Yesterday I Watched a video.Dr olson told crispr.


deletıon of exon: use to crispr and dmd convert to  becker( ıts look like exon skipping)

nonse mutation:same dmd convert to becker

duplication:full cure

but ı am not sure how do full cure or how do dmd to be becker level?

Views: 312

Reply to This

Replies to This Discussion

I suggest you watch this PPMD  Webinar on Gene Therapy for Duchenne.  It is an hour and eight minutes long but does a great job of explaining the current status of this exciting treatment method https://www.youtube.com/watch?v=N7JYTLMDQhM&feature=youtu.be

My understanding is that Dr. Olson's Lab is working to try to bring CRISPR Treatment to our sons at an accelerated rate.  I believe that CRISPR combined with individualized medicine very early in life may be the ultimate cure for Duchenne.  Unfortunately the costs involved may make that impossible and CRISPR treatment is far from ready.  One study found that existing CRISPR experiments introduced hundreds of unexpected DNA modifications.  CRISPR either works by cutting or replacing DNA at points identified by preassigned patterns.  I know from experience in computer and data work that such operations are likely to trigger at unintended points so significant amounts of experimentation are required to weed out unintended consequences.  Additionally the CRISPR model will have to be developed for individual mutations.  As with Exon Skipping mutation specific CRISPR models will have to be developed and tested. Additionally the cutting method of CRISPR is more advanced than the replacement method.  The first CRISPR treatments are likely to involve cutting the Dystrophin Gene to create a smaller and less functional version inside the boys cells.  Despite these obstacles I am certainly excited about the possibilities. It is possible that someday CRISPR treatment will allow babies to receive an IV injection and never manifest any symptoms of Duchenne. I applaud Dr. Olson's work and all the other CRISPR programs that are in development.  

Micro-dystrophin is likely to available to our sons faster and may be more effective.  Micro-dystrophin treatment also avoids much or possibly all of the need for mutation specific development.  The micro-dystrophin treatments do not edit the boys DNA.  Instead they use a virus to cause the Micro-dystrohpin to be created.  The micro-dystrophin is an incomplete dystrophin but in mouse and animal models shows significant improvement that it is hoped will be seen in humans.  There are three trials in the works with one likely starting in 2017 and the others in 2018. The 2017 trail being run by Dr. Mendel at National Children's is stated to involve 12 boys and run for three years.  I am hopeful that the results will be sufficiently successful that larger trials will be kicked off while the phase 1 trial is running.  Each trial is using a different micro-dystrophin candidate that includes different parts of the full dystrophin gene.  It is likely that one of the candidates will provide better results than the others and that future micro-dystrophins will be developed to be even more effective.  Additionally there are questions about what muscles will be effected.  Some are trying to add heart treatment to that of skeletal muscle. These micro-dystrophin candidates are likely the best options for our sons both in efficacy and timeliness. I am incredibly grateful for all the work that has gone into these treatment options long before I understood what muscular dystrophy was.

In the short term.  I am focused on treatment and care options for my son to keep him stable or as close to it as possible while waiting for these mid term and longer term options.  As a start I would encourage you to look into the TAMDMD trial that is occurring in Turkey. I believe that Tamoxifen is one of the most exciting currently available treatment options. Beyond that stretching and some supplements have been shown to slow progression.  

Reply to Discussion


Need help using this community site? Visit Ning's Help Page.



© 2022   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service