By Biology Editor, Jeanne Garbarino
If a child is diagnosed with autism spectrum disorder (ASD), it is because they have gone through a number of rigorous behavioral tests, often over a period of time, and never straightforward. Of course, this time can be a stressful for parents or caregivers, and sometimes the answers can lead to even more questions. One solution to the waiting and uncertainty would be to have a medical test that could more easily diagnose ASD. However, no one has been able to identify biomarkers – molecules in the body that can help define a specific medical condition – for the condition. Without this type of information, it is not possible to create a diagnostic test for autism.
Having been through this process with their son, who is on
the autism spectrum, Clarkson University scientists Costel Darie and Alisa
Woods have decided to work together to help address this issue. An interdisciplinary laboratory that combines
hardcore proteomics (the study of the proteins we make) with cognitive neuroscience is probably not what you think
of when it comes to running a family business. But for Darie and Woods, “marriage” has many meanings. This husband and wife team has combined their
brainpower to embark on a scientific journey toward understanding some of the biochemistry behind autism, and
they are walking on an increasingly popular path to help finance their work: crowdfunding.
A major goal of the Darie Lab is to identify biomarkers that
are associated with autism and then to create a medical test to help alleviate
some of the frustrations that come with the ASD diagnostic process. Using a technology called high-definition
mass spectrometry, the Darie Lab has outlined a project to figure out the types
of proteins that are in the saliva or blood of children with ASD and compare
these protein profiles to the saliva or blood from children who are not on the
autism spectrum. If the Darie Lab is
successful, they might be able to help create a diagnostic test for early autism
detection, which would undoubtedly fill a giant void in the field of autism
research and treatment.
Here is how the experiment will work: The members of the
Darie Lab will collect saliva (and/or blood) samples from children, half of whom are on the
autism spectrum and half of whom are not. The researchers will prepare the saliva or blood and collect the proteins. Each protein will be analyzed by a high
definition mass spectrometer, which is basically a small scale for measuring
the weight and charge of a protein. The
high definition mass spectrometer will transfer information about the proteins to a computer, with special software allowing the Darie Lab investigators to figure
out the exact makeup of proteins in each sample.
The bottleneck when it comes to these experiments is not
getting samples (saliva and blood are easy to collect), and it isn't the high-tech
high-definition mass spectrometer because they have access to one. Rather, the bottleneck comes from the very
high cost of the analytical software they need. Because this software was not included in
their annual laboratory budget but is critical to conducting this experiment, the
Darie Lab is raising
money through crowdfunding.
Why I think a contribution is worth the investment: Technology
is always advancing, especially when it comes to protein biochemistry. The high-definition mass spectrometer is a
recent technology, and according to the Darie Lab, they have been able to
identify over 700 proteins in the saliva alone. This is quite an incredible step up from traditional mass spectrometers,
which could detect only around 100 proteins in saliva. Just because we haven’t been able to identify
biomarkers for autism in the past doesn’t mean we can’t do it now.
In addition to the use of this new technology, the Darie Lab presents some compelling preliminary evidence for a difference in protein profiles between those with ASD and those who do not have ASD. While they’ve examined only three autistic people and compared them to three non-ASD individuals, the two groups were clearly distinct in their saliva protein profiles. If this pattern holds up with an increased number of study participants, the implications could be quite significant for autism research.
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Preliminary data from the Darie Lab shows that there are saliva proteins showing a 20X or greater
difference between ASD (ovals) versus sibling non-ASD controls (rectangles). |
If you are looking for a good cause, look no further. I am excited to see how the Darie Lab crowdfund experience goes, and I wish them all the best in their quest, both as professionals and as parents. To find out more, or to make a donation, visit the Darie Lab RocketHub page.
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Fluorescent images of the brain, available to those donating $100 or more. |
The opinions expressed in this post do not necessarily agree or conflict with those of the DXS editorial team and contributors.
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