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You and YoursÌý- Transcript 91Èȱ¬ Radio 4 |
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TX: 11.10.04 - Autism and Genetics Ìý PRESENTER: JOHN WAITE |
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THE ATTACHED TRANSCRIPT WAS TYPED FROM A RECORDING AND NOT COPIED FROM AN ORIGINAL SCRIPT.Ìý BECAUSE OF THE RISK OF MISHEARING AND THE DIFFICULTY IN SOME CASES OF IDENTIFYING INDIVIDUAL SPEAKERS, THE 91Èȱ¬ CANNOT VOUCH FOR ITS COMPLETE ACCURACY. WAITE Half a million children and adults in this country are on the autism spectrum. But while we may know the scope of the condition we still don't know its cause. Researchers are focussing on two key areas: environmental and genetic. The theory is that some people have a genetic propensity for autism which is then somehow triggered by something in the environment. But then the experience of twins shows how difficult finding answers will be because genetically identical twins, brought up in identical environments, might be expected to be equally susceptible to a condition like autism. But in cases where one twin turns out to have the condition only 60% of second twins do. Ìý Well Jane Harris and her three children from Plaistow in East London are one of a number of volunteer families taking part in a major new research project, in fact it's the largest global study ever into autism genes. Carolyn Atkinson has been speaking to the Harris's, as she's been given exclusive access to the project and the scientists from Oxford University who are running it -Drs Jeremy Parr and Simon Wallace. Ìý PARR The main aim of the study is to find the genetic basis of autism and autism spectrum disorders. And what we do is we go and visit families, we take a sample of blood from each of the members and then we do assessments - interviews with the mum and a play schedule with the children. Ìý JEAN HARRIS I'm Jane, I'm mum to Alfie, Jessie and Charlotte. Charlotte, very early on, showed signs of autism. Ìý CHARLOTTE HARRIS My name is Charlotte. I'm number seven. Ìý AFLIE AND JESSIE HARRIS No you're not you're number eight. Ìý CHARLOTTE HARRIS I'm number eight. Ìý JEAN HARRIS And obviously Alfie has problems too. Ìý ACTUALITY Let's sing together Charlotte. Ìý [Singing] Ìý JEAN HARRIS I don't really think there could be any other answer actually, I think it's genetic. Ìý WALLACE This question of finding genes for autism and therefore by recruiting lots of families who have two or more children with autism spectrum disorders and we can hopefully track those genes down. Ìý ATKINSON A number of different studies have all isolated three key chromosomes called 2, 7 and 16 as being relevant in the development of autism. That's like isolating three mountains within a mountain range that are covered in rocks. So to find the genes within those chromosomes scientists have to, as it were, pick through those thousands and thousands of rocks. But scientists do know quite a lot already about genes and autism and that information is going to be ruled out in this study. Ìý WALLACE We're actually looking for a group of people who don't have any chromosomal abnormalities, don't have any evidence of Fragile X Syndrome, which is a syndrome which the x chromosome basically shows some abnormalities that can lead to learning difficulties and autism in individuals. Ìý ATKINSON So you're ruling out all the things you do know about and you're now concentrating on people who aren't showing any of those things and you're hoping you're going to find the answer in them? Ìý WALLACE Yes, so we concentrate on what we would consider to be hopefully a genetically pure group for autism. We then look at how those families might share a particular gene more than the rest of the population. Ìý ACTUALITY So Alfie, I think we're just ask you a few questions, if it's alright, from this little book here. I think what we'll do is - well the first one is - What do you like doing that makes you feel happy and cheerful? Ìý Football. Ìý So who do you support then - which football team do you support? Ìý West Ham United. Ìý West Ham. Ìý ATKINSON Professor Anthony Bailey a world authority on autism is overseeing the Oxford study. He says genes are fundamental to finding a cause because they make and then program proteins. And proteins in the brain help control behaviour and understanding and those are factors often lacking in people with autism. Ìý BAILEY The key reason for one to identify the genes that increase the risk of developing autism is that once we have identified those proteins we hope that will give us a lot of information about the way in which the brain is developing in a different way in people affected by autism spectrum disorders. Ìý ACTUALITY How does it feel inside if you're scared then? Ìý My heart's kind of beating fast. Ìý BAILEY And that should then offer the possibility of either developing new specific treatments - whether that's using some sort of biological intervention or indeed specific psychological interventions should be administered. Ìý ACTUALITY Okay so Alfie this is a book called Tuesday and this is a book with lots and lots of pictures but not very many words and I want you to describe to me what's happening in this book. Ìý The Frogs are flying - flying round the countryside having lots of fun and the tortoise is getting scared. Ìý And what about this next one Alfie? Ìý BAILEY In studies of how the brain responds when people look at pictures of human faces in normally developing individuals there's a particular part of the brain, known as the fusiform gyrus, that is strongly activated when we see faces and older individuals who have strokes that damage this area have severe problems in face processing - they can't even recognise their husbands or wives quite often. Ìý ACTUALITY ... I'm getting him back now for chasing me. Ìý That's right, isn't it. Then all of a sudden ... Ìý BAILEY When people with autism process faces the majority of them are not activating that part of the brain, they're activating adjacent regions, suggesting that they're using an alternative strategy. Ìý ACTUALITY ... the pig is flying. Ìý Pigs - they're flying. What do you think this pig thinks about that? Ìý Wow this is cool flying through the air. Ìý Absolutely, that's exactly it. Very good. Well done that was super. Ìý The way they transform is freaky. Ìý So now if we can take a sample from Alfie that would be great. Ìý Do you want to count to five for me Alfie? Ìý One, two, three, four ... Ìý PARR For us personally speaking this is the best part of the job - where we come and visit the families and we get to see the children. We're very hopeful that the findings we get are going to be really interesting and so far look very encouraging. Ìý ATKINSON I mean it's a real reminder of what it actually means day to day when you're sort of taking the science out of the lab here aren't you in a sense. Ìý WALLACE Absolutely. We're obviously extremely grateful to the families for all their help because this research cannot continue without the goodwill and the time of the families and children. Ìý This purple tube here gets taken to a lab in Oxford, which is where we're going next. They will have a look at it in terms of genetic testing and put it with our other samples. Ìý So we've just arrived at the Wellcome Trust Centre for Genetics in Oxford. Ìý ATKINSON We've come through the lab, walked through right to the other end, and we're in a sort of sealed room here aren't we. We've got the two tubes of blood that we took from Alfie earlier this morning. Ìý WALLACE And we're here with Janine Lamb, who's one of the laboratory workers here and we hand our samples from Alfie over to her. Ìý LAMB I'm just pouring the blood now into an eppendorf tube, to which I'm going to add some solution. And this solution will burst the white blood cells and release the DNA and the chromosomes, so then we can extract the DNA more easily. Ìý ATKINSON And those are the bits you need to get to, to start looking for any sort of common cause? Ìý LAMB Yes that's right. We're hoping - at the moment we're about to adopt some novel technology, which will enable us to look at a much larger number of genes in a much faster time. Ìý ATKINSON In fact before that new technology was available mass genetic scanning wasn't even feasible because it would have taken as long as five years to screen genes. Now it'll take as little as six months, with the first findings due as early as February. Professor Bailey again. Ìý BAILEY We're in a much better position than we were only six or seven years ago. In part because we now know where some of the susceptibility genes that predispose to developing autism are located on different chromosomes. And it's really now only a matter of time until we've identified those. But also our understanding of the brain basis of autism has moved along significantly in the last 10 years, to an appreciation that there might be differences in brain structure and function in people with autism. So I think there must be an expectation that over the next 10 years there are going to be considerable leaps in our understanding and I think a strong hope that that will then translate into improved treatments. Ìý ACTUALITY - ALFIE ETC. Do you love me? Ìý No. Ìý Yes you do, you love me, you love me. Ìý [Singing] Ìý ATKINSON Are you quite excited by the fact that your family is contributing to such a big project? Ìý JEAN HARRIS Yes, it's wonderful actually. Hopefully it'll help someone else in the near future because it's hard to live with and it's long term - it's not just now, it's in 20 years time, when I die who's going to look after Charlotte and Alfie, it's not just now, it's the bigger picture as well. Ìý ACTUALITY [Singing] Ìý WAITE Jean Harris and her children ending that report from Carolyn Atkinson. And tomorrow we'll have more on the causes of autism with a look at the other key suspect - the environment. Back to the You and Yours homepage The 91Èȱ¬ is not responsible for external websites |
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