Good morning. I am delighted to join you this morning. Today I'd like to tell you an interesting translational research story whereby a rare disease can be an example for how scientific advances can lead to acceleration of new therapies. This story will include some genetic sleuthing, a creative interdisciplinary team, a foundation of protein biochemistry, cutting-edge cell biology, creation of a mouse model, designer drug development, some good luck along the way, kids enrolling in a clinical trial from around the world, and finally, unexpected consequences for a condition that affects all of us.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540623 | PMC |
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