I would like to create a list of all DMD guys who require different exon skipping.

 

For example a group which requires exon 51 skipping.

 

My son requires exon 11 skipping.

 

How can PPMD help in this.

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I would appeal to all the people to share there information as creating group exon skipping wise is much more benefical.

 

Am also finding ways wherein people are ready to give their details.

Brian Denger said:

Anand,

 

I don't know that people are willing to share this information freely.  Some may post what they know about a mutation on this and other websites, yet I would be surprised if they provide such personal data including contact information.

 

Brian

 

ANAND SHAH said:

I want it very specific. Want to create a diary of all children having a need of exon skipping 11.  Want their cell nos, email address, age.

Keith Van Houten said:
Brian - how do you do that?  I'm looking in the "explore" section.  Can I search for a specific deletion and see how many people are in the registry with that mutation? 

Brian Denger said:
Hello Anand,

If you participate in the DuchenneConnect Patient Registry the site can searched for the various deletions for participants. All personally identifiable information is removed, yet if you are looking for raw data this is a good resource. Go to https://www.duchenneconnect.org

Brian Denger


Hey nguyen van anh,

just chill. whenever there is a will , there is a way. research will surelt happen for all exons. it would not make a difference if rare or rarer. It will surely happen and you will see it happening.


Nguyen Van Anh said:

Pat just inform us the my son mutaion with deletion exon18-25, is just less than 5% of Duchenne. I really disappointed. Is it too rare to do research with exon 17 skipping.

And other bad information that my son can not make any distrophin.

I really feel dark, hopeless.

Van Anh

Hi Anand,

Thank you for words of comfort. But I found in documents about exon skipping using antisense oligonucleotides (the methods of AVI4568 and PRO51), It will be not applicability for exon 17 (on page 11 of attached doc).



ANAND SHAH said:


Hey nguyen van anh,

just chill. whenever there is a will , there is a way. research will surelt happen for all exons. it would not make a difference if rare or rarer. It will surely happen and you will see it happening.


Nguyen Van Anh said:

Pat just inform us the my son mutaion with deletion exon18-25, is just less than 5% of Duchenne. I really disappointed. Is it too rare to do research with exon 17 skipping.

And other bad information that my son can not make any distrophin.

I really feel dark, hopeless.

Van Anh

Attachments:
Nguyen:  Please don't despair.  Exon skipping is not the only form of research going on out there.  There is other research that is not gene specific, but will benefit all of the boys. 

Dear Nguyen, Please could you tell me which are the deletions on Anh Khoi. If skipping of exon 17 is required then I assume there is deletion of either exons 7- 16 or 12 - 16. If it is  deletion of 12 - 16 then skipping of 11  will suffice too or if it is  7- 16 then skipping of 6 too is a viable option other than skipping of exon 17. 

My sons (7y and 3y) have deletion of exon 12 -25, the solution is to skip exon 11 for reducing the severity.Please let me know if there is any development happening any where.

Regards Vinu


 Nguyen Van Anh said:

Anh Khoi need exon 17 skipping

I wish we could still search for deletions, but honestly they are probably just trying to save us from ourselves. Those of us with rare deletions aren't going to get exon skippers very soon, though someday, probably, unless they figure out something better. Also kids with the exact same deletion can progress so differently, they don't resemble each other at all. For now, I am just hoping some combo of utrophin, halo, etc. can buy some time until they find something that works for all boys regardless of deletion.

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