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Tero Toivanen

Research on the genomics of autism from the Center for Biom - 0 views

  • Research on the genomics of autism from the Center for Biomedical Informatics at The Childrens Hospital of Philadelphia indicated that several genes and genomic variants contribute to autism. The gene alterations are rare but when they are in play, they seem to disrupt genes that are significantly involved in brain development and nerve signaling.
  • According to the September 15, 2010 issue of Science Translational Medicine, males with certain DNA alterations to their X-chromosome are at high risk of having autism.
  • This research was performed at the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), in Toronto Canada.
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  • One percent of boys with autism involved in the study had mutations in the PTCHD1 gene on the X-chromosome. No boys without autism showed this mutation.
  • Girls who also had this mutation did not seem to exhibit autistic traits. It appears that girls may be protected from developing autism because they have a second X-chromosome.
  • Still these girls could be carriers, passing on the mutation to their children. Their sons could then have autism.
  • Certain rare genetic variants were found 20 percent more in children with autism than in other children. Researchers also discovered new disruptions, where a child of non-autistic parents had autism.
  • t appears that some children have private genetic mutations not passed on genetically, and this leaves them more susceptible to autism.

    Interestingly, each child showed a different disturbance in a different gene.

  • Researchers hope to gain more information as they identify groups of disrupted genes. Ultimately they hope to be able to develop treatments for autism.
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