Autism and autism spectrum disorder (ASD) are both umbrella
terms for a group of brain development disorders. People affected by autism
usually have difficulties with social interactions, verbal and nonverbal
communication and repetitive behaviors. Autism can be linked with intellectual
disabilities, but there are some people who display exceptional abilities in
areas such as visual skills, music, math, etc. The signs and symptoms of autism
often present themselves in the first 2 to 3 years of life even though it is
thought that autism affects early brain development. These disorders are
generally more common in boys than girls and studies have shown that 1 in 68
children are diagnosed with one of the autism disorders.
Autism Speaks has funded an autism genome study that is the
largest ever study of its type. The data collected during this study was part
of approximately 1,000 autism genomes that were uploaded to the Autism Speaks
MSSNG portal. The publication of these genomes into an open-science database
marks the first time that whole genome sequences will be available for
research. It is hoped that this will be the future of genomics and that more
and more genome studies will be uploaded into open access databases, so that
personalized treatments for many developmental and medical disorders can be
discovered. The creators of the MSSNG project plan to make up to 10,000 autism
genomes accessible for research.
The study sequenced 340 whole genomes from 85 families that
each had two children with autism. It found that 69% of siblings had little to
no overlap in gene variations known to contribute to autism. Only 31% of
siblings shared the autism associated gene changes. These results are
astounding as it was previously believed that siblings with autism were
inheriting the same autism predisposing genes from their parents. It now seems
that this is not true. Scientists always knew that there were a great deal of
differences in autism, but the findings of this research really pinpoint this.
The medical implications of this study are enormous. It has
been realized that doctors should not just be looking for suspected autism risk
genes, which is what is typically done in diagnostic genetic testing. A
complete assessment of a person’s whole genome is needed in order to determine
how to use knowledge of genetic factors to treat autism. Whole genome
sequencing provides more information than traditional genetic testing and seems
to be the future of genomics.
I think that this study is fascinating as it seems to be
revolutionary and likely to contribute more pertinent information to families
with autistic children. Autism can often pose challenges to families and if
more effective, personalized treatments arise from this study then that would
be great. While this study provides hope for those with autism, it also
provides hope for the future treatment of other genetically linked disorders
and diseases. I also find it to be intriguing that for so long scientists had
the notion that siblings with autism would have the same autism associated gene
changes and now they know that is not really true for the most part. It makes me think of how
powerful research is and how a long held belief can seemingly be changed in an
instant.
Link to Article: http://www.sciencedaily.com/releases/2015/01/150126124604.htm
Additional Links:
http://www.autismspeaks.org/what-autism
Great article! I read this myself on the Autism Speaks web site. My brother has Down syndrome with ADHD and autistic tendencies, and dealing with him and several other classmates/peers of his, I absolutely agree that there must be different genes for different forms of autism. There should be different programs designed for these children (and adults!) to compliment their abilities and shortcomings. We have noticed over the years that many schools and day programs bulk them up into the same environment, which can be harmful to their growth process and educational abilities. Thanks for posting!!
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