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Autism testing could find CHD8 gene mutation at birth

Lana Bandoim's picture

A researcher who worked on the CHD8 gene mutation study believes that testing at birth for autism is possible and suggests it may one day extend to testing during pregnancy. Dr. Raphael Bernier believes that better treatments will also be possible thanks to an improved understanding of genetics. His words are giving families hope for an improved medical future.


Scientists have spent years trying to find a connection between genetic mutations and autism. A study published in the journal Cell mentioned the CHD8 gene mutation as a possible indicator that the person will have autism. CHD8 is responsible for coding a protein that is involved in chromatin formation. Although the gene can be found in all cells, the mutation seems to be having a strong impact on the brain. Researchers also explain that there are physical characteristics such as a larger head connected to the mutated gene.

Dr. Raphael Bernier recently told KOMO News that the research should give people a chance to diagnose autism earlier. He expects that a test for the CHD8 gene mutation will be created and will allow families to find the condition faster. It may take time for this to become a reality, but there is also hope for people who are already diagnosed with autism. The researcher mentions that the treatments could be improved based on genetic results. It has been suggested that medications could be adjusted on a molecular level to help people.

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Some scientists believe they can create targeted management plans for autistic people based on their genetics. It is possible that the medical landscape will change dramatically as more information becomes available about specific mutations and how they affect health. Researchers continue to work on identifying other genes that may be linked to autism, and they are optimistic about the future.

Read more about autism:
Medicaid coverage of autism services ordered by CMS
Head size in autism questioned by new research

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