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News- Page 19
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Research : Use of primates led to medical breakthroughs
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Posted by sylvia on Wednesday, January 28, 2004 (19:49:16)
Times Online 28/01/2004
By Mark Henderson
The planned research centre was intended to provide the most advanced facilities for investigations of neurological disorders such as Alzheimer’s, Parkinson’s, multiple sclerosis, paralysis and autism.
Medical researchers are always reluctant to use animals, and turn to computer models and cell cultures where possible. Particular sensitivity surrounds the use of monkeys because their brains are so much more complicated than those of other laboratory animals, such as rats and mice.
The complexity of primates’ brains and their similarity to those of human beings, however, sometimes make them indispensable to research.
The connections of the human brain are so poorly understood that there are no viable computer models, and advanced neuroscience requires a limited number of experiments performed on monkeys.
Such experiments have been responsible for many breakthroughs in the treatment of neurological diseases. Among the most spectacular has been deep brain stimulation for Parkinson’s disease, in which electrodes are implanted into the brain to act as a “pacemakerâ€, reducing the condition’s characteristic tremor.
Primate research is rigorously controlled in Britain and very few experiments are conducted each year. Fewer than 4,000 procedures took place in 2002 and monkeys, mostly macaques and marmosets, account for only 0.15 per cent of all the animals used in British experiments.
All research must conform to the Animals (Scientific Procedures) Act 1986, which requires triple-licensing of all experiments.
Licences are granted only if potential results are important enough to justify the use of animals and if it is impossible to do the research without animals. Primate use is allowed only when other species are not suitable, the minimum number of animals must be used, and suffering must be kept to a minimum.
The system is enforced by a team of Home Office inspectors, all of whom are either doctors or vets, who visit each laboratory an average of 11 times every year.
The use of animals in cosmetics safety testing is also forbidden by law.
In France, licences are more easily obtained, there are no unannounced inspections of laboratories and no independent inspection regime, and animals can be re-used in multiple procedures.
In the United States scientists performing animal experiments do not require specialist training.
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Research : Science getting to roots of autism
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Posted by Sylvia on Monday, January 12, 2004 (19:37:13)
USA Today 12/01/2004
By Kim Painter
When Blake Draut was 2½ years old, a specialist told his parents that their son's speech delays and odd habits, his fears of dirty hands and grassy feet, were part of a bigger problem: autism.
When the specialist learned that Blake was part of a set of fraternal triplets, all with developmental quirks, "she wanted to see all three," recalls Blake's mother, Danielle Draut.
Several months and several evaluations later, the Anaheim, Calif., family had the news: Two of the three boys were autistic. The third, who turned out to have a hearing problem, didn't qualify for an autism diagnosis but did show some of the rigid behaviors associated with the disorder.
What might sound like an extraordinary run of bad luck was actually nothing of the sort: Scientists have known for some time that autism often runs in families. Studies suggest that if one child is autistic, there's a 5% to 10% chance that any sibling will be autistic, and a 30% to 40% chance that the sibling will have milder, but related, problems. If the sibling is an identical twin, the risk for autism shoots to between 60% and 90%, says Andy Shih, research director of the National Alliance for Autism Research.
Although environmental factors clearly play a role, "autism is the most genetic of neuropsychiatric syndromes," more strongly linked to genes than schizophrenia or bipolar disorder, says Dan Geschwind, a genetics researcher at the University of California-Los Angeles.
And now researchers are poised to learn which genes are involved in autism, how they work and how their effects might be blunted. It's all part of a new push for autism answers, fueled by new technology, new funding and, perhaps most important, a heightened public awareness of an increasingly diagnosed disorder.
"It's a very exciting time," Geschwind says.
Geschwind was among autism researchers who spoke recently at a summit in Washington, D.C., sponsored by the federal government. At the meeting, government officials laid out a 10-year plan for improving services for autistic people and for studying its causes and possible treatments.
High on the list of priorities is finding the genes associated with autism. At the meeting, the private autism research alliance and the public National Institutes of Health announced a partnership to do just that. The NIH is contributing $2.5 million, and the alliance is contributing $2 million to start the project, which will help to link the work of 170 researchers around the world, Shih says.
Actually running it over the next five years will cost up to $25 million, money that has not yet been committed, Shih says.
And finding the genes will be a complex task.
Preliminary research suggests that 15 to 20 different genes may contribute to autism susceptibility — and that different combinations of those genes may cause different variations in different people.
"In child A, it may be genes number 2, 4 and 6; child B may have 1, 3 and 6 interacting," Shih says. "Ideally, this project should be able to identify all of the possible combinations."
Finding so many genes in so many combinations will require many DNA samples from affected families, experts say. "The power is in the numbers," says Thomas Insel, director of the National Institute of Mental Health (NIMH).
Genetic resource exchange
That's where families like the Drauts come in. About a month ago, Danielle, her husband, Jon, and the boys got a visit from a medical technician who took several tubes of blood from each family member. Sometime soon, specialists will visit the family home to observe the boys, who are now almost 5, and take detailed histories of their development.
They also will interview Danielle and Jon about their family histories, looking not only for a history of autism, but also for a history of related disorders and traits — everything from language delays to obsessive-compulsive disorder.
The project in which the family is participating is called the Autism Genetic Resource Exchange. It started in the late 1990s as a private effort financed by the Cure Autism Now Foundation. At that time, the Los Angeles advocacy group was begging scientists to do more research on autism genes and was finding that a major obstacle was a lack of genetic samples, says foundation founder Jon Shestack. "There wasn't much of it, and most of it was in the hands of scientists who didn't necessarily want to share," says Shestack, himself the father of an autistic boy.
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Research : Project seeks to help screen, serve gifted disabled students
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Posted by Sylvia on Saturday, January 10, 2004 (21:08:12)
Hattiesburg American 10/01/2004
Determining the best practices in screening, identifying and serving gifted disabled students in Mississippi is the basis for a study being conducted at the University of Southern Mississippi's Frances A. Karnes Center for Gifted Studies.
"Some of Mississippi's brightest children do not receive an appropriate education due to their disability," said center director Frances Karnes. "Twice-exceptional students need to have instruction based on their disability and giftedness. These sessions will bring current and valuable information to a variety of groups including teachers, administrators, psychologists, and parents."
Children who have autism, Asperger's Syndrome, learning or physical disabilities, visual, hearing or speech impairments, traumatic brain injuries, or emotional disabilities can be intellectually, academically, creatively, or artistically gifted, Karnes said.
In order to raise awareness of gifted abilities among children with any of these disabilities, workshops will be conducted throughout the state by researchers from the center to share information gathered from the study with administrators, educators, and parents. Training events in the state have been scheduled in the following cities:
· 9 a.m. to noon March 4, old board room, Jackson Public School District, 712 S. President St.
· 8 a.m. to noon March 11, board room, Hattiesburg Public School District Office, 301 Mamie St.
· 9:30 to 11:30 a.m. April 2, Mississippi University for Women, Columbus.
· 9 a.m. to noon April 6, lecture hall, Biloxi High School.
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Research : Using fMRI technology to understand hyperlexia
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Posted by Sylvia on Thursday, January 08, 2004 (10:41:18)
Eurek Alert.org 07/01/2004
Washington, D.C. - Georgetown University Medical Center researchers today published the first ever fMRI study of hyperlexia, a rare condition in which children with some degree of autism display extremely precocious reading skills. Appearing in Neuron, the case study uncovers the neural mechanisms that underlie hyperlexia, and suggest that hyperlexia is the true opposite of the reading disability dyslexia.
Hyperlexia is found in very rare cases in children who are on the "autism spectrum," meaning they display some characteristics of autism. Like autistic children, children with hyperlexia have extreme difficulty with oral communication, social interaction and expression, and yet can read surprisingly well at a very young age.
By some accounts, hyperlexic children can read at 18 months, sometimes two years before they have ever uttered a single word. They are drawn to print, sometimes reading all the signs and license plates they might encounter during a brief walk through the parking lot.
The child in this case study, Ethan , reads six to eight years in advance of his age. He read dictionaries in his twos, but spoke his first word at age three and a half.
"This advanced reading ability, which would likely surprise any parent, is even more extraordinary given that many of these children begin reading before mastering spoken language, and sometimes before speaking at all," said senior author Guinevere Eden, DPhil, associate professor of pediatrics and director of Georgetown's Center for the Study of Learning.
"Current theories of reading development posit that decoding skills are based on linguistic abilities, but our finding suggests that children like Ethan are able to map sound onto print without a solid language basis."
Eden and her colleagues use fMRI technology to study how brains develop and function as children learn to read. Most children acquire reading skills through explicit instruction received over several years of schooling. In this study, the research team wanted to illucidate the neural signature for precocious reading, which arose in the absence of any teaching.
Deviations from the normal pattern would suggest that other regions of the brain might have the potential to become involved in the reading process and would shed light onto possible compensatory strategies of the abnormally reading brain.
The hyperlexic boy, Ethan performed several reading tests while lying down in the fMRI. The researchers then compared hot spots of brain activity in Ethan as he performed these tasks against brain scans of typically developing readers, who were matched to Ethan on either chronological or reading age.
Compared to these groups, Ethan demonstrated greater activity in an area on the left side of the brain that is associated with understanding the sounds of speech as well as a region on the right side of the brain that is part of the visual system.
Co-author Peter Turkeltaub, a PhD student, draws an analogy of to the volume control on a radio. "A region of the brain implicated in reading skills, the left superior temporal cortex, is like a dial. When the dial is turned up, you find accelerated readers, or hyperlexics.
When the dial is turned down, as has been shown for dyslexic children, you find inefficient readers. The more neurological research we do, the better we may understand how the dial works and what educational interventions may turn the dial toward its optimum point."
Ethan's parents knew something was peculiar with their son at a young age. He did not speak, make eye contact, or respond to typical verbal or non-verbal communications cues. However, he could sit silently in a corner and read books for hours.
Now at age eleven, Ethan attends a public school with an aide, and was recently voted class president. He has an insatiable curiosity for books, magazines, and television, but still has difficulty in social situations. According to his mom Ilene, "the other kids think he is very smart but very unusual. There are times when he says things that make the other kids realize he is not quite the same."
Ilene said, "If I could tell people one thing about hyperlexia, I would remind them that these children have a tremendous gift and that reading is the way to unlock their minds and hearts. Don't try to take their books away to force them to interact with people. Encourage their reading ability, because they have so much to offer the world, just in a more unconventional way."
"Neuroscience is allowing us to better characterize people who were before all bundled under the general autism umbrella," said Eden. "Just as it is extremely helpful to distinguish a child with Asperberger's, identification of hyperlexia can be equally as important for early intervention and appropriately tailored education."
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Research : Major Population-based Study of the Genetics of Autism
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Posted by Sylvia on Wednesday, January 07, 2004 (18:26:03)
source: PRNewswire-FirstCall - REYKJAVIK, Iceland
07/01/2004
deCODE genetics and The Simons Foundation, a New York-based organization supporting advanced research in the basic sciences, today announced the launch of the first ever population-based study of the genetics of autism and autism spectrum disorders (ASDs). Funded by a two-year, $2.8 million grant from The Simons Foundation, deCODE has begun a population- and genome-wide gene discovery effort aimed at identifying the key genetic components of these disorders.
It is well established that these conditions run in families, but the identification of the specific inherited causes may provide valuable insight into the neurological dysfunctions they evoke. Knowledge of the biology of these disorders may in turn clarify the role of environmental factors and contribute to the development of new methods of diagnosis and treatment.
The deCODE study will bring together detailed genotypic and clinical data on individuals diagnosed with autism and ASDs, as well as genotypic data and information from detailed questionnaires on aspects of social communication and other behavioral characteristics from first and second degree relatives.
In total, the study aims to include several hundred individuals with autism and ASDs, and several thousand of their relatives. The ability to assemble such comprehensive clinical and behavioral data for population-wide linkage analysis offers an unprecedented opportunity not only for identifying key genes linked to these disorders but also for pinpointing which elements of these complex phenotypes are inherited.
In this program the deCODE team is working with the National Diagnostic and Counseling Center, which carries out diagnostic evaluations and oversees therapy for children and adolescents with autism and related spectrum disorders throughout Iceland, as well as the Icelandic Autism Support Network, an organization of families and caregivers, and physicians and psychologists at the Department of Child and Adolescent Psychiatry at the National University Hospital. Dr. Catherine Lord of the University of Michigan, a renowned expert in this field, is serving as a clinical advisor, assisting the deCODE team in the development and analysis of the questionnaires that will be given to family members.
The questionnaires are designed to capture often subtle behavioral and personality traits which, although not clinically relevant on their own, may in certain combinations or in extreme forms constitute important components of these disorders.
"We are very excited to begin tackling the genetics of autism and autistic spectrum disorders. Our discoveries in other neurological and behavioral disorders like schizophrenia, anxiety and depression demonstrate that our population approach has the power to pull out major genes even in the most complex disorders the basic biology of which is little understood. I am confident that we will succeed in autism as well, and we and our collaborators are very grateful to the Simons Foundation for their support for this project," said Kari Stefansson, CEO of deCODE.
"We are very pleased to be working with deCODE on this project. It represents a crucial component in our foundation's new program to search out the root causes of autism, a condition which affects very many people around the world. We believe that deCODE's proven expertise has a great chance to prove highly successful and we are delighted to be associated with so fine an organization," said Jim Simons, founder of the Simons Foundation.
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