“What I can say is that structural changes, and in particular CNVs, may indeed be responsible for a lot of sporadic disease given the fact that locus specific mutation rates for CNV mutations can be 100 to 10,000 times more frequent than locus specific mutation rates for single base pair changes or SNPs (single nucleotide polymorphisms). It may also be that the nervous system in particular is more susceptible to copy number changes than other biochemical pathways, or networks of interacting proteins in different physiological systems, within the body.”

“Larger studies and extensive clinical validation will help to identify miRNAs that have true diagnostic value. From our experience and published reports, microRNA profiles have appeared to be more useful in terms of their diagnostic value than messenger RNA profiles. The fact that miRNAs are stable in FFPE (formalin-fixed paraffin embedded) tissue samples opens up a wider array of available diagnostic specimens for such validations. Poor stability of messenger RNA in FFPE samples and the ability to amplify it has been an issue for doing such kinds of transcriptomic studies. Being able to go back to older archived tissues from patients with known clinical outcomes obviously allows you to do the kinds of studies that are needed to validate the diagnostic and predictive value of a particular profile. Recent advances in technology for detection of microRNA have pushed the ability to detect levels from even a single cell so even samples with limited material are possible to evaluate now.”