No really, it is. I have to make a confession: I have been laboring under the impression for the last nearly two years that no one in the United States is researching SMARD.
I was wrong.
Victoria sent me an email the other day letting me know that she discovered that the National Institutes of Health is acutally funding SMARD research at the University of Pennsylvania. Dr. Zissimos Mourelamos is heading the project, along with Dr. Gregory Cox, another researcher in Maine. I was able to contact Dr. Mourelamos via email, and I found out some pretty cool stuff. His team is finding that IGHMPB2, the gene that when mutated or deleted causes SMARD, appears to play a part in translating messenger RNA. He attached a paper that I have not read just yet, as I have been in no-night-nurse-hazy-sleepy-fog and I know I'm going to have to be on my toes when I read it. My plan is also to send it to our geneticist and see what she can make of it.
Anyhoo, I am thrilled to be wrong, and joyfully stand corrected. I am so glad to have researchers paying attention to our little and far between disorder--thank you Dr. Mourelamos and Dr. Cox!!!
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7 comments:
Hurray, that is such good news, Devon! I'm so very happy to know this :D
Awesome! I love that!
I'm glad you were wrong too. :) That's great news and I hope that the attached information you haven't read yet has a lot of new and helpful news!
Amazing!!! Such good news!!!
such great news
Sometimes it is SO good to be wrong! :)
So, so glad you contacted the researcher. And so, so glad I sent that to you -- I almost didn't thinking you probably knew about this already. I won't second guess again -- as I know there will be lots more research to send you soon :)
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