Editing Gene Mutations (section)

== Healing This ==

[[File:Screenshot Decibel Tx Pipeline.png|thumb|Decibel Tx's Pipeline shamelessly nicked before Regeneron hosed their site]]

[https://web.archive.org/web/20240520184817/https://www.decibeltx.com/pipeline/ Decibel Therapeutics has a novel gene therapy in hearing regeneration for another gene, the one that produces Otoferlin]. That particular treatment is a little 'easier', in that it's a thing that enables a calcium sensor to release neurotransmitters that send the nerve signal. If that's broken it doesn't matter how long so long as it's fixed.

While some treatments have shown promise even in adults, the Decibel Tx (now Regeneron) treatment was administered in babies. So there's some promise that the technique of targeting the cells and fixing the DNA works.

That means that eventually, the AAV.103 GJB-2 treatment they have in the pipeline might well work if it is able to deliver the fixed gene to the stereocilia.

The actual treatment is out of science fiction:

# An adeno-associated virus (AAV)<ref name="aav" /> is supplied with a functioning version of the gene, split into two parts<ref name="otof-split" /> with an overlapping section
# It is injected into the ears of the patient
# It goes in and puts the fixed gene segments into the cells with the usual protective cap on it (called a capsid)
# The capsid degrades
# The two parts come loose and sit there in the cell
# The cell's DNA repair function kicks in, sees what it interprets as a broken DNA stand and puts it together<ref name="homologous-recombination" />
# For OTOF, this fixes the calcium sensor. For GJB-2, perhaps it's early enough and it enables the gap junction<ref name="gap-junction" /> and the potassium ions flow out.

GJB-2 is actually easier, in that it's a smaller gene, so maybe they'll find it easier to productionize, but perhaps this isn't the hard part.