grinner
07-20-2004, 07:39 AM
Genetic scanning study seeks clues to autism
By Paul Jacobs
Mercury News
In the largest study of its kind, scientists at more than 50 research centers around the world are launching a hunt for the genes responsible for autism, a brain disorder that robs children of basic language and emotional skills as they grow up.
Researchers will use tools developed by a Silicon Valley company, Affymetrix, to scan the genetic codes of 1,500 families that have autistic children, hoping to zero in on genetic mutations that are believed to play a role in triggering the disease.
Studies say that autism afflicts as many as one in 166 children in different degrees. Identifying the mutations that play a role in the disorder should one day lead to improved treatments for families like the Lishmans of La Selva Beach, who have autistic 14-year-old twins.
The teenagers, Kathryn and Ryan, were diagnosed with autism more than a decade ago and blood samples taken from the children and parents at Stanford University several years ago will likely be analyzed as part of the new study. Like most full-blown autistic children, the Lishman twins seemed typical as infants.
``They were fine at birth,'' said their mother, Janet Lishman. ``They met all their milestones at 18 months.'' But soon little things started going wrong. Her daughter stopped responding to hearing her name called. Her son was not learning to speak.
``I'm very hopeful we'll start getting answers,'' said Dr. Linda Lotspeich, who directs the Neuropsychiatric Pervasive Development Disorders Clinic at Stanford University and is participating in the study.
Studies of identical twins, who share the same genetic code, have shown that heredity plays a strong role in autism. When one twin is affected there is a 60 to 90 percent chance that the other one will be, too. But because not every twin of an autistic child is also affected, researchers believe that other factors must play a role as well.
Lotspeich notes that earlier, smaller studies looking for the genetic component of autism have been inconclusive. She credits parent-driven organizations like the National Alliance for Autism Research, which is sponsoring the latest study, for pushing virtually all the leading researchers in the field to pool their resources and work together. ``I feel we're making history,'' she said.
The non-profit group was started in 1994 by parents of autistic children who were frustrated with the slow pace of research. Families are desperate for any advance that can help their autistic children, many of whom will require supervised care for the rest of their lives.
To speed the gene hunt, the study will look only at families that have at least two children who have been diagnosed with autism, now thought of as a range of related disorders. Using DNA extracted from blood samples, the scientists will compare the genetic makeup of healthy parents with their affected children to track down the responsible genes.
Initially, they hope to be able to identify large chunks of genetic code linked to the condition using high-speed equipment and commercial DNA chips from Affymetrix in Santa Clara that can quickly spot thousands of genetic variations in a single sample. Later on, the scientists will look within those chunks of code to find the abnormal genes themselves, which help spark the condition in seemingly healthy infants.
Families pour enormous amounts of time and money into training their children to recover skills that the disorder takes away, or to stop inappropriate, repetitive behavior that is a hallmark of autism.
Pam Barrett of San Jose, who has three children with different degrees of autism, is now working hard to stop one of her identical twin boys from pulling out his permanent teeth.
The first stage of the new study, which is sponsored by the National Alliance at a cost of $2.5 million, is intended to begin sorting things out.
The second more difficult stage, identifying the genes themselves, could cost as much as $15 million and take another three or four years. A large part of the funding will come from the National Institutes of Health, which is a partner with the Alliance in what is being called the Autism Genome Project.
If the hunt for the autism genes is successful, it could become a model for unearthing the genetic contributions to several complex, difficult-to-treat human diseases, including diabetes, schizophrenia, and Alzheimer's. In each case, there's reason to believe that there's a hereditary component, but scientists have yet to identify conclusively which malfunctioning genes are involved. Finding the genes would add a new understanding of what goes wrong in these disorders and could lead to better ways to diagnose and treat them.
```This is science on a grand scale, a model everyone can use for every complex genetic disease,'' said Dietrich A. Stephan of the Translational Genomics Research Institute in Phoenix, which is leading the autism study.
Said Greg Yap, a senior marketing director at Affymetrix, which has worked closely with the researchers: ``We wouldn't want to raise expectations for a cure for autism.'' But, he said, the lengthy procedures for finding the causes of complex genetic diseases have now become a lot quicker.link (http://www.siliconvalley.com/mld/siliconvalley/news/local/9190577.htm)
1 in 166 children... wow, this is more common that I would have guessed.
By Paul Jacobs
Mercury News
In the largest study of its kind, scientists at more than 50 research centers around the world are launching a hunt for the genes responsible for autism, a brain disorder that robs children of basic language and emotional skills as they grow up.
Researchers will use tools developed by a Silicon Valley company, Affymetrix, to scan the genetic codes of 1,500 families that have autistic children, hoping to zero in on genetic mutations that are believed to play a role in triggering the disease.
Studies say that autism afflicts as many as one in 166 children in different degrees. Identifying the mutations that play a role in the disorder should one day lead to improved treatments for families like the Lishmans of La Selva Beach, who have autistic 14-year-old twins.
The teenagers, Kathryn and Ryan, were diagnosed with autism more than a decade ago and blood samples taken from the children and parents at Stanford University several years ago will likely be analyzed as part of the new study. Like most full-blown autistic children, the Lishman twins seemed typical as infants.
``They were fine at birth,'' said their mother, Janet Lishman. ``They met all their milestones at 18 months.'' But soon little things started going wrong. Her daughter stopped responding to hearing her name called. Her son was not learning to speak.
``I'm very hopeful we'll start getting answers,'' said Dr. Linda Lotspeich, who directs the Neuropsychiatric Pervasive Development Disorders Clinic at Stanford University and is participating in the study.
Studies of identical twins, who share the same genetic code, have shown that heredity plays a strong role in autism. When one twin is affected there is a 60 to 90 percent chance that the other one will be, too. But because not every twin of an autistic child is also affected, researchers believe that other factors must play a role as well.
Lotspeich notes that earlier, smaller studies looking for the genetic component of autism have been inconclusive. She credits parent-driven organizations like the National Alliance for Autism Research, which is sponsoring the latest study, for pushing virtually all the leading researchers in the field to pool their resources and work together. ``I feel we're making history,'' she said.
The non-profit group was started in 1994 by parents of autistic children who were frustrated with the slow pace of research. Families are desperate for any advance that can help their autistic children, many of whom will require supervised care for the rest of their lives.
To speed the gene hunt, the study will look only at families that have at least two children who have been diagnosed with autism, now thought of as a range of related disorders. Using DNA extracted from blood samples, the scientists will compare the genetic makeup of healthy parents with their affected children to track down the responsible genes.
Initially, they hope to be able to identify large chunks of genetic code linked to the condition using high-speed equipment and commercial DNA chips from Affymetrix in Santa Clara that can quickly spot thousands of genetic variations in a single sample. Later on, the scientists will look within those chunks of code to find the abnormal genes themselves, which help spark the condition in seemingly healthy infants.
Families pour enormous amounts of time and money into training their children to recover skills that the disorder takes away, or to stop inappropriate, repetitive behavior that is a hallmark of autism.
Pam Barrett of San Jose, who has three children with different degrees of autism, is now working hard to stop one of her identical twin boys from pulling out his permanent teeth.
The first stage of the new study, which is sponsored by the National Alliance at a cost of $2.5 million, is intended to begin sorting things out.
The second more difficult stage, identifying the genes themselves, could cost as much as $15 million and take another three or four years. A large part of the funding will come from the National Institutes of Health, which is a partner with the Alliance in what is being called the Autism Genome Project.
If the hunt for the autism genes is successful, it could become a model for unearthing the genetic contributions to several complex, difficult-to-treat human diseases, including diabetes, schizophrenia, and Alzheimer's. In each case, there's reason to believe that there's a hereditary component, but scientists have yet to identify conclusively which malfunctioning genes are involved. Finding the genes would add a new understanding of what goes wrong in these disorders and could lead to better ways to diagnose and treat them.
```This is science on a grand scale, a model everyone can use for every complex genetic disease,'' said Dietrich A. Stephan of the Translational Genomics Research Institute in Phoenix, which is leading the autism study.
Said Greg Yap, a senior marketing director at Affymetrix, which has worked closely with the researchers: ``We wouldn't want to raise expectations for a cure for autism.'' But, he said, the lengthy procedures for finding the causes of complex genetic diseases have now become a lot quicker.link (http://www.siliconvalley.com/mld/siliconvalley/news/local/9190577.htm)
1 in 166 children... wow, this is more common that I would have guessed.