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Rare Gene (nonsense) Mutations

Approximately 10% of people with cystic fibrosis have rare gene (nonsense) mutations. Within this 10%, there are further breakdowns as to how and why these nonsense mutations may or may not respond to the currently available CFTR modulators*. As an example, some people with cystic fibrosis may not produce any CFTR protein, meaning CFTR modulators will not work.


Research is being undertaken globally to see how nonsense mutations may be corrected.


We are delighted to welcome three researchers currently investigating rare gene mutations within the field of cystic fibrosis to our upcoming Consumer Connect session - Prof Adam Jaffe, Dr. Shafagh Waters & Prof Peter Wark.


Cystic Fibrosis Australia CEO, Jo Armstrong, will host the session as the panel discuss what are nonsense mutations, how they differ from the ‘more common’ mutations, why these genes are difficult to treat and diagnose, and what the future holds.


This is a great opportunity to submit any questions you have and find out more about Rare Gene (nonsense) Mutations.


*Cystic Fibrosis transmembrane conductance regulator (CFTR) modulators therapies are designed to correct the malfunctioning protein made by the CFTR gene.

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