FOP breakthrough!!

Posted by Karen - October 23rd, 2011

Posted by Karen

A few days ago, I got in my car to drive to an appointment.  Just before heading out, I checked my Blackberry for e-mails, and I saw a message from the International FOP Association (IFOPA) with a title that started my skin tingling: “Genetic Technology Breakthrough”.  I hurriedly clicked on it, and learned that our beloved scientists at UPenn have figured out how to STOP Fibrodysplasia Ossificans Progressiva. (!!!!!)

Even before I had a chance to read any further, I knew this was going to be a big, BIG deal.  This appeared to be probably the most important step to date in FOP research.  I drove to my appointment across town with tears streaming down my face.

It turns out that the scientists used pieces of RNA (genetic material) to go into FOP cells and “lock up” the bad FOP gene so it can’t operate.  They did this using cells cultured from dental pulp extracted from discarded baby teeth of children with FOP (the “tooth fairy/ferry” program, which I have blogged about before).  The article about this breakthrough was published in a scientific research periodical called “Gene Therapy”.  And, in their typically thoughtful way, our scientists summarized the article for a lay audience and published their editorial about it on the IFOPA website.  It’s an easy read, and you can check it out here:

http://www.ifopa.org/en/news-and-events/latest-news1/308-genetic-technology-breakthrough.html

As I had expected would happen, news of this incredible development spread like wildfire through the FOP Facebook group and connections.  There was much rejoicing in the FOP community that day!

But, in fairness, a word of caution…  So far, the researchers have only accomplished this “disabling” of the FOP gene in cells grown in the laboratory.  The technology has not yet been used in people, nor even in FOP mice.  Before it can be used in people, the scientists will have to establish first that it’s safe and effective in animal models of FOP.  Additionally, I understand that there are some technolological hurdles to overcome in accomplishing actual delivery of the RNA material to cells in the human body (different scientists are trying to perfect the technology for use in treating other genetic diseases).  Given all of this, it will still be a number of years before this technology can be used for FOP.

Still…  This is such an exciting development that it takes my breath away.  My dream is a future in which FOP is completely controlled by the simple step of taking a pill once per day, and RNA research is helping make the dream look like eventual reality. 

Some of the people who will benefit from an end to FOP and its complications…

Miranda and Erin McCloskey in September of 2009, both then age 4.

 

 
 

 

3 Responses to “FOP breakthrough!!”

  1. helen munro says:

    Absolutely wonderful news, and as my brother Joe said, “thank god for smart people”..indeed, Drs Kaplan, Shore and others ; keep up the fantastic work!

  2. Julia says:

    That is great news! I hope that the testing goes quickly! I have this wish that when Erin is in high school she will be able to go to the dances with my daughter and their friends and be up there dancing with them!

  3. Shannon says:

    My daughter actually got diagnosed with this yesterday of all things. She was tested back in July and we just got the results. I think God was waiting to let us know after this was published so that we wouldn’t feel so hopeless. I’m trying to process all my feelings about this right now. I started a new blog and wrote a book on it this morning. Check us out at http://fopjourney.blogspot.com/. Thanks for writing about hope!



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