common genetic variant alters the risk of developing multiple sclerosis (MS). The research, published on 6 February in the open-access journal PLoS Genetics, suggests that vitamin D deficiency during pregnancy and the early years may increase the risk of the offspring developing MS later in life.
MS is the most common disabling neurological condition affecting young adults. More than 85,000 people in the UK and 2.5 million worldwide are thought to suffer from the condition, which results from the loss of nerve fibres and their protective myelin sheath in the brain and spinal cord, causing neurological damage.
The causes of MS are unclear, but it has become evident that both environmental and genetic factors play a role. Previous studies have shown that populations from Northern Europe have increased risk of MS risk if they live in areas receiving less sunshine. This supports a direct link between deficiency in vitamin D, which is produced in the body through the action of sunlight, and increased risk of developing the disease.
The largest genetic effect by far comes from the region on chromosome six containing the gene variant known as DRB1*1501 and from adjacent DNA sequences. Whilst one in 1,000 people in the UK are likely to develop MS, this number rises to around one in 300 amongst those carrying a single copy of the variant and one in 100 of those carrying two copies.
Now, in a study funded by the UK's MS Society, the MS Society of Canada, the Wellcome Trust and the Medical Research Council, researchers at the University of Oxford and the University of British Columbia have established a direct relationship between DRB1*1501 and vitamin D.
The researchers found that proteins activated by vitamin D in the body bind to a particular DNA sequence lying next to the DRB1*1501 variant, in effect switching the gene on.
“In people with the DRB1 variant associated with MS, it seems that vitamin D may play a critical role,” says co-author Dr Julian Knight. “If too little of the vitamin is available, the gene may not function properly."
"We have known for a long time that genes and environment determine MS risk," says Professor George Ebers, University of Oxford. "Here we show that the main environmental risk candidate – vitamin D – and the main gene region are directly linked and interact."
Professor Ebers and colleagues believe that vitamin D deficiency in mothers or even in a previous generation may lead to altered expression of DRB1*1501 in offspring.
The finding – that the environment interacts directly with the background genetics of MS – complements research recently published in Human Molecular Genetics by Professor Ebers’s group. There, they showed that environment changes to the same gene region can increase the risk of developing MS even further and can be inherited. These so-called "epigenetic effects" are being seen as increasingly important by scientists and there may be ways in which the effects reported in these two papers are related.
"Epigenetics will have important implications, not only for MS, but for other common diseases," says Professor Ebers. "For mothers, taking care of their health during their reproductive years may have beneficial effects on the health of their future children or even grandchildren."
The authors hypothesise that this gene-environment interaction may affect the ability of the thymus, a key component of the immune system, to perform its regular tasks. The thymus produces an army of T cells, which identify invading pathogens, such as bacteria and viruses, and attack and destroy them. There are millions of different T cells, each designed to recognise a specific pathogen, but there is a risk that one type might mistakenly identify one of the body's own cells or proteins.
Ordinarily, the thymus will regulate the T cells and delete those that pose the greatest risk of attacking the body's own cells and proteins. However, the researchers believe that in people who carry the variant, a lack of vitamin D during early life might impair the ability of the thymus to delete these T cells, which then go on to attack the body, leading to a loss of myelin on the nerve fibres.
"Our study implies that taking vitamin D supplements during pregnancy and the early years may reduce the risk of a child developing MS in later life," says lead author Dr Sreeram Ramagopalan. "Vitamin D is a safe and relatively cheap supplement with substantial potential health benefits. There is accumulating evidence that it can reduce the risk of developing cancer and offer protection from other autoimmune diseases."
The research has been welcomed by Simon Gillespie, Chief Executive of the MS Society (UK).
"These remarkable results tie together leading theories about the environment, genes and MS but they are only part of the jigsaw," says Mr Gillespie. "This discovery opens up new avenues of MS research and future experiments will help put the pieces together."
Ramagopalan, S et al. Expression of the Multiple Sclerosis associated MHC class II allele HLA-DRB1*1501 is Regulated by Vitamin D. PLoS Genetics, 6 Feb 2009.
BBC News Online 5 February: http://news.bbc.co.uk/1/hi/health/7871598.stm
Daily Telegraph Online 5 February: http://www.telegraph.co.uk/health/healthnews/4525873/Vitamin-D-for-pregnant-women-could-cut-MS-rates.html
Guardian Online 5 February: http://www.guardian.co.uk/society/2009/feb/05/multiple-sclerosis-sunshine-vitamin-d
Times Online 5 February: http://www.timesonline.co.uk/tol/life_and_style/health/article5663483.ece
The Sun Online 5 February: http://www.thesun.co.uk/sol/homepage/woman/health/health/article2209004.ece
CBC News Online 5 February: http://www.cbc.ca/health/story/2009/02/05/ms-vitamin-d.html
Marie Claire Online 5 February: http://www.marieclaire.co.uk/news/health/300234/vitamin-d-could-prevent-ms.html
Daily Mail Online 6 February: http://www.dailymail.co.uk/health/article-1136422/Vitamin-D-protect-MS-say-scientists.html
Daily Mirror Online 6 February: http://www.mirror.co.uk/news/top-stories/2009/02/06/save-your-child-from-ms-by-sunbathing-pregnant-115875-21101084/