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SPARK it up

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You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158

 

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The sticky subject of cost effectiveness

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In a perfect world, money would not matter.  But in this world, it does, and a dollar spent on one thing in the clinic by families, society and insurance companies means a dollar not spent somewhere else.  Therefore, studies on cost effectiveness need to be conducted to determine how resources may be best used.  In this podcast, Dr. Tracy Yuen of University of Toronto explains two different analyses which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.  Thank you to Dr. Yuen for explaining the process behind this and these intriguing findings.  You’ll have to listen to find out what they are.

 

https://www.ncbi.nlm.nih.gov/pubmed/29651777

 

https://www.ncbi.nlm.nih.gov/pubmed/29644584

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Where the wild new genetic hot spots are

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Three new studies, all with the common element of inclusion of ASF postdoctoral fellowships as authors, appeared this week using whole genome sequencing technologies to look at new areas of the genome.  Not just new genes, but totally unexplored ares of DNA that were only possible to examine through these newer technologies.  They are called regulatory non-coding regions, because they regulate genes known to be associated with autism – but don’t code for any proteins.  Interestingly enough, they are carried by the unaffected father.  As one of the authors on the studies and guest on this podcast, William Brandler explains, they regulate genes, they don’t cause autism, otherwise the non-affected fathers would not be non-affected.  Another ASF fellow, Donna Werling, published an analysis which called for careful consideration of the statistics around these findings.  After all, this is a relatively unexplored territory.

 

https://www.ncbi.nlm.nih.gov/pubmed/29674594

https://www.ncbi.nlm.nih.gov/pubmed/29703944

https://www.ncbi.nlm.nih.gov/pubmed/29700473