After the collaboration of 13 institutions, researchers discovered an autism specific gene. They studied 6,176 children with autism spectrum disorder and found 15 who carried the CHD8 mutation, they had similar characteristics in appearance, issues with sleep disturbance and gastrointestinal problems.
To confirm the findings, researchers worked with scientists who do zebra fish modeling. The researchers disrupted the CHD8 gene in the fish and the fish developed large heads and wide set eyes. They then fed the fish fluorescent pellets and found that the fish had problems discarding food waste and were constipated.Using this research, scientists hope to change the way autism is approached, rather than diagnosing based on behavior, they hope to use genetic testing to identify and hopefully treat autism.In my opinion, this kind of research is extremely useful. It's a sure way to avoid misdiagnosing a person and who knows how much they will be able to advance the research. It may lead to genetic treatment for autism.
Source
http://www.sciencedaily.com/releases/2014/07/140703125851.htm
Secondary
http://www.medicaldaily.com/what-causes-autism-rare-mutation-chd8-gene-may-be-responsible-autism-subtype-291602
I think that this research is extremely interesting. Having a sister with autism I would absolutely love to see a cure or even something to help autistic children and adults function would be great.
ReplyDeleteIt always amazes me the way genes are expressed phenotypically. I find it very interesting the researchers ability to highlight the similarities in appearance and function of the CHD8 gene between two different species and show its link to autism. I hope these findings can help in the diagnosis and treatment of the disease.
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