RAKTIM SINGH's Comments

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At 12:34pm on March 25, 2010, Bains said…
Welcome to the group India Raktim!
At 1:39am on November 16, 2009, sheela mary said…
hello sir , i m J.SHEELA MARY. my one and only brother J.XAVIER LAWRENCE (24) who is affected by DMD.i m doing M.Phil (bo-technology) in PMU at thanjavur.now i m going to do my research work regarding DMD .if u got any new information about DMD,Plz kindly forwrd to me.shylmary@rediffmail.com this is my e.mail id
At 5:48pm on November 6, 2009, John R Henderson said…
Hello Raktim,

My son is nearly the same age as yours, and has the same deletion - Exons 46-50; like you I am keen to see progress towards double skipping !

My understanding is that once "proof of principle" has been demonstrated in forthcoming clinical trials of single skipping (of Exon 51) then there will be good grounds for double skipping to be explored.

I was at the Genetics Department at Guys Hospital London earlier this week - they are now checking back through our family line to find when / where the gene deletion ocurred. I raised questions about supplementary gene tests to establish for sure if the deletion is the whole of exons 46 - 50, because if the deletion starts or ends somewhere within an exon then single skipping might still be possible depending on the number of base pairs missing ?

Establishing that is clearly difficult when looking at the DNA alone, and will really require a muscle biopsy so they can check the RNA produced in the cells (I was trying to avoid that proceedure).

However I came away with a strong sense that - although no one is making promises about the outcome of trials - exon skipping is a technology which is progressing rapidly and even the health professionals recognise that it could confer significant benefits.

Regards,

John.

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