Gene controlling brain nerve connections linked to autism
Researchers at Hopkins who are leading an international team have identified genes that may contribute to autism. Prior to these findings, attempts at linking specific genes with autism have had limited success, even though some studies suggest that the disorder may be inheritable.
The findings were made through a collaboration called the Gene Discovery Project between Hopkins and the Autism Consortium, and involved Aravinda Chakravarti and Dan Arking of Hopkins's McKusick-Nathans Institute of Genetic Medecine, Mark Daly and Lauren Weiss of the Center for Human Genetic Research at Massachusetts General Hospital and the Broad Institute of MIT and Harvard.
The study analyzed samples of half a million genome markers, or single nucleotide polymorphisms (SNPs) from the Autism Genetic Resource Exchange, the Autism Consortium in Montreal, the Autism Genome Project and the U.S. National Institute of Mental Health.
"We were greatly helped in our research by having family samples from numerous autism support organizations," Chakravarti said. Chakravarti is a professor of medicine, pediatrics, molecular biology and genetics at the NcKusick-Nathans Institute of Genetic Medicine at Hopkins. Samples also came from Finland and Iran.
Although the technology available to analyze large amounts of data from thousands of human genomes has improved significantly, even compared to five years ago, there are still limits.
"[The] powerful technologies that we, as a member of the human genetics community, developed are now finding routine use, but it is frustrating that these technologies have not yet higher resolution," Chakravarti said.
The team read the genomes of family members of individuals diagnosed with a form of autism and studied 1,031 nuclear families and 1,553 autistic children in all. Through meta-analysis, it was found that the semaphorin 5A protein is significantly less present in autism brains than in non-autism brains.
The findings were made through a collaboration called the Gene Discovery Project between Hopkins and the Autism Consortium, and involved Aravinda Chakravarti and Dan Arking of Hopkins's McKusick-Nathans Institute of Genetic Medecine, Mark Daly and Lauren Weiss of the Center for Human Genetic Research at Massachusetts General Hospital and the Broad Institute of MIT and Harvard.
The study analyzed samples of half a million genome markers, or single nucleotide polymorphisms (SNPs) from the Autism Genetic Resource Exchange, the Autism Consortium in Montreal, the Autism Genome Project and the U.S. National Institute of Mental Health.
"We were greatly helped in our research by having family samples from numerous autism support organizations," Chakravarti said. Chakravarti is a professor of medicine, pediatrics, molecular biology and genetics at the NcKusick-Nathans Institute of Genetic Medicine at Hopkins. Samples also came from Finland and Iran.
Although the technology available to analyze large amounts of data from thousands of human genomes has improved significantly, even compared to five years ago, there are still limits.
"[The] powerful technologies that we, as a member of the human genetics community, developed are now finding routine use, but it is frustrating that these technologies have not yet higher resolution," Chakravarti said.
The team read the genomes of family members of individuals diagnosed with a form of autism and studied 1,031 nuclear families and 1,553 autistic children in all. Through meta-analysis, it was found that the semaphorin 5A protein is significantly less present in autism brains than in non-autism brains.
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posted 3/27/10 @ 1:40 AM EST
That looks like lots of fun. When I was in college we didn't had so many fun activities.
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