RNA Interference

This month, you may have heard the news that the 2006 Nobel Prize for Medicine was awarded to Craig Mello and Andrew Fire, two American scientists “whose discovery of RNA interference has revolutionized the science of genetics. In discovering that specific genes can be silenced through RNA interference, therapeutics are now being researched to treat, among other things, genetic diseases.”

PC research has been directly affected by this incredible discovery. The most promising research being done right now for PC patients is in the field of RNA interference. Already, scientists affiliated with PC Project have successfully inhibited the expression of the K6a gene in both tissue cultures (cells in a dish) and in mice. The treatment has been given “Orphan Product” status through the FDA meaning it has a special process at the FDA because it is for an ultra rare (called Orphan) disease.

Currently, toxicology studies are being performed to test the safety of this treatment. The treatment is given to mice over a period of 28 days and dozens of tests are performed to check all of the their organs and measure every possible thing to be sure there are no problems with the treatment. Better to experiment on mice (although very expensive) than on humans! This is necessary before our scientists are able to apply for FDA approval for human clinical trials. This is remarkably fast progress.

Since PC Project begun about three years ago, I have been awed and amazed at the timing of things. How incredible that just eight years ago, these Nobel Prize winners first made this remarkable discovery and now, our very own PC scientists are working to make this knowledge applicable to our skin disorder.

Just today, Mary and I were reminiscing about how one of the main scientists, who is working on RNA interference for PC Project, came to be part of our group. It’s nothing short of a miracle that Roger Kaspar came to our first meeting at Park City in 2004. He wasn’t on our original list of scientists, but Dr. Leachman wanted to include something on RNA interference as one of the possible approaches for PC. A colleague at the UofU told her about Prof. Kaspar and although invited at the last minute, he came to Park City and made a presentation on his work (called hairpin RNA).

Everyone was impressed that after Prof. Kaspar listened to what the other scientists had to say about PC research possibilities, he told the group he thought some of the other approaches such as siRNA were more applicable to possible PC research than the hairpin research he had presented. We thought perhaps that was the end of his research contributions to PC. But Roger Kaspar didn’t forget about us. And through a series of small, significant events (one including lunch with us in a hospital cafeteria as he was passing through Salt Lake City), Prof. Kaspar made a career change and partnered with PC Project to start a small biotech company that is devoted to PC research, primarily with siRNA interference!

I could tell you amazing stories about all the main scientists who are working together to find a cure for PC. The timing is too uncanny to be ignored. These scientists each seem to step in with their contributions at just the right time in the research process – and in the patient support process. Many, many times, Mary and I both have shed tears of gratitude for them.

I will probably never meet in person with Professors Mello and Fire. But I thank them for the countless hours they surely spent in their labs to discover something that may truly be applicable to me, my boys, and all my PC friends. I also thank the scientists I do know, for their time and efforts in making the findings of Mello and Fire something that has given me, for the first time in my life, hope of walking pain-free someday. Our PC scientists may not be the Nobel Prize winners this year, but they truly emulate the word “noble” to me. Thanks to all of you!