So I was thinking about topics to write about for this month–smartphone/hearing aid connectivity, Auracast Bluetooth, changing hearing loss demographics…when I came across this article, “Experimental gene therapy allows kids with inherited deafness to hear.” Problem solved!
Let me start by saying, this is SO cool! Treatment literally at a genetic level. I’ve been following gene therapy for years and find it fascinating. I’ve read about gene therapy breakthroughs for other health issues such as sickle-cell disease, Tay-Sachs disease and hemophilia. But let me be clear, I have no expertise in it whatsoever, so please don’t call my office for advice about gene therapy
Gene therapy produces its therapeutic effect fixing or replacing ‘defective’ genetic material by manipulating/modifying the genes. This is done in one of three ways:
Ex vivo –modifying target cells removed from the patient & injecting them back into the patient’s body (particularly good for treatment of blood disorders/diseases such as sickle-cell or hemophilia)
In vivo –the therapeutic “vector” (delivery system for the modified gene, typically a benign virus), is injected into the blood (or cerebrospinal fluid) for the body to transport it where it needs to go.
And finally,
In situ -the therapeutic “vector” is injected into a specific organ or area of the body.
The research highlighted in the article used in situ delivery. The scientists in China and Philadelphia (independently) were targeting a very rare form of inherited deafness caused by a defective gene. The gene is responsible for the production of an inner ear protein called otoferlin, which is critical in the neural transmission of sounds to the brain. The kids in the study were born deaf because their bodies don’t produce otoferlin. The researchers delivered a DNA ‘patch’ for the defective gene by attaching it to a harmless virus and injecting it into the inner ear. The one-time therapy delivered the DNA ‘patch’, causing these children to begin producing otoferlin for the first time. The children went from being profoundly deaf, with no awareness of sound, to being able to hear a parent say “I love you” for the first time! How cool is that?!
So does this mean that hearing loss is cured and I should pack up the office and look for something else to do? As much as I hope that one day I’ll be out of a job, we’re still a long ways away from that goal. Maybe in my lifetime? Hope so, honestly. I’ve been to a LOT of concerts! But as amazing as this is (and don’t get me wrong, it totally is!), it helped six (out of seven) children get hearing roughly “60-70% of normal”.
This is legitimate progress though, real proof of concept, certainly in regard to the hurdle of a delivery mechanism (the “vector”) that can reach and affect the inner ear without apparent complications. This research, and that which follows, are steps in that journey. Well done, Science!
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