Gene Therapy

In my other life I was a scientist, first studying medicine and then doing a PhD in gene therapy. My thesis, which may or may not change the world, is titled “Gene Therapy for alpha-1-antitrypsin deficiency” and I finally finished it in August 2016 to concentrate on a career in music.

Gene therapy is an experimental technique which is gradually finding it’s way into clinical practice. Definitions of gene therapy vary, but ‘using genetic material to treat a disease’ is a good place to start.

My research was with the UK Cystic Fibrosis Gene Therapy Consortium, who have spent the past 15 years trying to find a way to treat the genetic disease cystic fibrosis. Finally we’re starting to see clinically meaningful results, and you can read about a recent successful clinical trial here.

For my PhD I was concentrating on another lung disease, alpha-1-antitrypsin deficiency. In this genetic condition, a faulty gene leads to the loss of a protein (alpha-1-antitrypsin) which protects the lung from damage. Loss of this protein predisposes patients to lung disease, reducing life expectancy; and there are currently no effective treatments.

I’ve been experimenting with different ways of putting the correct version of the alpha-1-antitrypsin gene into the body, which would counteract the effect of the faulty gene. One way of getting a gene into the lung is to wrap it up in fat droplets; this was the technique used in the recent cystic fibrosis clinical trial.

Another approach is to use nature’s way of getting genes into cells – viruses. The viruses we use in gene therapy are highly modified, with all the nasty bits (which make it replicate and infect other people) stripped out. We can then insert a ‘normal’ copy of the gene into the virus, administer it to the lung, and see if the correct version of the protein gets produced.

I’ve been using a virus called rSIV.F/HN-hCEF-sohAAT – buy me a pint and I’ll tell you what all the different bits of that name mean. The results are getting published soon, so you’ll have to wait with baited breath… but check back here soon, and I daresay you’ll find everything you ever wanted to know about gene therapy for alpha-1-antitrypsin deficiency, and then some.

If you’re interested in gene therapy, click here to read a history of this relatively new scientific discipline.

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