Closing the Gap: Is Gene Therapy Our Future?

There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation:

  1. Which one of us gave it to him (or was it both of us)? – and
  2. Why can’t they just replace the gene with the correct one?

While the answer to the first question may be easier to answer for certain diseases and disorders such as hemophilia and color blindness, others are not so obvious. Does it even really matter?  Both of our children have it and while that in itself is extremely rare, it doesn’t change how we treat it or how we go forward with our research. The second question, however, it just a little more complicated.

For many people, when they hear the term genetic mutation, a picture of X-men may come to mind.  For others, they may bring up images of two-headed frogs or disfigured children from the Chernobyl accident.  But not all genetic mutations are so obvious, and a small percentage of mutations are not even harmful at all.  So when a child is born with a genetic mutation that causes a disease, one potential treatment that is being tested with today’s technology is something called gene therapy.  Gene therapy, in essence, is an experimental treatment where new genetic material is introduced into the body by the way of a vector, the most common being viruses that have been inactivated.

When a disease is caused by a single genetic mutation, that is, one specific gene has a mutation at a specific location, it is considered a monogenic mutation.  This is what our kids have.  Their type of diabetes is caused by a single mutation located on the gene that tells the potassium channel how to act.  In their case, the channel remains in the open position, where a normal person’s potassium channel will open and close in response to the amount of sugar in the blood stream.  Hence the title of this series, Closing the Gap. One thing that has intrigued me through the years of dealing with this is the possiblity of gene therapy.  Why can’t it be just as simple as going into the cells and replacing the mutated gene with the correct gene?

According to Gene Therapy Net, there are currently 248 clinical trials for disorders and diseases with a monogenic cause (what our kids have).  The bulk of these clinical trials are treating well-known disorders like cystic fibrosis, hemophilia, muscular dystrophy, and severe combined immunodeficiency (SCID, aka “bubble baby syndrome”). There are scatterings of other diseases and disorders, but I doubt ours will be on any doctor’s radar for a clinical trial of gene therapy any time soon.  One of the most surprising discoveries I found was that the vast majority of clinical trials are happening in the US alone (over 1500)! While that is encouraging, gene therapy is still very much in its infancy, but at least those big pharmaceutical companies are starting to take notice and put their money into research and development.  There are conferences taking place all over the world now with some speakers from well known companies such as GSK (GlaxoSmithKline), Pfizer, and even a division of GE Healthcare.

So maybe we are still years out from being able to use gene therapy for our own kids, but at least science is starting to move in that direction.  Maybe one day, I will put my own passion to work and discover a way to join the ranks of the scientists and work toward fixing that gene.  Who knows, maybe the future is not so far away after all!

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