03/08/2012
Paul Muhlrad

I’m writing my final blog post from back in my office at MDA National Headquarters in Tucson, where I just finished assigning reviewers to our last batch of grant applications for the upcoming round of reviews — the work never ends!

For me, the final session of our 2012 Clinical Meeting was a gratifying celebration of what MDA’s research program is all about.  We listened to encouraging updates on several of the most promising therapy approaches for the neuromuscular conditions in our program:  gene replacement, exon skipping, small molecules, antisense oligonucleotides, and RNA interference (RNAi).

Heeding MDA Medical Director and Interim President Valerie Cwik’s advice from her excellent introductory talk, I hesitate to use that word, “promising.”  Yes, the results from animal and cell experiments for all these strategies have been remarkable.  But Valerie reminded us not to let our enthusiasm get too far ahead of the reality of the challenges for bringing these medical technologies into practice.  We should all remember that the drug development process is extremely complex and will take time.  Some approaches will ultimately fail, but some will work.  We WILL get there, but we can’t let up on our pursuit of emerging therapies and innovation to develop approaches that we can’t yet imagine.  That’s what MDA research is all about.

In Monday’s blog post, I wrote about APOG, the Awesome Power of Genetics.  All of the experimental therapies discussed yesterday are a direct result of basic genetic research on viruses, bacteria, fruit flies, worms — even jellyfish!  As a research director, it’s often frustratingly difficult to convey the importance of these “unsexy” experiments to our families and donors, who understandably want a cure NOW!  Much of the science is esoteric and can seem so trivial.  It makes lousy press releases.  But here are some examples to illustrate the importance of basic science: 

• Replacement genes, like dystrophin, SMN, and dystroglycan, are designed and engineered in bacteria, and delivered to muscles using viruses.
• One of the most important molecular “tracers” that researchers use to monitor their experimental therapies in the cell is a green fluorescent protein from a jellyfish.
• A new technology called RNAi, which could work as a therapy for virtually all dominantly inherited genetic diseases, was first discovered in petunias and worms.

Enough scientific philosophizing …  As I mentioned in my first post, I was so excited to catch up with many of our researchers and clinicians in Las Vegas.  What I didn’t realize before the conference was how moved I would be by the extraordinary new friends I was to make.  Among the remarkable people I got to know in Las Vegas were Vance Taylor and his wife, Cassie, and Angela Wrigglesworth and her great friend, Ashley.  You’ve had a great chance to meet Vance and Angela through their fabulous blogs, but I wish everyone could meet them in person.  First, they’re both hilarious!  Their dinner stories had me ROTFLing (Sorry, I’m still working on my Internetese).  Angela said she loves to tell stories to her fourth- graders.  Oh, how I’d love to be a student in Miss Wrigglesworth’s class!  Vance and Angela are also incredibly insightful, strong and inspirational individuals.  They each kept the audiences spellbound with their conference talks.  I always brag about MDA’s wonderful researchers and clinicians.  Now I’m in equal awe of the other members of my MDA family. 

Can’t wait till the next reunion!