Exon Deletion 3-7

Connect with other families with exon deletion 3-7.

Location: Derry, New Hampshire (You are Welcome to Visit)
Members: 29
Latest Activity: Nov 2, 2018


Daughters of Carrier Moms

Started by Colin McKenzie. Last reply by Colin McKenzie Jun 13, 2011. 2 Replies

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Comment by KATHY TURNER on October 28, 2009 at 8:30pm
I'm looking at the Dystrophin Gene diagram that Annemieke Aartsma-Rus had at the June conference. The belief is that if you can change an out-of-frame deletion to an in-frame (where one fits into the other) deletion, that this would somehow mimic a form of Becker rather than DMD. Based on the diagram, if you're missing exons 3-7, then skipping 8 would change the deletion to an in-frame type. The same is true if you're missing exons 6-7, skipping 8 would change the deletion to an in-frame type. If you're missing just 7, them I'm unsure if skipping 8 would help because 7 is shaped differently than 3, 4, and 5.
Comment by Jeni Ward on October 28, 2009 at 6:24pm
I don't know if it's different if it is just one exon skipped. We haven't seen Dr. Wong yet, but hope to at some point in the next year. But I am hoping skipping 8 will help Colin.
We (DMD families) are meeting with some researchers here in Seattle in February, and I think one is from the company working on exon skipping. So maybe I can find out more about skipping exon 8. I will let you all know.
Comment by Tagni McRae on October 28, 2009 at 4:40pm
Graeme has deletions of 6 and 7 and I think Dr. Wong told me that skipping 8 would be beneficial. I thought that the same was true for 3-7, but I am definitely not a medical expert!
Comment by Jeni Ward on October 28, 2009 at 4:32pm
We are new to this, but I am hoping for something else to come along for Colin. I don't even know if skipping of Exon 8 would treat his deletion, Exon 7. I think maybe both 6 and 8 would need to be skipped. I don't know.
But I was hoping that once exon 51 skipping started up, the rest would come fairly quickly. I will advocate for 8 if there is a way to do that!
Comment by Wendy Bertellotti on October 28, 2009 at 4:10pm
not paranoid at all...we spoke to researchers in Australia and they said exactly what you write. We need to push for all group treatment, but how?
Comment by Tagni McRae on October 28, 2009 at 12:07pm
WIth the news that GlaxoSmithKline may be pumping more than $600 million into exon-skipping research, I'm wondering if there's anything as a group we can do to encourage research on skipping exon 8. Seems like Pat and PPMD are encouraging regulatory agencies to approve all the exon-skipping drugs as a group, rather than having them have to do trials for each exon. I heard at the conference that our deletion is about 9th or 10th most common, so I worry that despite the gains and promise of exon-skipping therapies, it might be too late for a less common deletion. Or am I being the paranoid mother again?
Comment by Jeni Ward on August 25, 2009 at 3:03am
I am not sure if I "belong" in this group. My 4- year old son was diagnosed less than one month ago. He has a deletion of only exon 7. I haven't really heard of anyone else missing exon 7. So this is as close as I could get.
I did find out that I am a carrier as well. We are in Seattle, but hoping to meet with Dr. Wong in Cincinatti in the near future, as we were not very happy with our first appointment here.
Comment by Don Cooley on June 23, 2009 at 10:07am
Hi my name is Kathi Cooley and I have a 13yr old Son with DMD with a 3-7 deletion. We also have 10 yr old twin girls. We are taking the entire family to the Atlanta conference and I wanted to see if any of you wetre doing the same so we could make sure to meet at some point thruout the weekend. We will be staying at the conference hotel so if you'd like to connect just leave a message at the room...Looking forward to meeting all of you..Kathi Cooley
Comment by Tagni McRae on March 6, 2009 at 12:36pm
Oops--I think I just found them--under the flower? Thanks again. Today is a better day already. No breakdowns at work, at least!
Comment by Tagni McRae on March 6, 2009 at 12:35pm
Thanks so much, Eileen. Where are the articles posted? Sorry I'm new to the format here.

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