06 February 2012

CF Research in Dallas

Last week, I had a wonderful opportunity to attend an event put on by our local Cystic Fibrosis Foundation chapter.  I was most interested in attending the event because it was going to give me an opportunity to see the CF research in real life!

At the beginning of the meeting, Bennett's CF doctor, Dr. Cannon, spoke about her current research at University of Texas' Southwestern Medical Center.  I *love* listening to Dr. Cannon speak as she is incredibly knowledgeable of the most current research.  This is one of the reasons we changed Bennett's care to Children's Medical Center in Dallas.  When Brian and I heard Dr. Cannon speak about a year ago, we were hooked and wanted her to care for our child too!

While at the event, it was fun to meet a CF mom I keep in touch with via Facebook.  Susan has a 16 month old daughter who has CF.

After a short presentation, we were off for a tour of the lab to find out what research is being done to help find a cure for Bennett.

We got to see frozen human cells that the researchers use to do experiments on.  These petri dishes are kept at a chilly -80 degrees!

Zemfira Karamysheva, a researcher in the lab, spent about 30 minutes explaining to us about her research, which she really enjoys working on.  She works with amino acids and the CFTR gene.  Unfortunately, I have no idea anything else about what she does.  Between my limited understanding of microbiology and her thick Russian accent, this was as far as I got. :)  Even still, the message I understood most clearly: she is working to better understand what isn't working in my son's body.

One of my most favorite opportunities was getting to watch a really cool 3-D moving image of the CFTR gene, which is where the Cystic Fibrosis mutation has gone wrong.  It is hard to see but the tiny red dot next to the yellow spiral is the DF508 CF mutated gene.  The scientist we worked with tried to use it to explain why the DF508 gene is to difficult to get to - because it's buried in the CFTR gene (we joked about how the white part of the gene is like the brain and the colored spirals are like the spine - both are difficult to access but it's certainly worse for a gene's malfunction to be located within it, rather than in the spiral things where it can be more accessible to fixing).  I also learned more about the letters at the top of the screen.  the DF508 is located within the NBD1 area (the white part).  Bennett's other mutated gene (Cystic Fibrosis patients have CF because they have two mutated genes) is 621+1G>T.  This is gene is located within the "R" (the purple part).  While this information isn't necessarily important to me, it is important to the scientists as they are trying to locate and understand each of the 1800 genes in order to fix them.

I found Dr. Andrey Karamyshev's work to be very interesting.  He is an assistant professor at the University of Texas Southwestern Medical Center in Dallas whose research interests are the CFTR gene and Cystic Fibrosis.  He explained there are about 20 labs in the US doing research on CF at any given time.  Dr. Karamyshev explained that scientists working on cells typically use cancer cells because they quickly regenerate, unlike healthy human cells.  I guess there's is one reason I can be thankful for cancer.

Dr. Karamyshev recently released a study on the Proteins That Interact With CFTR During Translation, which he presented at the North American Cystic Fibrosis National Conference two years ago.  I didn't try to have him explained what he learned.

I had hoped my reading his conclusions would help explain it in layman's terms later.  It didn't. :)

The reality was I walked away with very little information I understood.  But that doesn't mean I walked away with little information.  Instead, I left the CF event so excited to see real life research to find a cure for Cystic Fibrosis going on in our backyard.  I am so encouraged that people go to work every day working with ridiculously complicated subjects, all in hopes of figuring out how to solve why the CF genes aren't working properly.  Next year, though, I'm bringing Brian (who has a bachelor's in microbiology).  Not only do I think he would have *loved* to have discussed this stuff with the researchers, I know next year I might have a chance of his translating for me what the heck they are talking about. :)


  1. Hey sweet friend! There is absolutely no pressure, but I just wanted you to know if there's ANYTHING you need while you're in Dallas for visits and appointments, please don't hesitate to call me. I'm here for you. Your words are beautiful and have blessed and taught me so much. I continue to pray for you (and stalk you on your blog and pinterest!) I WILL get to Waco (it's been a tiring couple of months) but Ben's company just got the job for the new Baylor stadium so he'll be making several trips out there and I'll tag along sometime! Love and miss you kitchen cutie!

  2. Hi Breck, it was wonderful to visit with you too! I am so inspired by your blog, your spirit, & especially by Bennett. At one year older than Eva, he is her torch bearer! I can't way that I can interpret much more than you did, but I know I am grateful for the researchers' diligence, patience, & quest for knowledge about CF. As we said when we departed, we will keep them as well as possible until their work is done! Love to you all, XO, Susan

  3. Wow - this is really fascinating! I wouldn't understand a lot of it either, but it's so awesome that you had the opportunity to see a bit of what's going on!

  4. I came across your blog while doing research for I am giving on CF. My cousins daughter who just had her 10th birthday has CF & I am a carrier. Our family like a lot of others also has the Delta F508 mutation.

    I found your sons story very inspirational. What a blessing from God. Your family and all others dealing with CF will be in my family's prayers!

    God bless you,


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