HOUSE OF COMMONS RECEPTION FOR AUTISM SPEAKS 23 MAY 2007
Challenges & progress in autism research - speech made by Dame Stephanie Shirley
Our timing is perfect in choosing today to report on progress in autism research, as the 2007 International Meeting for Autism Research took place only a couple of weeks ago in Seattle. It is a measure of the interest in autism research today that this attracted more than 900 scientists, clinicians, psychologists, psychiatrists, geneticists, neuroscientists, educators and parents from more than 30 countries around the world. Now you may think UK researchers would have found this sufficient, but no – nearly 200 delegates assembled at the Open University in Milton Keynes just the following weekend to report progress on research here – many of those reporting acknowledging the role of Autism Speaks in sponsoring their research.
It would be wonderful to tell you that there was some major breakthrough in our understanding of what causes autism and that consistent new ways of improving the quality of life for all those affected are just around the corner – but that is not here yet. What does emerge from these meetings is that it is the gradual and most importantly accelerating accretion of knowledge across many streams of research – genetic, neurological, psychological, biological – and insights that one lends to the other that will solve the puzzle of autism.
Many of the findings reported are preliminary and researchers need either to work up the data more or wait for their study to be confirmed independently by others. But this is all part of robust scientific enquiry and is necessary to ensure research findings (and their interpretation) are based on solid ground. So from year to year, it can seem as though some areas of research are not advancing as fast as we would like, but in reality it reflects that as preliminary findings are built on, probed and exploited, you and I can grow in confidence about their interpretation.
I spoke at the Open University about what we see as the major challenges to autism research and one of the things I called on researchers to do was not to duplicate research that has already been shown to be solid but also, vitally, to publish all results, including negative ones. It can be important to know that something didn’t work. As James Joyce put it “mistakes are the portal of discovery”.
But let me update you on how researchers are responding to the challenges we have identified:
The first challenge is to account for the apparently rapid rise in the number of people with autism. How much is due to more sensitive measurement and redefinition or is there a true increase in the disorder?
This year in Seattle Autism Speaks sponsored its third day long International Epidemiology Meeting attracting representatives from over 20 countries. The goal is to encourage more rapid and accurate global epidemiological efforts through a network of researchers willing to standardise procedures and share data. Understanding what is happening in different territories is vital to understanding potential causes and pooling knowledge is the key to achieving this. I am pleased to say that UK researchers are playing an active role in this network.
Our second challenge is that a major obstacle to progress is that diagnosis still relies on behaviour rather than basic biology, so how can we reliably diagnose autism as early as possible?
Much excellent work is now being done in studying the infant siblings of children with autism by networks of collaborating behavioural and neuroscientists in North America and the UK. These higher risk babies and toddlers are a vital source of information about the earliest signs of autism, language learning and the social brain. And where sadly a prognosis appears, they are the group in which we are starting to test the impact of intervening at the very earliest opportunity. We still have no biological markers for autism – we still do not know what it is as opposed to what it looks like – but we can look forward to translating what is being learnt here into real benefits for families.
The third challenge to autism research is understanding whether there is one disorder or are there many separate but related conditions. How do we identify the susceptibility genes?
The creation of collaborations such as the International Autism Genome Project and the Autism Genetic Resource Exchange have made possible the collection of the large volumes of genetic material necessary to produce the evidence for susceptibility genes that is now beginning to emerge. The fast increasing power of technology to “fine-map” genes means that we can predict rapid progress over the next couple of years and there is a sense amongst genetic researchers that they are at a tipping point of discovery. We are of course very proud that Autism Speaks is a major sponsor of the Autism Genome Project and that the second phase of the research now underway is led by Prof Tony Monaco here in the UK.
My fourth challenge is what is different about the autism brain and what is the role of neuroimaging in understanding the clearly altered information processing of people with autism?
Our own Prof Anthony Bailey of Oxford University spoke in Seattle about the recently expanded range of imaging tools that are leading to a better understanding of the neurological basis for autism by allowing us to study both abnormalities in neural function and differences between the way normally developing and autistic children process information.
But brain tissue research is also vital to understanding autism on a cellular and molecular level and this is hampered by a shortage of post-mortem brains. Progress is being made as a result of the Autism Brain Atlas Project funded by Autism Speaks, which is the largest cohort of brain tissue from age-matched people with and without autism ever assembled. This is revealing meaningful structural differences in autism brains. But more must be done and we have plans to strengthen autism brain tissue research here in the UK in collaboration with the Medical Research Council and Oxford University.
Challenge 5 is how do we bring research resources and information together in an integrated strategy?
Information and imaging technologies clearly have a vital role to play here and there are excellent models from other research sectors of how the creation of research collaboratives have accelerated the pace of discovery. But it seems to us that while we are excited by the many streams of autism research now underway there is a risk that, like people with autism themselves, by concentrating too much on areas of behavioural, genetic, environmental or neurological detail we may not see the wood for the trees.
We need some new integrative as well as detailed thinking and the January 2008 workshop on the neurobiology of autism on which we are working with the Wellcome Trust will be a key opportunity to stimulate this.
My penultimate challenge is how do we optimise current interventions and integrate new research into clinical applications. There is a dearth of professionals well-equipped to give families sound advice on both intervention and indeed general health care problems which are often dismissed as being “part of the autism”. Vital clues to the nature of autism may be missed because we fail to see the significance of these associated conditions. State-funded health research in the UK is being restructured to give greater emphasis to translational research – the direct translation of laboratory findings into treatment trials. There is scope for autism here, as the new programme grant to Prof Declan Murphy at the Institute of Psychiatry has shown. But without much greater awareness of autism in the general clinical and professional populations many people’s access to emerging clinical applications will be restricted.
The supreme challenge to autism research lies not in the research itself but in the vulnerability of the people that we study. Autism research must have integrity and we currently focus too much on high-functioning adults. Researchers and ethics bodies must find ways of studying children and low-functioning adults so that our understanding spans the full autistic spectrum.
My personal mission is that the causes of autism should be understood by 2012 and the global costs of autism halved by 2020. These are hugely ambitious aims that are frankly beyond the reach and indeed the means of the autism community itself and to achieve them we must engage the public. So far their engagement has been linked only to controversy such as MMR and mercury in vaccines. As study after study fails to establish significant associations much money has been spent on public reassurance that might have gone into work of greater real impact. But engage the public we must as we are one research area amongst many. Perhaps Prof Martin Knapp’s quite astonishing findings, now reinforced by economic research in Australia, will be the catalyst we have been waiting for. But it would be wonderful if all of you here today, researchers, families, politicians, autism charities, even civil servants were to join us in becoming activists in demanding answers to the Big Question of what causes autism. That way lies hope, lies funding, lies effective intervention, lies choice and ultimately a reduction in the enormous burden laid by autism not only on individual families but society as a whole.