Recently, Dr. Worthey in partnership with Dr. Shriberg found an issue in the genes of eight of ten children studied that have Childhood apraxia of speech (CAS).
Using whole exome sequencing, the scientists determined that multiple genes are involved in the cause of CAS, which can severely interrupt a child's cognitive and learning process. They found that the primary problem in the genes was deletions within the nucleotides.
Up until now, only a few genes had been associated with CAS, but until whole exome sequencing was done, scientists could not see that it was multiple genes acting together causing the disorder versus individual genes.
Using whole exome sequencing has proven to possibly be the best way to study some disorders versus trying to study individual genes looking for the cause. And the best part, it's cheaper and more time efficient than single gene sequencing.
Can you think of any other disorders than are already associated with a few genes that would benefit from having whole exome sequencing done to see all of the genes involved?
Here's the link:
Next-gen sequencing identifies genes associated with speech disorder
From what I remember, there was a syndrome called Cri du chat syndrome that causes the under development of the larynx. Hopefully this syndrome can also be looked into because it is also caused by a deletion.
ReplyDeleteI think I remember learning about that in genetics. Nice example!
DeleteI wonder how rare this disorder is because the sample size is really small. Or maybe that was purposely done to test the efficiency of the new method? Either way, it seems as though this technique has a lot of benefits.
ReplyDeleteI've never heard of it until now, and it seems to have some of the same symptoms as other speech disorders. I would guess that it is either rare or new.
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