How will we investigate the genetics of stuttering?
Finding Genetic Variants
In the Genetics of Stuttering Study, we are looking to find single base changes in the genome that occur more often in people who stutter, compared to people who do not stutter.
These single base changes are known as Single Nucelotide Polymorphisms, or SNPs for short.
Looking for patterns
We will look at SNPs in a large group of people - some of whom will stutter, some of whom will not.
We will measure the bases, at each SNP in this set of people and look for differences in those who stammer compared to those who do not.
In this example of a single SNP, we can see individuals who stammer have more C bases; whilst those who don’t stammer have more T bases.
Is that all there is to it?
That all may sound straightforward, but we plan to examine millions of these SNPs, across thousands of individuals - that is a lot of data to deal with!
We will need to use a combination of statistics, programming and high performance computing to work out which SNPs are most likely to have a role in stammering. We will then have to draw from biological knowledge to interpret what these associations actually mean.