G'Day Deb!!! Hope all is well with you and yours. Maybe I should have specified in my profile, but my involvement in beef jerky and Scotch whiskey activities tends to be more toward the consumption side of things!
See you soon? (either at PPMD conference or Action Duchenne conference?)
Cool, glad you had a pie. I haven't had a commercial variety for years, for the same reason. Thanks for catching up with Steve and Sue, whom I know you have funded in the past. Whenever I get a site inquiry or a personal inquiry in relation to exon skipping, I forward it to Sue and she replies with a lengthy, considerate explanation to the parent cc: to me. Nothing is too much trouble for either of them - let's hope their work, combined with others, will indeed yield some functional improvements in humans as results are published for upcoming phases. They deserve it - hell our kids deserve it! Would you like to receive our (fairly infrequent) PPA newsletters Neil? Cya round like a rissole - does this meat also bring back memories? ;-)
I met Steve Wilton and Sue Fletcher in San Diego Thursday night. In an Aussie pub called Bondi! I am on a diet to lower Cholesterol but broke it for a meat pie. Life is too short not to partake in a Four and Twenty! Best wishes, Neil
Doing OK...one child is married - last year - 2 to go! Here, we are still struggling to get some funding to participate in the global duchenne registry - many of our chn have not had fine mapping and our geneticists need ethical approvals and admin support to validate data, even though parents may commence a registration process with the kind guys global registry.
I thought that exon skipping is very experimental at this stage, so the predictor is a good name for that utility, because until more trials are done in humans, the scientists can surely only predict what will happen in terms of improving function. I only know about the multi-centre international trials for the PTC124 for nonsense mutations, which will also start here soon. So we will focus on data collection problems so that more families are prepared for all possiblities. Deb
HI Deb, hope you are well my good friend, i saw the comment you left re exon skipping, i am still trying to get information on it for my son, jarryd has deletion 48 to 50 i checked out the email that was posted and it was the same deletion as jarryd has, does that mean he is good for the trial, please let me know what you think, i did the trial predictor thing on the web as you suggested and it said yes, but what does this mean, thanks so much Maxine
Hi, it is amazing the functionality and generally the focus of PPMD. I resigned from the General MD society here in SA this week, it is like flogging a dead horse, now just need to get the PPMD SA organisation off the ground.
Are you going to Philly this year, I am considering it, but it is unlikly as it is exactly around the time we would need to decide about the continuation of the pregnancy after test results return, we hope for the best, but you never can be sure. If the result is DMD boy, we intend to terminate before 14 weeks. It is out of our hands now, so lets hope and prey we are blessed with a healthy child. The thought of 4 kids scares me somewhat, but I am sure it will be a happy family.