Gene therapy for 22Q deletion syndrome


22Q is another argument in favor of accelerated application of CRISPR.  There are 4,000 rare genetic conditions out there and this is one that I’ve come into contact with twice, in a cousin’s daughter (I think) and the daughter of a friend from back in the day (definitely).  So it’s prevalence is more than not.  Estimates range from 1:2000 to 1:4000 births.

In my old friend’s daughter’s case, the most threatening complication is that she has, at age 7, required several heart surgeries.   This is the most challenging aspect.  It also comes with learning disability.  My old friend’s daughter just celebrating being placed in a general population 1st grade class.

It’s fair to ask what has been done in the gene therapy realm for this.  Answer: Nothing. Some money is being spent on genetics.  My Google search hasn’t come up with anybody trying to cure it directly with gene therapy, however, and only opportunistic fixes exist for complications that result (heart surgery for example).

So, deep-pocketed gene therapy aficionados, if you’re out there: this is an application waiting to happen.

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