Common Mutation Types

While patients tend to talk about mutation as deletion, addition or substitution of DNA letters. The geneticists categorize genetic mutations based on the effect it has on the proteins. 

The common mutation types are: 
- Nonsense

- Missense 

- Splice site 

- Frameshift  

- In frame deletion \ addition 

Do you want to learn more ? 

We created an animated video with basic information about the different mutation types. Also covering the basics of genes, de novo mutations and how a defective gene can cause a genetic disease. 
 

Find your exact mutation type

Follow the instructions over here:  How to find your mutation type
 

Different mutations have different therapeutic strategies 

Different mutations have different therapeutic strategies 

Looking at the existing drugs used to treat genetic diseases, we can see many of which target specific mutations within the gene. The technologies we have to cure genetic diseases are suitable for only certain types of mutations. 

The therapeutic strategies for nonsense mutations are unique to this mutation type and it's not related to a specific gene.  This is the basis to our foundation - we promote a cure for all nonsense mutations across all genes.