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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Louie requires either 45 or 56.
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
Hi Anand

My son also requires 11 skipping. I have not found any one else with this so far. What mutation does your son have. My son is missing 12.

thanks,

-bain
My son, Kian has deletion of exon 51. He needs 50 skipped. I started a group for that deletion. I suggest starting a group for the particular deletion and stating waht exon needs to be skipped. It would answer alot of ??. :]
my son exon missing are 12 to 16.

Bains said:
Hi Anand

My son also requires 11 skipping. I have not found any one else with this so far. What mutation does your son have. My son is missing 12.

thanks,

-bain


ANAND SHAH said:
my son exon missing are 12 to 16.
do give me your contact no. . mine is 919821123555
Bains said:
Hi Anand

My son also requires 11 skipping. I have not found any one else with this so far. What mutation does your son have. My son is missing 12.

thanks,

-bain
Anh Khoi need exon 17 skipping
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
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

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

Keith,

 

The registry has changed since I posted this information.  It is no longer possible to search by specific mutation.

 

Brian

 

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

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

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